CHD1
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Summary
CHD1 (chromodomain helicase DNA binding protein 1, HGNC:1915) is a protein-coding gene on chromosome 5q15-q21.1, encoding ATP-dependent chromatin remodeler CHD1 (O14646). ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA.
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template.
Source: NCBI Gene 1105 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Pilarowski-Bjornsson syndrome (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 9
- Clinical variants (ClinVar): 481 total — 3 pathogenic, 8 likely-pathogenic
- Phenotypes (HPO): 27
- Druggable target: yes
- MANE Select transcript:
NM_001270
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1915 |
| Approved symbol | CHD1 |
| Name | chromodomain helicase DNA binding protein 1 |
| Location | 5q15-q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000153922 |
| Ensembl biotype | protein_coding |
| OMIM | 602118 |
| Entrez | 1105 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 retained_intron, 4 protein_coding, 3 nonsense_mediated_decay
ENST00000414220, ENST00000505657, ENST00000505982, ENST00000508756, ENST00000511067, ENST00000511628, ENST00000512392, ENST00000512844, ENST00000513064, ENST00000514344, ENST00000614616, ENST00000706140, ENST00000706141, ENST00000926040, ENST00000926041
RefSeq mRNA: 3 — MANE Select: NM_001270
NM_001270, NM_001364113, NM_001376194
CCDS: CCDS34204, CCDS93752
Canonical transcript exons
ENST00000614616 — 36 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002081724 | 98870687 | 98870803 |
| ENSE00003514723 | 98869754 | 98869882 |
| ENSE00003646027 | 98868495 | 98868635 |
| ENSE00003791542 | 98863408 | 98863586 |
| ENSE00003994791 | 98881279 | 98881375 |
| ENSE00003994793 | 98897193 | 98897320 |
| ENSE00003994794 | 98859972 | 98860068 |
| ENSE00003994798 | 98899480 | 98899705 |
| ENSE00003994800 | 98898256 | 98898434 |
| ENSE00003994801 | 98901186 | 98901335 |
| ENSE00003994802 | 98853985 | 98856725 |
| ENSE00003994806 | 98902900 | 98902964 |
| ENSE00003994807 | 98928539 | 98929007 |
| ENSE00003994808 | 98873593 | 98873723 |
| ENSE00003994809 | 98879552 | 98879728 |
| ENSE00003994810 | 98889076 | 98889238 |
| ENSE00003994812 | 98876398 | 98876558 |
| ENSE00003994815 | 98926334 | 98926534 |
| ENSE00003994817 | 98872051 | 98872201 |
| ENSE00003994824 | 98872417 | 98872555 |
| ENSE00003994825 | 98896226 | 98896442 |
| ENSE00003994827 | 98904897 | 98905098 |
| ENSE00003994828 | 98885578 | 98885649 |
| ENSE00003994829 | 98883088 | 98883237 |
| ENSE00003994830 | 98858180 | 98858390 |
| ENSE00003994831 | 98858964 | 98859015 |
| ENSE00003994832 | 98881975 | 98882123 |
| ENSE00003994833 | 98875072 | 98875113 |
| ENSE00003994834 | 98900811 | 98901082 |
| ENSE00003994841 | 98893416 | 98893606 |
| ENSE00003994842 | 98881076 | 98881171 |
| ENSE00003994843 | 98898664 | 98898764 |
| ENSE00003994844 | 98888088 | 98888240 |
| ENSE00003994847 | 98903792 | 98903908 |
| ENSE00003994849 | 98892525 | 98892713 |
| ENSE00003994850 | 98894597 | 98894686 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 96.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3039 / max 1000.0594, expressed in 1805 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62741 | 23.3676 | 1800 |
| 62742 | 2.4809 | 1143 |
| 62737 | 1.4093 | 460 |
| 62743 | 0.9731 | 509 |
| 62738 | 0.7672 | 235 |
| 62739 | 0.4906 | 200 |
| 62740 | 0.3592 | 166 |
| 62744 | 0.1824 | 65 |
| 62736 | 0.1652 | 63 |
| 62730 | 0.1083 | 36 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.31 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.93 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.47 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.46 | gold quality |
| bone marrow | UBERON:0002371 | 95.02 | gold quality |
| thymus | UBERON:0002370 | 94.28 | gold quality |
| monocyte | CL:0000576 | 94.12 | gold quality |
| mononuclear cell | CL:0000842 | 94.05 | gold quality |
| left ovary | UBERON:0002119 | 93.98 | gold quality |
| ventricular zone | UBERON:0003053 | 93.96 | gold quality |
| leukocyte | CL:0000738 | 93.91 | gold quality |
| caput epididymis | UBERON:0004358 | 93.87 | gold quality |
| right ovary | UBERON:0002118 | 93.74 | gold quality |
| right testis | UBERON:0004534 | 93.59 | gold quality |
| left uterine tube | UBERON:0001303 | 93.57 | gold quality |
| left testis | UBERON:0004533 | 93.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.32 | gold quality |
