DCAF7
gene geneOn this page
Also known as HAN11SWAN-1
Summary
DCAF7 (DDB1 and CUL4 associated factor 7, HGNC:30915) is a protein-coding gene on chromosome 17q23.3, encoding DDB1- and CUL4-associated factor 7 (P61962). Involved in craniofacial development. It is a selective cancer dependency (DepMap: 66.2% of cell lines).
This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10238 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 21 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 66.2% of screened cell lines
- MANE Select transcript:
NM_005828
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30915 |
| Approved symbol | DCAF7 |
| Name | DDB1 and CUL4 associated factor 7 |
| Location | 17q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HAN11, SWAN-1 |
| Ensembl gene | ENSG00000136485 |
| Ensembl biotype | protein_coding |
| OMIM | 605973 |
| Entrez | 10238 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 9 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron
ENST00000415273, ENST00000431926, ENST00000580091, ENST00000582274, ENST00000614556, ENST00000615512, ENST00000686337, ENST00000686787, ENST00000688437, ENST00000688721, ENST00000688888, ENST00000688972, ENST00000690417, ENST00000690481, ENST00000691063, ENST00000691458, ENST00000692877, ENST00000693226, ENST00000693510
RefSeq mRNA: 1 — MANE Select: NM_005828
NM_005828
CCDS: CCDS74127
Canonical transcript exons
ENST00000614556 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001758950 | 63589000 | 63594266 |
| ENSE00001781109 | 63579825 | 63579943 |
| ENSE00003463995 | 63585211 | 63585328 |
| ENSE00003555369 | 63579337 | 63579448 |
| ENSE00003602780 | 63578470 | 63578628 |
| ENSE00003729760 | 63550477 | 63550815 |
| ENSE00003743456 | 63583502 | 63583711 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 97.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.5984 / max 309.8919, expressed in 1828 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162200 | 40.2534 | 1825 |
| 162202 | 16.1010 | 1780 |
| 162201 | 2.8543 | 1298 |
| 162203 | 0.3897 | 255 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 97.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.95 | gold quality |
| oocyte | CL:0000023 | 96.78 | gold quality |
| cortical plate | UBERON:0005343 | 96.39 | gold quality |
| secondary oocyte | CL:0000655 | 95.62 | gold quality |
| renal medulla | UBERON:0000362 | 95.19 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.38 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.31 | gold quality |
| lower lobe of lung | UBERON:0008949 | 93.94 | gold quality |
| embryo | UBERON:0000922 | 93.82 | gold quality |
| ventral tegmental area | UBERON:0002691 | 93.82 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.80 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.76 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.73 | gold quality |
| pylorus | UBERON:0001166 | 93.66 | gold quality |
| urethra | UBERON:0000057 | 93.36 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.21 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.19 | gold quality |
| nipple | UBERON:0002030 | 93.16 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.08 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.88 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 92.83 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 92.77 | gold quality |
| parietal lobe | UBERON:0001872 | 92.61 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.58 | gold quality |
| caput epididymis | UBERON:0004358 | 92.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 92.54 | gold quality |
| globus pallidus | UBERON:0001875 | 92.53 | gold quality |
| monocyte | CL:0000576 | 92.48 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.47 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | no | 2.11 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| GLI1 | Repression |
miRNA regulators (miRDB)
