FLYWCH1
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Also known as DKFZp761A132
Summary
FLYWCH1 (FLYWCH-type zinc finger 1, HGNC:25404) is a protein-coding gene on chromosome 16p13.3, encoding FLYWCH-type zinc finger-containing protein 1 (Q4VC44). Transcription cofactor.
Enables transcription coactivator binding activity and transcription corepressor activity. Involved in DNA damage response and negative regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and pericentric heterochromatin. Part of transcription regulator complex.
Source: NCBI Gene 84256 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 261 total — 1 pathogenic
- MANE Select transcript:
NM_001308068
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25404 |
| Approved symbol | FLYWCH1 |
| Name | FLYWCH-type zinc finger 1 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp761A132 |
| Ensembl gene | ENSG00000059122 |
| Ensembl biotype | protein_coding |
| OMIM | 620431 |
| Entrez | 84256 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 35 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000253928, ENST00000344592, ENST00000416288, ENST00000570425, ENST00000570752, ENST00000570759, ENST00000571140, ENST00000571580, ENST00000571983, ENST00000573525, ENST00000573564, ENST00000574985, ENST00000575604, ENST00000575679, ENST00000905924, ENST00000905925, ENST00000905926, ENST00000905927, ENST00000905928, ENST00000905929, ENST00000905930, ENST00000905931, ENST00000905932, ENST00000905933, ENST00000905934, ENST00000905935, ENST00000905936, ENST00000905937, ENST00000905938, ENST00000944619, ENST00000944620, ENST00000944621, ENST00000944622, ENST00000944623, ENST00000944624, ENST00000944625, ENST00000944626, ENST00000944627, ENST00000944628, ENST00000944629
RefSeq mRNA: 3 — MANE Select: NM_001308068
NM_001308068, NM_020912, NM_032296
CCDS: CCDS45390, CCDS76809
Canonical transcript exons
ENST00000253928 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000664466 | 2933716 | 2933979 |
| ENSE00001158896 | 2933130 | 2933582 |
| ENSE00001280703 | 2930410 | 2930880 |
| ENSE00001423348 | 2914176 | 2914289 |
| ENSE00001693676 | 2929613 | 2930010 |
| ENSE00002638091 | 2948688 | 2951208 |
| ENSE00002642277 | 2911931 | 2912154 |
| ENSE00003489377 | 2937121 | 2937384 |
| ENSE00003635884 | 2940032 | 2940092 |
| ENSE00003689820 | 2938184 | 2938456 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 95.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3815 / max 155.8396, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152338 | 9.1004 | 1773 |
| 152337 | 3.1002 | 1468 |
| 152336 | 0.1809 | 64 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.97 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.87 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.75 | gold quality |
| right uterine tube | UBERON:0001302 | 95.67 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.41 | gold quality |
| cerebellum | UBERON:0002037 | 94.99 | gold quality |
| right coronary artery | UBERON:0001625 | 94.85 | gold quality |
| apex of heart | UBERON:0002098 | 94.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.23 | gold quality |
| granulocyte | CL:0000094 | 94.08 | gold quality |
| tibial nerve | UBERON:0001323 | 94.04 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.62 | gold quality |
| right ovary | UBERON:0002118 | 93.49 | gold quality |
| ectocervix | UBERON:0012249 | 93.31 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.21 | gold quality |
| sural nerve | UBERON:0015488 | 93.19 | gold quality |
| skin of leg | UBERON:0001511 | 93.09 | gold quality |
| hypothalamus | UBERON:0001898 | 93.03 | gold quality |
| left ovary | UBERON:0002119 | 93.02 | gold quality |
| kidney epithelium | UBERON:0004819 | 92.92 | silver quality |
| adenohypophysis | UBERON:0002196 | 92.84 | gold quality |
| spinal cord | UBERON:0002240 | 92.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.77 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.74 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.72 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.63 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.60 | gold quality |
| spleen | UBERON:0002106 | 92.56 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.54 | gold quality |
| lower esophagus | UBERON:0013473 | 92.52 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.11 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| ZEB1 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2513.1 | FLYWCH1 | FLYWCH1 |