| peritoneum | UBERON:0002358 | 93.27 | gold quality |
| omental fat pad | UBERON:0010414 | 93.27 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.13 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.99 | gold quality |
| testis | UBERON:0000473 | 92.93 | gold quality |
| ovary | UBERON:0000992 | 92.91 | gold quality |
| right lung | UBERON:0002167 | 92.83 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.60 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 92.60 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.47 | gold quality |
| mammary duct | UBERON:0001765 | 92.47 | gold quality |
| tibial nerve | UBERON:0001323 | 92.33 | gold quality |
| bone marrow cell | CL:0002092 | 92.25 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 1255.45 |
| E-GEOD-106540 | no | 852.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI3, KMT2A, NKX3-1, SMARCA1, SMARCA5, SSRP1
miRNA regulators (miRDB)
191 targeting CHD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
Literature-anchored findings (GeneRIF, showing 40)
- associates with NCoR and histone deacetylase as well as with RNA splicing proteins (PMID:12890497)
- yeast and human CHD1 have diverged in their ability to discriminate covalently modified histones and link histone modification-recognition and non-covalent chromatin remodeling activities within a single human protein (PMID:16263726)
- the structure of the tandem arrangement of the human CHD1 chromodomains, and its interactions with histone tails (PMID:16372014)
- analysis of chromodomains in human and fungal Chd1 (PMID:17098252)
- overexpression of CHD1L could sustain tumor cell survival by preventing Nur77-mediated apoptosis (PMID:19441106)
- CENP-H-containing complex facilitates deposition of newly synthesized CENP-A into centromeric chromatin in cooperation with FACT and CHD1. (PMID:19625449)
- Mediator coactivator complex, which controls PIC assembly, is also necessary for CHD1 recruitment (PMID:21979373)
- that hPaf1/PD2 in association with MLL1 regulates methylation of H3K4 residues, as well as interacts and regulates nuclear shuttling of chromatin remodeling protein CHD1, facilitating its function in pancreatic cancer cells (PMID:22046413)
- CHD1, was the most “dietary sensitive” genes, as methylation of their promoters was associated with intakes of at least two out of the eight dietary methyl factors examined. (PMID:22048254)
- findings collectively suggest that distinct CHD1-associated alterations of genomic structure evolve during and are required for the development of prostate cancer (PMID:22139082)
- findings suggest that CHD1 deletion may underlie cell invasiveness in a subset of prostate cancers, and indicate a possible novel role of altered chromatin remodeling in prostate tumorigenesis (PMID:22179824)
- CHD1 is the 5q21 tumor suppressor gene in prostate cancer (PMID:23492366)
- Data indicate that chromodomain-helicase-DNA-binding protein CHD1, neoplasm protein GREB1 and karyopherin alpha 2 protein KPNA2 as critical mediators of miR-26a and miR-26b elicited cell growth. (PMID:24735615)
- The double chromodomains of CHD1 adopt an ‘open pocket’ to interact with the free N-terminal amine of H3K4, and the open pocket permits the NS1 mimic to bind in a distinct conformation. (PMID:24853335)
- results demonstrate the ability of confocal microscopy and FISH to identify the cell-to-cell differences in common gene fusions such as TMPRSS2-ERG that may arise independently within the same tumor focus (PMID:25175909)
- CHD1 and CHD2 act as positive regulators of HIV-1 gene expression. (PMID:25297984)
- identify coordinate loss of MAP3K7 and CHD1 as a unique driver of aggressive prostate cancer development (PMID:25770290)
- We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22). (PMID:25879624)
- These data link the assembly of methylated KDM1A and CHD1 with AR-dependent transcription and genomic translocations, thereby providing mechanistic insight into the formation of TMPRSS2-ERG gene fusions during prostate-tumor evolution. (PMID:26751641)
- These results indicate that CHD1 is a positive regulator of influenza virus multiplication and suggest a role for chromatin remodeling in the control of the influenza virus life cycle. (PMID:26792750)
- The authors have identified an additional conserved domain C-terminal to the SANT-SLIDE domain and determined its structure by multidimensional heteronuclear NMR spectroscopy. They have termed this domain the CHD1 helical C-terminal (CHCT) domain as it is comprised of five alpha-helices arranged in a variant helical bundle topology. (PMID:27591891)
