ZFC3H1
gene geneOn this page
Also known as MGC23401KIAA0546CSRC2
Summary
ZFC3H1 (zinc finger C3H1-type containing, HGNC:28328) is a protein-coding gene on chromosome 12q21.1, encoding Zinc finger C3H1 domain-containing protein (O60293). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. It is a selective cancer dependency (DepMap: 64.0% of cell lines).
Predicted to enable zinc ion binding activity. Predicted to be involved in RNA processing. Located in nucleus. Part of MTREC complex.
Source: NCBI Gene 196441 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 272 total — 2 likely-pathogenic
- Cancer dependency (DepMap): dependent in 64.0% of screened cell lines
- MANE Select transcript:
NM_144982
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28328 |
| Approved symbol | ZFC3H1 |
| Name | zinc finger C3H1-type containing |
| Location | 12q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC23401, KIAA0546, CSRC2 |
| Ensembl gene | ENSG00000133858 |
| Ensembl biotype | protein_coding |
| OMIM | 620956 |
| Entrez | 196441 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 retained_intron, 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000378743, ENST00000546475, ENST00000546606, ENST00000546771, ENST00000547398, ENST00000548100, ENST00000549407, ENST00000550712, ENST00000550963, ENST00000551487, ENST00000552037, ENST00000552994
RefSeq mRNA: 1 — MANE Select: NM_144982
NM_144982
CCDS: CCDS41813
Canonical transcript exons
ENST00000378743 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000911420 | 71614834 | 71614938 |
| ENSE00000911421 | 71615206 | 71615316 |
| ENSE00000911424 | 71620210 | 71620315 |
| ENSE00000911425 | 71623360 | 71623597 |
| ENSE00000911426 | 71624104 | 71624292 |
| ENSE00000911427 | 71626260 | 71626446 |
| ENSE00000911428 | 71627751 | 71627934 |
| ENSE00000911429 | 71628918 | 71629037 |
| ENSE00000911430 | 71629609 | 71629710 |
| ENSE00001194725 | 71656885 | 71657301 |
| ENSE00001302274 | 71619926 | 71620124 |
| ENSE00001317255 | 71613335 | 71613435 |
| ENSE00001334271 | 71630600 | 71630721 |
| ENSE00001334272 | 71630823 | 71630954 |
| ENSE00001334276 | 71631778 | 71631887 |
| ENSE00001334280 | 71631972 | 71632514 |
| ENSE00001334284 | 71632886 | 71633017 |
| ENSE00001334287 | 71633264 | 71633438 |
| ENSE00001334290 | 71634155 | 71634304 |
| ENSE00001334291 | 71634704 | 71634825 |
| ENSE00001334294 | 71635443 | 71635580 |
| ENSE00001334295 | 71636490 | 71636654 |
| ENSE00001334297 | 71636850 | 71637059 |
| ENSE00001334298 | 71638418 | 71638515 |
| ENSE00001334299 | 71642436 | 71642559 |
| ENSE00001334301 | 71644095 | 71644318 |
| ENSE00001334303 | 71644877 | 71645075 |
| ENSE00001478591 | 71611058 | 71611097 |
| ENSE00001478593 | 71611786 | 71611887 |
| ENSE00001530932 | 71663013 | 71663848 |
| ENSE00002412458 | 71609599 | 71610565 |
| ENSE00003479568 | 71619315 | 71619409 |
| ENSE00003531872 | 71610695 | 71610757 |
| ENSE00003559968 | 71614535 | 71614700 |
| ENSE00003656002 | 71647749 | 71647813 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 97.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4340 / max 461.1191, expressed in 1803 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 132107 | 11.6002 | 1740 |
| 132108 | 5.6687 | 1650 |
| 132106 | 3.8997 | 1329 |
| 132105 | 0.2654 | 92 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.71 | gold quality |
| male germ cell | CL:0000015 | 96.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.30 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.36 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.27 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.14 | gold quality |
| vagina | UBERON:0000996 | 94.97 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.94 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.79 | gold quality |
| right ovary | UBERON:0002118 | 94.61 | gold quality |