JASPAR matrix evidence (PMIDs): PMID:39605530
miRNA regulators (miRDB)
45 targeting FLYWCH1, 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-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-12114 | 98.70 | 63.45 | 730 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-3928-5P | 98.50 | 67.48 | 980 |
| HSA-MIR-6806-3P | 98.50 | 67.31 | 980 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
Literature-anchored findings (GeneRIF, showing 6)
- Identifies the human FLYWCH1 protein (AB046772/KIAA1552) as containing five FLYWCH domain copies. (PMID:15094203)
- eQTLs acting across multiple tissues are significant carriers of inherited risk for CAD. FLYWCH1, PSORSIC3, and G3BP1 are novel master regulatory genes in CAD that may be suitable targets. (PMID:25578447)
- FLYWCH1 variant of uncertain significance in candidate gene was identified in Familial Mitral Valve Prolapse. (PMID:29762926)
- Study uncovers a new molecular mechanism by which FLYWCH1 with a possible tumor suppressive role represses beta-catenin-induced ZEB1 and increases cadherin-mediated cell attachment preventing colorectal cancer metastasis. (PMID:30097457)
- we identify for the first time FLYWCH1 as a potential negative regulator of the downstream targets of the Wnt/beta-catenin pathway in AML cells. Hence, FLYWCH1 might be an intrinsic inhibitory factor of the oncogenic nuclear beta-catenin in AML cells. (PMID:31167387)
- FLYWCH1, a Multi-Functional Zinc Finger Protein Contributes to the DNA Repair Pathway. (PMID:33924684)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Flywch1 | ENSMUSG00000040097 |
| rattus_norvegicus | Flywch1 | ENSRNOG00000004333 |
Paralogs (1): FLYWCH2 (ENSG00000162076)
Protein
Protein identifiers
FLYWCH-type zinc finger-containing protein 1 — Q4VC44 (reviewed: Q4VC44)
All UniProt accessions (8): Q4VC44, I3L0R3, I3L188, I3L1A7, I3L231, I3L287, I3L4V9, J3KNW1
UniProt curated annotations — full annotation on UniProt →
Function. Transcription cofactor. Negatively regulates transcription activation by catenin beta-1 CTNNB1, perhaps acting by competing with TCF4 for CTNNB1 binding. May play a role in DNA-damage response signaling. Binds specifically to DNA sequences at peri-centromeric chromatin loci.
Subunit / interactions. Interacts with CTNNB1 (when unphosphorylated), perhaps preventing interaction of CTNNB1 with TCF4, and thereby regulating transcription activation; phosphorylation of CTNNB1 may inhibit the interaction.
Subcellular location. Nucleus. Chromosome. Centromere.
Induction. Up-regulated by ultraviolet (UV) light (at protein level).
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4VC44-1 | 1 | yes |
| Q4VC44-2 | 2 | |
| Q4VC44-3 | 3 | |
| Q4VC44-4 | 4 | |
| Q4VC44-5 | 5 |
RefSeq proteins (3): NP_001294997, NP_065963, NP_115672 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007588 | Znf_FLYWCH | Domain |
| IPR029279 | FLYWCH_N | Domain |
| IPR040312 | FWCH1/FWCH2 | Family |
Pfam: PF04500, PF15423, PF16662
UniProt features (34 total): modified residue 6, strand 6, zinc finger region 5, splice variant 5, cross-link 3, region of interest 3, helix 2, chain 1, sequence conflict 1, turn 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2RPR | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4VC44-F1 | 64.71 | 0.15 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (9): 21, 261, 371, 503, 591, 696, 134, 393, 685
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 71 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, RICKMAN_METASTASIS_DN, GOBP_DNA_DAMAGE_RESPONSE, CUI_TCF21_TARGETS_2_UP, AP4_01, LEIN_NEURON_MARKERS, GOCC_CHROMOSOMAL_REGION, GOCC_NUCLEAR_BODY, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_PERICENTRIC_HETEROCHROMATIN, GOCC_HETEROCHROMATIN, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_TRANSCRIPTION_COREGULATOR_BINDING, GOMF_TRANSCRIPTION_COACTIVATOR_BINDING, GOMF_TRANSCRIPTION_FACTOR_BINDING
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA damage response (GO:0006974)
GO Molecular Function (6): transcription coactivator binding (GO:0001223), DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), pericentric heterochromatin (GO:0005721), cytosol (GO:0005829), nuclear body (GO:0016604), chromosome, centromeric region (GO:0000775), nucleus (GO:0005634), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| intracellular membraneless organelle | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| cellular response to stress | 1 |