- examined the role of CHD1 in DNA double-strand break (DSB) repair in prostate cancer cells; findings show that CHD1 is required for the recruitment of CtIP to chromatin and subsequent end resection during DNA DSB repair; data support a role for CHD1 in opening the chromatin around the DSB to facilitate the recruitment of homologous recombination (HR) proteins (PMID:27596623)
- In PTEN-deficient prostate and breast cancers, CHD1 depletion profoundly and specifically suppressed cell proliferation, cell survival and tumorigenic potential. (PMID:28166537)
- CHD1 loss is associated with an increased sensitivity to PARP inhibition and anti-cancer drugs that induce DNA intercross-strand links in prostate tumors. (PMID:28383660)
- CHD1 is required for the induction of osteoblast-specific gene expression, extracellular-matrix mineralization and ectopic bone formation in vivo. Genome-wide occupancy analyses revealed increased CHD1 occupancy around the transcriptional start site of differentiation-activated genes. (PMID:28475736)
- Increased CHD1L protein expression was significantly associated with poor overall survival in pancreatic cancer patients. (PMID:28646284)
- Our results suggest that variants in CHD1 can lead to diverse phenotypic outcomes; however, the neurodevelopmental phenotype appears to be limited to patients with missense variants, which is compatible with a dominant negative mechanism of disease. (PMID:28866611)
- CHD1 facilitates substrate handover from XPC to the downstream TFIIH (transcription factor IIH). (PMID:29018037)
- Identified a unique N-terminal region of CHD1 that inhibits the DNA binding, ATPase, and chromatin assembly and remodeling activities of CHD1. CHD1 lacking the N terminus was more active in rescuing the defects in gammaH2AX formation and CtIP recruitment in CHD1-KO cells than full-length CHD1, suggesting the N terminus is a negative regulator in cells. (PMID:29529298)
- SPOP-mutated mCRPCs are strongly enriched for CHD1 loss. These tumors appear highly sensitive to abiraterone treatment. (PMID:30068710)
- CHD1 functions as a tumor suppressor in the prostate by constraining AR binding/function to limit tumor progression. (PMID:30930119)
- The chromatin remodeler Chd1 regulates cohesin in budding yeast and humans. (PMID:31222142)
- Loss of CHD1 Promotes Heterogeneous Mechanisms of Resistance to AR-Targeted Therapy via Chromatin Dysregulation. (PMID:32220301)
- CHD1 loss negatively influences metastasis-free survival in R0-resected prostate cancer patients and promotes spontaneous metastasis in vivo. (PMID:33414516)
- The Chromatin Remodeling Complex CHD1 Regulates the Primitive State of Mesenchymal Stromal Cells to Control Their Stem Cell Supporting Activity. (PMID:33593142)
- MAP3K7 Loss Drives Enhanced Androgen Signaling and Independently Confers Risk of Recurrence in Prostate Cancer with Joint Loss of CHD1. (PMID:33846123)
- Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex. (PMID:34424918)
- SPOP and CHD1 alterations in prostate cancer: Relationship with PTEN loss, tumor grade, perineural infiltration, and PSA recurrence. (PMID:34533858)
- CHD1 Promotes Sensitivity to Aurora Kinase Inhibitors by Suppressing Interaction of AURKA with Its Coactivator TPX2. (PMID:35771632)
- MiR-30a-5p/CHD1 axis enhances cisplatin sensitivity of ovarian cancer cells via inactivating the Wnt/beta-catenin pathway. (PMID:36206129)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chd1 | ENSDARG00000103787 |
| mus_musculus | Chd1 | ENSMUSG00000023852 |
| rattus_norvegicus | Chd1 | ENSRNOG00000014434 |
Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), BTAF1 (ENSG00000095564), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), SMARCA5 (ENSG00000153147), SMARCAD1 (ENSG00000163104), RAD54L2 (ENSG00000164080), CHD3 (ENSG00000170004), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275), ERCC6 (ENSG00000225830)
Protein
Protein identifiers
ATP-dependent chromatin remodeler CHD1 — O14646 (reviewed: O14646)
Alternative names: Chromo domain-containing protein 1
All UniProt accessions (5): O14646, A0A087WVF4, A0A994J7K7, H0Y8V4, H0Y8Z0
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity. Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3. Required for maintaining open chromatin and pluripotency in embryonic stem cells.