| body of pancreas | UBERON:0001150 | 94.57 | gold quality |
| right lung | UBERON:0002167 | 94.55 | gold quality |
| left ovary | UBERON:0002119 | 94.48 | gold quality |
| spleen | UBERON:0002106 | 94.30 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.17 | gold quality |
| tibial nerve | UBERON:0001323 | 94.12 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.11 | gold quality |
| right uterine tube | UBERON:0001302 | 94.00 | gold quality |
| cerebellum | UBERON:0002037 | 94.00 | gold quality |
| skin of leg | UBERON:0001511 | 93.96 | gold quality |
| body of uterus | UBERON:0009853 | 93.93 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.89 | gold quality |
| ectocervix | UBERON:0012249 | 93.78 | gold quality |
| endocervix | UBERON:0000458 | 93.73 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.73 | gold quality |
| transverse colon | UBERON:0001157 | 93.68 | gold quality |
| monocyte | CL:0000576 | 93.64 | gold quality |
| mononuclear cell | CL:0000842 | 93.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.49 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11011 | no | 424.94 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI2
miRNA regulators (miRDB)
143 targeting ZFC3H1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 64.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- ZFC3H1 participates in the transcriptional activation of IL-8. (PMID:25268596)
- The described is the mRNA degradation poly(A) tail exosome targeting (PAXT) connection, which comprises the ZFC3H1 Zn-knuckle protein as a central link between MTR4 and the nuclear poly(A)-binding protein PABPN1. (PMID:27871484)
- a critical role for Mtr4/ZFC3H1 in nuclear surveillance of naturally unstable lncRNAs to prevent their accumulation, transport to the cytoplasm, and resultant disruption of protein synthesis (PMID:28733371)
- These results establish ZFC3H1 as a central nuclear polyadenylated (+) RNA retention factor, counteracting nuclear export activity. (PMID:29768216)
- Zinc finger C3H1 domain-containing protein (ZFC3H1) evaluates the prognosis and treatment of prostate adenocarcinoma (PRAD): A study based on TCGA data. (PMID:34514952)
- Zinc finger C3H1-type containing serves as a novel prognostic biomarker in human pan-cancer. (PMID:35131366)
- PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs. (PMID:37875486)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfc3h1 | ENSMUSG00000034163 |
| rattus_norvegicus | Zfc3h1 | ENSRNOG00000053060 |
Protein
Protein identifiers
Zinc finger C3H1 domain-containing protein — O60293 (reviewed: O60293)
Alternative names: Coiled-coil domain-containing protein 131, Proline/serine-rich coiled-coil protein 2
All UniProt accessions (2): G3V1X1, O60293
UniProt curated annotations — full annotation on UniProt →
Function. Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters.
Subunit / interactions. Component of the poly(A) tail exosome targeting (PAXT) complex made of accessory factors, such as PABPN1, ZFC3H1 and MTREX, and which directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. Co-localizes with component of the CBC-ARS2 (CBCA) complex. Binds to RNA exosome components. Interacts with NCBP1/CBP80, ZC3H18, MTREX and PABPN1 in a RNase-insensitive manner, and with PABPC4, PABPC1 and ZC3H14 in a RNase-sensitive manner.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60293-1 | 1 | yes |
| O60293-2 | 2 | |
| O60293-4 | 4 |
RefSeq proteins (1): NP_659419* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003107 | HAT | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019607 | Putative_zinc-finger_domain | Domain |
| IPR039278 | Red1 | Family |
Pfam: PF10650
UniProt features (68 total): modified residue 23, compositionally biased region 19, repeat 7, region of interest 6, coiled-coil region 5, splice variant 3, sequence variant 2, initiator methionine 1, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60293-F1 | 58.75 | 0.01 |