| transcription coregulator binding | 1 |
| nucleic acid binding | 1 |
| transcription coregulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| protein-containing complex | 1 |
| chromosome, centromeric region | 1 |
| heterochromatin | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| chromosomal region | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FLYWCH1 | PAQR4 | Q8N4S7 | 478 |
| FLYWCH1 | CFAP58 | Q5T655 | 459 |
| FLYWCH1 | PRSS33 | Q8NF86 | 418 |
| FLYWCH1 | HCFC1R1 | Q9NWW0 | 414 |
| FLYWCH1 | RERGL | Q9H628 | 400 |
| FLYWCH1 | PRSS41 | Q7RTY9 | 398 |
| FLYWCH1 | RNF169 | Q8NCN4 | 392 |
| FLYWCH1 | BICDL2 | A1A5D9 | 380 |
| FLYWCH1 | PURG | Q9UJV8 | 375 |
| FLYWCH1 | TMEM235 | A6NFC5 | 370 |
| FLYWCH1 | OR1C1 | Q15619 | 367 |
| FLYWCH1 | KREMEN2 | Q8NCW0 | 358 |
| FLYWCH1 | ANKRD9 | Q96BM1 | 356 |
| FLYWCH1 | RFTN2 | Q52LD8 | 339 |
| FLYWCH1 | PKMYT1 | Q99640 | 339 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOLGA6L9 | FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | GMCL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HSF2BP | FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHX2 | FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | CCDC125 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | HOOK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | KIFC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLYWCH1 | PPP1R16B | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLOD3 | COL4A1 | psi-mi:“MI:0914”(association) | 0.530 |
| HTATSF1 | FLYWCH1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FLYWCH1 | HMGN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Dctn3 | psi-mi:“MI:0914”(association) | 0.350 | |
| Mad2l1 | MAD1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF11 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| Hsf1 | OFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| Gpkow | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ufl1 | PRSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| NFATC1 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| PTBP3 | psi-mi:“MI:0914”(association) | 0.350 | |
| MDC1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FLYWCH1 | GOLGA6L9 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (40): FLYWCH1 (Affinity Capture-MS), HTATSF1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Affinity Capture-MS), FLYWCH1 (Proximity Label-MS), FLYWCH1 (Affinity Capture-MS), SETDB1 (Two-hybrid), GMCL1 (Two-hybrid), HOOK2 (Two-hybrid)
ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A5D7L8, A6NEF3, A6NI86, B2KFW1, B4DH59, D3YZV8, E9Q6E9, F1LWT0, F6QRE9, H0YKK7, O15069, P17040, P17564, P21263, P51843, P62521, P79386, Q0P6D6, Q13342, Q2EG98, Q2KI51, Q3BBV2, Q4VC44, Q5F378, Q5QGU6, Q63560, Q6ITT4, Q6P5H2, Q6ZQX7, Q86T75, Q8CHD8, Q8IWY8, Q8N660, Q8N693, Q99PG2, Q9BE18, Q9BG93, Q9BG94
Diamond homologs: Q4VC44, Q5R9P4, Q8CI03, Q96CP2, Q9CQE9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
261 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 211 |
| Likely benign | 19 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3243524 | NC_000016.9:g.(?2550259)(3154076_?)del | Pathogenic |
SpliceAI
2054 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:2912136:G:T | donor_gain | 1.0000 |
| 16:2930876:GCTGG:G | donor_gain | 1.0000 |
| 16:2930878:TGG:T | donor_gain | 1.0000 |
| 16:2930879:GG:G | donor_gain | 1.0000 |
| 16:2930879:GGG:G | donor_gain | 1.0000 |
| 16:2930879:GGGT:G | donor_loss | 1.0000 |
| 16:2930880:GG:G | donor_gain | 1.0000 |
| 16:2930880:GGT:G | donor_loss | 1.0000 |
| 16:2930881:G:GG | donor_gain | 1.0000 |
| 16:2933124:CTCTA:C | acceptor_loss | 1.0000 |
| 16:2933125:TCTA:T | acceptor_loss | 1.0000 |
| 16:2933126:CTAG:C | acceptor_loss | 1.0000 |
| 16:2933127:TAGG:T | acceptor_loss | 1.0000 |
| 16:2933128:A:AG | acceptor_gain | 1.0000 |
| 16:2933128:AG:A | acceptor_gain | 1.0000 |
| 16:2933129:G:GA | acceptor_gain | 1.0000 |
| 16:2933129:G:T | acceptor_loss | 1.0000 |
| 16:2933129:GG:G | acceptor_gain | 1.0000 |
| 16:2933129:GGA:G | acceptor_gain | 1.0000 |
| 16:2933129:GGAC:G | acceptor_gain | 1.0000 |
| 16:2933129:GGACA:G | acceptor_gain | 1.0000 |
| 16:2933580:CGGGT:C | donor_loss | 1.0000 |
| 16:2933582:GGTGA:G | donor_loss | 1.0000 |