Subunit / interactions. Component of the SAGA complex. Interacts with BCLAF1, NCoR, SRP20 and SAFB. Specifically interacts with methylated H3K4me2 and H3K4me3. Interacts with the FACT complex, the PAF complex and the U2 snRNP. Interacts directly with PAF1, SFA3A1, SFA3A2, SFA3A3, SNF2 and SSRP1.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in many tissues including in the brain, where the highest level of expression is found in the cerebellum and basal ganglia.
Disease relevance. Pilarowski-Bjornsson syndrome (PILBOS) [MIM:617682] An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The 2 chromodomains are involved in the binding to the histone H3 methyllysine at position 4 (H3K4me3). The CHD1 helical C-terminal domain (CHCT) binds DNA and nucleosomes.
Similarity. Belongs to the SNF2/RAD54 helicase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14646-1 | 1 | yes |
| O14646-2 | 2 |
RefSeq proteins (3): NP_001261, NP_001351042, NP_001363123 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000330 | SNF2_N | Domain |
| IPR000953 | Chromo/chromo_shadow_dom | Domain |
| IPR001650 | Helicase_C-like | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR016197 | Chromo-like_dom_sf | Homologous_superfamily |
| IPR023779 | Chromodomain_CS | Conserved_site |
| IPR023780 | Chromo_domain | Domain |
| IPR025260 | CHD1-like_C | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR038718 | SNF2-like_sf | Homologous_superfamily |
| IPR040793 | CDH1_2_SANT_HL1 | Domain |
| IPR049730 | SNF2/RAD54-like_C | Domain |
| IPR056302 | CHD1-2/Hrp3_HTH | Domain |
Pfam: PF00176, PF00271, PF00385, PF13907, PF18375, PF23588
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (106 total): modified residue 27, helix 22, compositionally biased region 15, strand 11, region of interest 6, sequence variant 5, domain 4, mutagenesis site 4, turn 4, repeat 3, chain 1, short sequence motif 1, binding site 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
18 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9T9F | X-RAY DIFFRACTION | 1.35 |
| 9T9H | X-RAY DIFFRACTION | 1.45 |
| 9T9I | X-RAY DIFFRACTION | 1.55 |
| 5AFW | X-RAY DIFFRACTION | 1.6 |
| 4B4C | X-RAY DIFFRACTION | 1.62 |
| 9T9E | X-RAY DIFFRACTION | 1.7 |
| 9T9G | X-RAY DIFFRACTION | 1.7 |
| 4O42 | X-RAY DIFFRACTION | 1.87 |
| 4NW2 | X-RAY DIFFRACTION | 1.9 |
| 2B2Y | X-RAY DIFFRACTION | 2.35 |
| 2B2W | X-RAY DIFFRACTION | 2.4 |
| 2B2T | X-RAY DIFFRACTION | 2.45 |
| 2B2V | X-RAY DIFFRACTION | 2.65 |
| 2B2U | X-RAY DIFFRACTION | 2.95 |
| 8UMG | X-RAY DIFFRACTION | 3.1 |
| 9EAR | ELECTRON MICROSCOPY | 3.1 |
| 9NH8 | ELECTRON MICROSCOPY | 3.2 |
| 2N39 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14646-F1 | 62.63 | 0.09 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 506–513
Post-translational modifications (27): 1688, 215, 216, 237, 241, 250, 252, 471, 1025, 1040, 1081, 1085, 1096, 1098, 1100, 1102, 1161, 1353, 1355, 1356 …
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 1418–1425 | abolishes dna-binding. |
| 1429–1436 | abolishes dna-binding. |
| 1491–1495 | abolishes dna-binding. |
| 1498–1503 | abolishes dna-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9018519 | Estrogen-dependent gene expression |
| R-HSA-9943411 | CHD1 and CHD2 subfamily |
MSigDB gene sets: 337 (showing top):