318 targeting DCAF7, 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-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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 66.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 9)
- that AN11 may be a physiological regulator of GLI1 transcriptional activity (PMID:16887337)
- Han11 was required to allow coupling of MEKK1 to DYRK1 and HIPK2. (PMID:20940704)
- DYRK1A binds specifically to WDR68 in cells; the binding, but not the phosphorylation event, induces the nuclear translocation of WDR68. (PMID:21777625)
- results demonstrate that the molecular chaperone TRiC/CCT is essential for correct protein folding, DYRK1A binding, and nuclear accumulation of WDR68. (PMID:25342745)
- Immunoprecipitation and pulldown experiments identified DCAF7 as an adaptor for the association of the adenovirus E1A protein with DYRK1A and HIPK2 (PMID:27307198)
- knockdown of DCAF7 reduced the degradation of DNA ligase I in response to inhibition of proliferation and replacement of ubiquitylated lysine residues reduced the in vitro ubiquitylation of DNA ligase I by Cul4-DDB1 and DCAF7. In contrast, a different E3 ubiquitin ligase regulates FEN-1 turnover. (PMID:27573245)
- DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B (PMID:30496304)
- DCAF7 is a novel regulator of ERCC1-XPF protein level and cellular nucleotide excision repair activity. (PMID:31493872)
- MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression. (PMID:36939378)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dcaf7 | ENSDARG00000054355 |
| mus_musculus | Dcaf7 | ENSMUSG00000049354 |
| rattus_norvegicus | Dcaf7 | ENSRNOG00000042245 |
| drosophila_melanogaster | wap | FBGN0266848 |
| caenorhabditis_elegans | WBGENE00009976 | |
| caenorhabditis_elegans | WBGENE00009977 |
Protein
Protein identifiers
DDB1- and CUL4-associated factor 7 — P61962 (reviewed: P61962)
Alternative names: WD repeat-containing protein 68, WD repeat-containing protein An11 homolog
All UniProt accessions (10): A0A087WWI6, A0A8I5KQ63, A0A8I5KRG1, A0A8I5KT41, A0A8I5KTU5, A0A8I5KX45, A0A8I5KXF0, A0A8I5KY66, A0A8I5QKQ1, P61962
UniProt curated annotations — full annotation on UniProt →
Function. Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches. Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Subunit / interactions. Interacts with DYRK1A, DYRK1B and DIAPH1. Interacts with DDB1. Interacts with ZNF703. Interacts with human adenovirus 5 E1A protein.
Subcellular location. Cytoplasm. Nucleus.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the WD repeat DCAF7 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P61962-1 | 1 | yes |
| P61962-2 | 2 |
RefSeq proteins (1): NP_005819* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR045159 | DCAF7-like | Family |
Pfam: PF00400
UniProt features (9 total): repeat 7, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P61962-F1 | 93.35 | 0.87 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis |
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 236 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, ACTACCT_MIR196A_MIR196B, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, BROWNE_HCMV_INFECTION_16HR_UP, MODULE_16, ACTGCAG_MIR173P, AATGGAG_MIR136, ATGTTAA_MIR302C, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_213, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION
GO Biological Process (1): protein ubiquitination (GO:0016567)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear matrix (GO:0016363), nuclear body (GO:0016604), protein-containing complex (GO:0032991), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chaperonin-mediated protein folding | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| protein modification by small protein conjugation | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| cellular_component | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
1528 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCAF7 | PAX6 | P26367 | 993 |
| DCAF7 | DYRK1A | Q13627 | 938 |