| 16:2933583:G:A | donor_loss | 1.0000 |
| 16:2933583:G:GG | donor_gain | 1.0000 |
| 16:2933584:T:G | donor_loss | 1.0000 |
| 16:2937385:G:GA | donor_loss | 1.0000 |
| 16:2937385:G:GG | donor_gain | 1.0000 |
| 16:2938178:TTTCA:T | acceptor_loss | 1.0000 |
| 16:2938179:TTCAG:T | acceptor_loss | 1.0000 |
AlphaMissense
4593 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:2937219:T:A | W538R | 1.000 |
| 16:2937219:T:C | W538R | 1.000 |
| 16:2933814:T:A | W450R | 0.999 |
| 16:2933814:T:C | W450R | 0.999 |
| 16:2933816:G:C | W450C | 0.999 |
| 16:2933816:G:T | W450C | 0.999 |
| 16:2937163:T:C | L519P | 0.999 |
| 16:2937177:T:C | F524L | 0.999 |
| 16:2937179:C:A | F524L | 0.999 |
| 16:2937179:C:G | F524L | 0.999 |
| 16:2937183:T:G | Y526D | 0.999 |
| 16:2937221:G:C | W538C | 0.999 |
| 16:2937221:G:T | W538C | 0.999 |
| 16:2937225:T:C | C540R | 0.999 |
| 16:2937227:C:G | C540W | 0.999 |
| 16:2937249:T:C | C548R | 0.999 |
| 16:2937255:A:C | S550R | 0.999 |
| 16:2937257:C:A | S550R | 0.999 |
| 16:2937257:C:G | S550R | 0.999 |
| 16:2937262:C:A | A552D | 0.999 |
| 16:2938255:T:G | Y617D | 0.999 |
| 16:2938291:T:A | W629R | 0.999 |
| 16:2938291:T:C | W629R | 0.999 |
| 16:2938293:G:C | W629C | 0.999 |
| 16:2938293:G:T | W629C | 0.999 |
| 16:2938297:T:A | C631S | 0.999 |
| 16:2938297:T:C | C631R | 0.999 |
| 16:2938298:G:C | C631S | 0.999 |
| 16:2938299:C:G | C631W | 0.999 |
| 16:2938321:T:C | C639R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000041829 (16:2917957 C>A), RS1000186042 (16:2951332 GCCT>G), RS1000240596 (16:2917836 G>C,T), RS1000280817 (16:2932327 G>T), RS1000297428 (16:2917529 G>A,T), RS1000357701 (16:2937574 T>G), RS1000401570 (16:2913262 T>C), RS1000404055 (16:2926348 A>C), RS1000421486 (16:2921791 T>G), RS1000623650 (16:2933052 C>A,T), RS1000728078 (16:2914163 A>C,G), RS1000739076 (16:2938560 G>A,T), RS1000817380 (16:2939116 T>A), RS1000878396 (16:2925823 C>T), RS1001034503 (16:2938899 A>C)
Disease associations
OMIM: gene MIM:620431 | disease phenotypes: MIM:308350, MIM:616044, MIM:180860
GenCC curated gene-disease
Mondo (3): developmental and epileptic encephalopathy, 1 (MONDO:0010632), autosomal dominant nonsyndromic hearing loss 65 (MONDO:0014470), Silver-Russell syndrome (MONDO:0008394)
Orphanet (2): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Silver-Russell syndrome (Orphanet:813)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003262_490 | Post bronchodilator FEV1 | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D056730 | Silver-Russell Syndrome | C05.660.207.925; C16.131.077.855; C16.131.260.870; C16.320.180.870; C16.320.240.937; C16.320.447.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Valproic Acid | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| propionaldehyde | increases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1S8 | Abcam HeLa FLYWCH1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06457906 | PHASE3 | RECRUITING | SRS/SRT/Hypo-RT Versus HA-WBRT for No More Than 10 Brain Metastases in SCLC |
| NCT04180501 | PHASE2 | UNKNOWN | SRS Sequential Sindilimab in Brain Metastasis of NSLSC |
| NCT04899908 | PHASE2 | ACTIVE_NOT_RECRUITING | Stereotactic Brain-directed Radiation With or Without Aguix Gadolinium-Based Nanoparticles in Brain Metastases |
| NCT07162246 | PHASE2 | RECRUITING | Combined Gamma Knife/Linac Radiosurgery for Large Brain Tumors / Metastases |
| NCT01520467 | Not specified | UNKNOWN | Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome |
| NCT03915106 | Not specified | RECRUITING | Quality of Life (HRQoL) of AIS Patients Who Require Bracing or Surgery Using SRS-22 Questionnaire |
| NCT05070234 | Not specified | UNKNOWN | Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature |
| NCT05945576 | Not specified | RECRUITING | IDMet (RaDiCo Cohort) (RaDiCo-IDMet) |
| NCT06466720 | Not specified | ACTIVE_NOT_RECRUITING | Measuring and Mapping Cognitive Decline After Brain Radiosurgery |
| NCT06852001 | Not specified | NOT_YET_RECRUITING | Efficacy of the RayerKnife X Stereotactic Radiotherapy System in the Treatment of Brain Metastases |
| NCT07405112 | Not specified | COMPLETED | Impact of Curve Magnitude on Pain and Body Image in Patients With Adolescents Idiopathic Scoliosis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant nonsyndromic hearing loss 65, developmental and epileptic encephalopathy, 1, Silver-Russell syndrome