YAGI_AML_WITH_INV_16_TRANSLOCATION, MODULE_255, GOBP_HOST_MEDIATED_ACTIVATION_OF_VIRAL_TRANSCRIPTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MODULE_317, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, BROWNE_HCMV_INFECTION_16HR_UP, FOXO1_01, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, FOSTER_TOLERANT_MACROPHAGE_UP, GENTILE_UV_RESPONSE_CLUSTER_D2, BLALOCK_ALZHEIMERS_DISEASE_UP, HFH8_01, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN
GO Biological Process (4): chromatin remodeling (GO:0006338), nucleosome organization (GO:0034728), host-mediated activation of viral transcription (GO:0043923), chromatin organization (GO:0006325)
GO Molecular Function (11): DNA binding (GO:0003677), chromatin binding (GO:0003682), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), histone binding (GO:0042393), histone H3K4me3 reader activity (GO:0140002), ATP-dependent chromatin remodeler activity (GO:0140658), nucleotide binding (GO:0000166), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (5): nuclear chromosome (GO:0000228), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| ESR-mediated signaling | 1 |
| CHD chromatin remodelers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| chromatin remodeling | 2 |
| binding | 2 |
| ATP-dependent activity | 2 |
| chromosome | 2 |
| nuclear lumen | 2 |
| chromatin organization | 1 |
| protein-DNA complex organization | 1 |
| host-mediated perturbation of viral transcription | 1 |
| host-mediated activation of viral process | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| protein binding | 1 |
| histone H3 reader activity | 1 |
| DNA binding | 1 |
| ATP-dependent activity, acting on DNA | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| nucleus | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
4002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHD1 | RTF1 | Q92541 | 922 |
| CHD1 | H3-3A | P06351 | 881 |
| CHD1 | H3C14 | Q71DI3 | 881 |
| CHD1 | H3-5 | Q6NXT2 | 881 |
| CHD1 | H3C1 | P02295 | 881 |
| CHD1 | H3-4 | Q16695 | 881 |
| CHD1 | H3-7 | Q5TEC6 | 881 |
| CHD1 | SUPT16H | Q9Y5B9 | 751 |
| CHD1 | SUPT5H | O00267 | 743 |
| CHD1 | SETD2 | Q9BYW2 | 737 |
| CHD1 | H2AZ1 | P0C0S5 | 736 |
| CHD1 | CHD6 | Q8TD26 | 727 |
| CHD1 | BPTF | Q12830 | 715 |
| CHD1 | H2BC21 | Q16778 | 700 |
| CHD1 | CHD8 | Q9HCK8 | 696 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KDM1A | CHD1 | psi-mi:“MI:0914”(association) | 0.700 |
| CHD1 | KDM1A | psi-mi:“MI:0407”(direct interaction) | 0.700 |
| KDM1A | CHD1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| CHD1 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.700 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF11 | CHD1 | psi-mi:“MI:0914”(association) | 0.530 |
| EHMT2 | CHD1 | psi-mi:“MI:0914”(association) | 0.500 |
| NS1 | CHD1 | psi-mi:“MI:0914”(association) | 0.500 |
| NS1 | CHD1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CHD1 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| CHD1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TAF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| KDM1A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| BMX | SMAP | psi-mi:“MI:0914”(association) | 0.350 |
| DOCK9 | CHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (175): CHD1 (Affinity Capture-MS), CHD1 (Protein-peptide), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Co-fractionation), CHD1 (Co-fractionation), CHD1 (Co-fractionation), CHD1 (Co-fractionation), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS), CHD1 (Affinity Capture-MS)