| DCAF7 | DDB1 | Q16531 | 888 |
| DCAF7 | DYRK1B | Q9Y463 | 863 |
| DCAF7 | NCOR2 | Q9Y618 | 787 |
| DCAF7 | CUL4A | Q13619 | 777 |
| DCAF7 | CUL4B | Q13620 | 776 |
| DCAF7 | PHB2 | Q99623 | 758 |
| DCAF7 | MAP3K1 | Q13233 | 716 |
| DCAF7 | DYRK4 | Q9NR20 | 699 |
| DCAF7 | HIPK2 | Q9H2X6 | 692 |
| DCAF7 | P4HTM | Q9NXG6 | 651 |
| DCAF7 | RAD54L2 | Q9Y4B4 | 617 |
| DCAF7 | YAF2 | Q8IY57 | 578 |
| DCAF7 | LIN52 | Q52LA3 | 559 |
IntAct
431 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL2 | VHL | psi-mi:“MI:0914”(association) | 0.940 |
| NEDD8 | UBE2M | psi-mi:“MI:0914”(association) | 0.940 |
| DYRK1A | DCAF7 | psi-mi:“MI:0915”(physical association) | 0.940 |
| RYBP | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.900 |
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| CTBP1 | ZEB2 | psi-mi:“MI:0914”(association) | 0.800 |
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| TUBG1 | TUBG1 | psi-mi:“MI:2364”(proximity) | 0.760 |
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| rep | GTF2F2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HTT | DCAF7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DYRK1A | RB1 | psi-mi:“MI:0914”(association) | 0.670 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| PARD3 | PRKCI | psi-mi:“MI:0914”(association) | 0.620 |
| DCAF7 | PFDN6 | psi-mi:“MI:2364”(proximity) | 0.570 |
| DCAF7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
BioGRID (994): DCAF7 (Affinity Capture-MS), DCAF7 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), CCT5 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT8 (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), MAP3K1 (Affinity Capture-MS), TCP1 (Affinity Capture-Western), CCT2 (Affinity Capture-Western), DCAF7 (Affinity Capture-Western)
ESM2 similar proteins: A7YY75, C1BK83, O60907, O89050, P17427, P18484, P61962, P61963, P97834, Q05048, Q08211, Q1JP79, Q28141, Q28D01, Q4FZW5, Q4R8H1, Q58E77, Q5BJQ6, Q5R874, Q5R8K2, Q5RAN6, Q5RB35, Q5U4Y8, Q5ZHN3, Q5ZMV7, Q640J6, Q6GL39, Q6GNF1, Q6GPC6, Q6NV31, Q6TGU2, Q6UXN9, Q7SZM9, Q8BFQ4, Q8BHJ5, Q8C6G8, Q8R2U0, Q92747, Q96EE3, Q99LC2
Diamond homologs: O74763, P61962, P61963, Q12523, Q38960, Q552R1, Q5I0B9, Q676U5, Q9FN19, Q9LPV9, Q9XGN1, Q09028, Q3MHL3, Q5RF92, Q60972, Q9W7I5, F1LTR1, O14021, O22466, O22467, O22468, O22469, O22607, O93377, O94244, O94423, P0CS36, P0CS37, P26309, P39984, P90916, P90917, Q10G81, Q16576, Q24572, Q28D01, Q2UA71, Q2YDS1, Q3B7M6, Q3SWX8
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DCAF7 | “down-regulates quantity by repression” | GLI1 | “transcriptional regulation” |
| DCAF7 | “up-regulates activity” | DYRK1A | binding |
| DCAF7 | “up-regulates activity” | DYRK1B | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 201 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 24.2× | 4e-04 |
| RHO GTPases activate PKNs | 5 | 11.4× | 3e-03 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 5 | 10.8× | 3e-03 |
| Aggrephagy | 6 | 10.7× | 1e-03 |
| Deactivation of the beta-catenin transactivating complex | 6 | 10.1× | 1e-03 |
| Regulation of PLK1 Activity at G2/M Transition | 10 | 9.1× | 1e-04 |
| Loss of Nlp from mitotic centrosomes | 8 | 9.1× | 4e-04 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 8 | 9.1× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic spindle organization | 7 | 10.9× | 1e-03 |
| G1/S transition of mitotic cell cycle | 7 | 8.0× | 6e-03 |
| anatomical structure morphogenesis | 8 | 6.4× | 7e-03 |
| microtubule cytoskeleton organization | 9 | 6.2× | 4e-03 |
| protein phosphorylation | 16 | 6.2× | 1e-05 |
| transcription by RNA polymerase II | 11 | 4.4× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1180 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:63550812:CAAG:C | donor_loss | 1.0000 |
| 17:63550813:AAG:A | donor_loss | 1.0000 |
| 17:63550816:G:GA | donor_loss | 1.0000 |
| 17:63579819:TTGCA:T | acceptor_loss | 1.0000 |
| 17:63579820:TGCA:T | acceptor_loss | 1.0000 |