ESM2 similar proteins: A1Z9L3, A2A4P0, A2QIL2, A3KFM7, A3KMI0, B2RR83, B6ZLK2, D3ZA12, D4A2Z8, E9PZM4, F4IJV4, F4ILR7, F4JY24, F4K2E9, O14646, O14647, O18017, O42643, O45244, O60231, P24384, P34498, P40201, P93008, Q05B79, Q09530, Q10752, Q14562, Q17R09, Q38953, Q4TVV3, Q53RK8, Q54F05, Q5R746, Q5RAZ4, Q5ZI74, Q6P158, Q6P5D3, Q6PGC1, Q767K6
Diamond homologs: A0A0P0WGX7, A2A8L1, A2BGR3, A3KFM7, A6QQR4, A7Z019, A9X4T1, B0R0I6, B0XPE7, B3NAN8, B4GS98, B5BT18, B5DE69, B6ZLK2, D3Z9Z9, D3ZA12, D3ZD32, E1B7X9, F1Q8K0, F4I2H2, F4IV45, F4J9M5, F4JY24, F4K128, F4KBP5, F8VPZ5, G5EBZ4, G5EF53, O12944, O13682, O14139, O14646, O14981, O43065, O76460, P0CO16, P0CO17, P28370, P31380, P32333
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CHD1 | “up-regulates activity” | SF3a | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
481 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 8 |
| Uncertain significance | 357 |
| Likely benign | 52 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4088180 | NM_001270.4(CHD1):c.3888dup (p.Pro1297fs) | Pathogenic |
| 438819 | NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) | Pathogenic |
| 438821 | NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys) | Pathogenic |
| 1710449 | NM_001270.4(CHD1):c.1978A>G (p.Ile660Val) | Likely pathogenic |
| 2429179 | NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys) | Likely pathogenic |
| 2442344 | NM_001270.4(CHD1):c.643dup (p.Ser215fs) | Likely pathogenic |
| 2582374 | NM_001270.4(CHD1):c.2569-11A>G | Likely pathogenic |
| 3065580 | NM_001270.4(CHD1):c.490del (p.Ser164fs) | Likely pathogenic |
| 3254730 | NM_001270.4(CHD1):c.2112dup (p.Ser705fs) | Likely pathogenic |
| 3383426 | NM_001270.4(CHD1):c.1132_1144del (p.Gln378fs) | Likely pathogenic |
| 4819013 | NM_001270.4(CHD1):c.1101del (p.Pro368fs) | Likely pathogenic |
SpliceAI
5020 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:98858388:CAT:C | acceptor_gain | 1.0000 |
| 5:98858960:ATAC:A | donor_loss | 1.0000 |
| 5:98858961:TA:T | donor_loss | 1.0000 |
| 5:98858962:ACCTG:A | donor_loss | 1.0000 |
| 5:98860069:C:CC | acceptor_gain | 1.0000 |
| 5:98860079:T:C | acceptor_gain | 1.0000 |
| 5:98863406:A:AC | donor_gain | 1.0000 |
| 5:98863407:C:CC | donor_gain | 1.0000 |
| 5:98863407:CTTT:C | donor_gain | 1.0000 |
| 5:98863585:CA:C | acceptor_gain | 1.0000 |
| 5:98863588:T:C | acceptor_gain | 1.0000 |
| 5:98868489:GCTTA:G | donor_loss | 1.0000 |
| 5:98868490:CTTA:C | donor_loss | 1.0000 |
| 5:98868491:TTACA:T | donor_loss | 1.0000 |
| 5:98868492:TA:T | donor_loss | 1.0000 |
| 5:98868493:A:AC | donor_gain | 1.0000 |
| 5:98868493:A:C | donor_loss | 1.0000 |
| 5:98868494:C:CA | donor_loss | 1.0000 |
| 5:98868494:C:CC | donor_gain | 1.0000 |
| 5:98868494:CA:C | donor_gain | 1.0000 |
| 5:98868494:CAA:C | donor_gain | 1.0000 |
| 5:98868494:CAAT:C | donor_gain | 1.0000 |
| 5:98868494:CAATG:C | donor_gain | 1.0000 |
| 5:98868631:CTCAA:C | acceptor_gain | 1.0000 |
| 5:98868632:TCAA:T | acceptor_gain | 1.0000 |
| 5:98868633:CAA:C | acceptor_gain | 1.0000 |
| 5:98868633:CAAC:C | acceptor_gain | 1.0000 |
| 5:98868634:AA:A | acceptor_gain | 1.0000 |
| 5:98868634:AACT:A | acceptor_loss | 1.0000 |
| 5:98868635:ACTAA:A | acceptor_loss | 1.0000 |
AlphaMissense
11382 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:98859997:G:T | A1500D | 1.000 |
| 5:98859998:C:G | A1500P | 1.000 |
| 5:98860002:C:A | K1498N | 1.000 |
| 5:98860002:C:G | K1498N | 1.000 |
| 5:98860004:T:C | K1498E | 1.000 |
| 5:98860007:A:C | Y1497D | 1.000 |
| 5:98860007:A:T | Y1497N | 1.000 |
| 5:98860009:A:G | L1496S | 1.000 |
| 5:98860016:G:C | H1494D | 1.000 |
| 5:98860017:T:A | L1493F | 1.000 |
| 5:98860017:T:G | L1493F | 1.000 |
| 5:98860018:A:G | L1493S | 1.000 |
| 5:98860032:A:C | F1488L | 1.000 |
| 5:98860032:A:T | F1488L | 1.000 |
| 5:98860033:A:G | F1488S | 1.000 |
| 5:98860034:A:G | F1488L | 1.000 |
| 5:98860039:G:A | T1486I | 1.000 |
| 5:98860041:A:C | F1485L | 1.000 |
| 5:98860041:A:T | F1485L | 1.000 |
| 5:98860042:A:C | F1485C | 1.000 |
| 5:98860042:A:G | F1485S | 1.000 |
| 5:98860043:A:C | F1485V | 1.000 |
| 5:98860043:A:G | F1485L | 1.000 |
| 5:98860043:A:T | F1485I | 1.000 |
| 5:98860048:G:A | S1483F | 1.000 |
| 5:98860049:A:G | S1483P | 1.000 |
| 5:98860051:A:T | V1482E | 1.000 |
| 5:98860053:A:C | F1481L | 1.000 |
| 5:98860053:A:T | F1481L | 1.000 |
| 5:98860054:A:C | F1481C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000040891 (5:98904357 T>A,C), RS1000048149 (5:98892234 T>C), RS1000062578 (5:98910352 G>A), RS1000140444 (5:98913486 A>T), RS1000178679 (5:98910162 T>C), RS1000242887 (5:98866901 G>C), RS1000248631 (5:98855261 A>G), RS1000294089 (5:98854321 A>T), RS1000326016 (5:98905137 T>A,C), RS1000357799 (5:98861894 A>C,G), RS1000393804 (5:98885302 G>C), RS1000394655 (5:98872873 A>G), RS1000409709 (5:98921429 G>A), RS1000459011 (5:98879781 A>C,G,T), RS1000461968 (5:98921667 T>C)
Disease associations
OMIM: gene MIM:602118 | disease phenotypes: MIM:617682, MIM:617862
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Pilarowski-Bjornsson syndrome | Strong | Autosomal dominant |
| complex neurodevelopmental disorder | Limited | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | AD |
Mondo (4): Pilarowski-Bjornsson syndrome (MONDO:0060568), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MONDO:0060640)
Orphanet (2): Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome (Orphanet:529965), Non-specific syndromic intellectual disability (Orphanet:528084)
HPO phenotypes
27 total (27 of 27 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000307 | Pointed chin |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000527 | Long eyelashes |
| HP:0000574 | Thick eyebrow |
| HP:0000629 | Periorbital fullness |
| HP:0000717 | Autism |
| HP:0000729 | Autistic behavior |
| HP:0000733 | Motor stereotypy |
| HP:0001211 | Abnormal fingertip morphology |
| HP:0001212 | Prominent fingertip pads |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0002007 | Frontal bossing |
| HP:0002721 | Immunodeficiency |
| HP:0003593 | Infantile onset |
| HP:0007874 | Almond-shaped palpebral fissure |
| HP:0008897 | Postnatal growth retardation |
| HP:0010648 | Dermal translucency |
| HP:0011098 | Speech apraxia |
| HP:0011229 | Broad eyebrow |
| HP:0011800 | Midface retrusion |
| HP:0012393 | Allergy |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001304_1 | Renal sinus fat | 7.000000e-06 |
| GCST002127_15 | Periodontitis (Mean PAL) | 9.000000e-06 |
| GCST004600_155 | Eosinophil percentage of white cells | 2.000000e-13 |
| GCST004606_120 | Eosinophil count | 1.000000e-10 |
| GCST004617_100 | Eosinophil percentage of granulocytes | 2.000000e-13 |
| GCST004623_5 | Neutrophil percentage of granulocytes | 3.000000e-12 |
| GCST004631_30 | Basophil percentage of white cells | 6.000000e-10 |
| GCST90002382_111 | Eosinophil percentage of white cells | 3.000000e-18 |