| 17:63579821:GCAG:G | acceptor_loss | 1.0000 |
| 17:63579822:CAG:C | acceptor_loss | 1.0000 |
| 17:63579823:A:AG | acceptor_gain | 1.0000 |
| 17:63579824:G:GG | acceptor_gain | 1.0000 |
| 17:63579939:AAGAG:A | donor_gain | 1.0000 |
| 17:63579940:AGAG:A | donor_gain | 1.0000 |
| 17:63579941:GAG:G | donor_gain | 1.0000 |
| 17:63579941:GAGG:G | donor_gain | 1.0000 |
| 17:63579942:AGGTA:A | donor_loss | 1.0000 |
| 17:63579944:G:GG | donor_gain | 1.0000 |
| 17:63579944:GTAA:G | donor_loss | 1.0000 |
| 17:63579945:T:G | donor_loss | 1.0000 |
| 17:63585324:TGCAG:T | donor_loss | 1.0000 |
| 17:63585326:CAGG:C | donor_loss | 1.0000 |
| 17:63585327:AGGTA:A | donor_loss | 1.0000 |
| 17:63585328:GGT:G | donor_loss | 1.0000 |
| 17:63585330:T:G | donor_loss | 1.0000 |
| 17:63589165:GAGT:G | donor_gain | 1.0000 |
| 17:63589167:GT:G | donor_gain | 1.0000 |
| 17:63589169:GT:G | donor_gain | 1.0000 |
| 17:63550796:TGGAG:T | donor_gain | 0.9900 |
| 17:63550797:GGAGG:G | donor_gain | 0.9900 |
| 17:63550800:G:GT | donor_gain | 0.9900 |
| 17:63579331:CTTCA:C | acceptor_loss | 0.9900 |
| 17:63579332:TTCA:T | acceptor_loss | 0.9900 |
AlphaMissense
2258 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:63550747:T:A | W24R | 1.000 |
| 17:63550747:T:C | W24R | 1.000 |
| 17:63550781:C:A | A35E | 1.000 |
| 17:63550786:G:C | G37R | 1.000 |
| 17:63550787:G:A | G37D | 1.000 |
| 17:63550789:A:C | S38R | 1.000 |
| 17:63550790:G:T | S38I | 1.000 |
| 17:63550791:C:A | S38R | 1.000 |
| 17:63550791:C:G | S38R | 1.000 |
| 17:63550812:C:A | N45K | 1.000 |
| 17:63550812:C:G | N45K | 1.000 |
| 17:63578471:T:A | V47D | 1.000 |
| 17:63578530:C:G | H67D | 1.000 |
| 17:63578536:T:C | Y69H | 1.000 |
| 17:63578536:T:G | Y69D | 1.000 |
| 17:63578540:C:A | P70H | 1.000 |
| 17:63578557:T:A | W76R | 1.000 |
| 17:63578557:T:C | W76R | 1.000 |
| 17:63578597:C:A | A89E | 1.000 |
| 17:63578600:C:A | T90K | 1.000 |
| 17:63578602:A:C | S91R | 1.000 |
| 17:63578604:C:A | S91R | 1.000 |
| 17:63578604:C:G | S91R | 1.000 |
| 17:63578605:G:C | G92R | 1.000 |
| 17:63578606:G:A | G92D | 1.000 |
| 17:63578608:G:C | D93H | 1.000 |
| 17:63578609:A:T | D93V | 1.000 |
| 17:63578615:T:A | L95H | 1.000 |
| 17:63578615:T:C | L95P | 1.000 |
| 17:63578617:C:A | R96S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000031491 (17:63548881 A>G), RS1000083419 (17:63549102 G>A), RS1000239143 (17:63573829 G>A), RS1000293113 (17:63586612 A>C), RS1000311420 (17:63586376 G>A,T), RS1000426288 (17:63580048 C>G), RS1000578174 (17:63572121 C>A,T), RS1000631864 (17:63572589 G>A), RS1000645707 (17:63584706 G>C), RS1000657073 (17:63585043 G>A), RS1000813091 (17:63560335 T>A,C), RS1000845777 (17:63580169 A>G), RS1000862050 (17:63554043 A>G), RS1000872464 (17:63549018 C>T), RS1000884815 (17:63592274 G>A)
Disease associations
OMIM: gene MIM:605973 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000175_9 | Height | 7.000000e-07 |
| GCST90020028_1438 | Hip circumference adjusted for BMI | 5.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067213 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.78 | Kd | 165.1 | nM | CHEMBL5653589 |
| 6.74 | ED50 | 184.2 | nM | CHEMBL5653589 |
| 6.00 | Kd | 1006 | nM | CHEMBL3752910 |
| 5.95 | ED50 | 1123 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148199: Binding affinity to human DCAF7 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1651 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148199: Binding affinity to human DCAF7 incubated for 45 mins by Kinobead based pull down assay | kd | 1.0064 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Arsenic | affects expression, affects methylation | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | affects cotreatment, decreases expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| torcetrapib | increases expression | 1 |
| belinostat | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651241 | Binding | Binding affinity to human DCAF7 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.