| GCST90002396_307 | Mean reticulocyte volume | 7.000000e-13 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004864 | renal sinus adipose tissue measurement |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0010701 | mean reticulocyte volume |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523123 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
32 potent at pChembl≥5 of 57 total, top 32 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.40 | IC50 | 400 | nM | CHEMBL6162155 |
| 6.21 | IC50 | 620 | nM | CHEMBL6167419 |
| 6.12 | IC50 | 760 | nM | CHEMBL6166574 |
| 6.10 | IC50 | 800 | nM | CHEMBL6147437 |
| 6.10 | IC50 | 800 | nM | CHEMBL6170691 |
| 6.00 | Kd | 1000 | nM | CHEMBL6151379 |
| 6.00 | IC50 | 1000 | nM | CHEMBL6165658 |
| 5.89 | IC50 | 1300 | nM | CHEMBL6161222 |
| 5.85 | IC50 | 1400 | nM | CHEMBL6159947 |
| 5.80 | IC50 | 1600 | nM | CHEMBL6171654 |
| 5.80 | IC50 | 1600 | nM | CHEMBL6146090 |
| 5.77 | IC50 | 1700 | nM | CHEMBL6164059 |
| 5.77 | IC50 | 1700 | nM | CHEMBL6170209 |
| 5.75 | IC50 | 1800 | nM | CHEMBL6163641 |
| 5.72 | IC50 | 1920 | nM | CHEMBL6163845 |
| 5.62 | IC50 | 2400 | nM | CHEMBL6146760 |
| 5.57 | IC50 | 2700 | nM | CHEMBL6160342 |
| 5.40 | IC50 | 4000 | nM | CHEMBL6150008 |
| 5.39 | IC50 | 4100 | nM | CHEMBL6169498 |
| 5.37 | Kd | 4300 | nM | CHEMBL6170209 |
| 5.31 | IC50 | 4900 | nM | CHEMBL1829307 |
| 5.30 | IC50 | 5000 | nM | CHEMBL6165257 |
| 5.30 | IC50 | 5000 | nM | CHEMBL6170545 |
| 5.30 | IC50 | 5000 | nM | CHEMBL6163786 |
| 5.23 | IC50 | 5900 | nM | CHEMBL6174769 |
| 5.23 | IC50 | 5900 | nM | CHEMBL6152866 |
| 5.22 | IC50 | 6000 | nM | CHEMBL6173559 |
| 5.19 | IC50 | 6400 | nM | CHEMBL6151379 |
| 5.19 | IC50 | 6400 | nM | CHEMBL6169721 |
| 5.16 | IC50 | 7000 | nM | CHEMBL6165999 |
| 5.05 | IC50 | 9000 | nM | CHEMBL6161724 |
| 5.00 | IC50 | 1e+04 | nM | CHEMBL6170241 |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, increases methylation | 4 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| bisphenol A | increases methylation, affects cotreatment, decreases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Indomethacin | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases reaction, affects binding | 1 |
| cobaltous chloride | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| pinosylvin | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4377349 | Binding | Binding affinity to CHD1 (unknown origin) assessed as induction of thermal shifts at 20 uM measured for 25 mins by SYPRO orange dye thermal shift assay | Discovery of a Potent and Selective Fragment-like Inhibitor of Methyllysine Reader Protein Spindlin 1 (SPIN1). — J Med Chem |
Cellosaurus cell lines
7 cell lines: 3 embryonic stem cell, 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0Q8 | SEES3-1V human CHD1, clone1 | Embryonic stem cell | Male |
| CVCL_A0Q9 | SEES3-1V human CHD1, clone2 | Embryonic stem cell | Male |
| CVCL_A0R0 | SEES3-1V human CHD1, clone3 | Embryonic stem cell | Male |
| CVCL_B2UB | Abcam HEK293T CHD1 KO | Transformed cell line | Female |
| CVCL_C0UV | KUCaP13 | Cancer cell line | Male |
| CVCL_SI85 | HAP1 CHD1 (-) 1 | Cancer cell line | Male |
| CVCL_SI86 | HAP1 CHD1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
204 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, Pilarowski-Bjornsson syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder, neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, periodontitis, Pilarowski-Bjornsson syndrome