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 (23): 2, 15, 28, 34, 128, 251, 352, 383, 662, 714, 717, 719, 766, 805, 809, 948, 949, 953, 998, 1046 …
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 193 (showing top):
FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, AAGCAAT_MIR137, TAATAAT_MIR126, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, MORF_SNRP70, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CATTTCA_MIR203, chr12q21, AAAGGGA_MIR204_MIR211, NIKOLSKY_BREAST_CANCER_12Q13_Q21_AMPLICON, TGAGATT_MIR216, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ATAACCT_MIR154, AGTCAGC_MIR345
GO Biological Process (1): RNA processing (GO:0006396)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), MTREC complex (GO:1990477)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1292 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFC3H1 | PABPN1 | Q86U42 | 977 |
| ZFC3H1 | MTREX | P42285 | 930 |
| ZFC3H1 | RBM7 | Q9Y580 | 821 |
| ZFC3H1 | ZCCHC8 | Q6NZY4 | 812 |
| ZFC3H1 | SRRT | Q9BXP5 | 770 |
| ZFC3H1 | ZCCHC7 | Q8N3Z6 | 716 |
| ZFC3H1 | NRDE2 | Q9H7Z3 | 709 |
| ZFC3H1 | RBM26 | Q5T8P6 | 667 |
| ZFC3H1 | RBM27 | Q9P2N5 | 622 |
| ZFC3H1 | ALYREF | Q86V81 | 615 |
| ZFC3H1 | TENT4B | Q8NDF8 | 607 |
| ZFC3H1 | EXOSC10 | Q01780 | 585 |
| ZFC3H1 | EXOSC3 | Q9NQT5 | 551 |
| ZFC3H1 | DIS3 | Q9Y2L1 | 546 |
| ZFC3H1 | EXOSC4 | Q9NPD3 | 505 |
IntAct
123 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BUB3 | ZNF207 | psi-mi:“MI:0914”(association) | 0.690 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC7 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| PAPOLG | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| ZFC3H1 | RPL36 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZFC3H1 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZFC3H1 | H1-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZFC3H1 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NINL | ZFC3H1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZFC3H1 | CCDC85B | psi-mi:“MI:0915”(physical association) | 0.370 |
| BUB1B | NDC80 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Ddb1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZFC3H1 | UNC119B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (248): ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid), KHDRBS2 (Two-hybrid), CCDC57 (Two-hybrid), ZFC3H1 (Two-hybrid), ZFC3H1 (Affinity Capture-MS), ZFC3H1 (Affinity Capture-MS), ZFC3H1 (Affinity Capture-MS), ZFC3H1 (Two-hybrid), ZFC3H1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GTU1, A2AUY4, B7ZS37, D3Z8Y2, D4A4L4, D4A666, E1B7L7, O46385, O60293, O75152, O95425, P0DQW0, Q08AZ1, Q3KQW7, Q3U1C4, Q3UH68, Q3ZC82, Q4G0F8, Q4V9H5, Q5F3Z9, Q5NBX1, Q5REG6, Q5ZJJ1, Q5ZM88, Q61464, Q62394, Q68FE9, Q6NZF1, Q6PJT7, Q6ZQ03, Q6ZU65, Q76L83, Q7TMD5, Q8BHZ4, Q8BJ05, Q8BLG0, Q8BZ32, Q8C9B9, Q8CCJ9, Q8K298
Diamond homologs: O60293, Q9UTR8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 143 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 |
|---|---|---|---|
| Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA | 5 | 34.1× | 1e-05 |
| Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA | 5 | 34.1× | 1e-05 |
| Nuclear RNA decay | 7 | 23.2× | 1e-06 |
| ATF4 activates genes in response to endoplasmic reticulum stress | 5 | 21.9× | 1e-04 |
| mRNA 3’-end processing | 8 | 16.9× | 1e-06 |
| mRNA Polyadenylation | 13 | 12.3× | 6e-09 |
| mRNA Splicing | 10 | 11.8× | 1e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 13 | 11.5× | 9e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA transport | 6 | 13.1× | 7e-04 |
| RNA processing | 7 | 12.7× | 2e-04 |
| mRNA splicing, via spliceosome | 15 | 11.3× | 3e-09 |
| cytoplasmic translation | 7 | 10.7× | 5e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 10.1× | 6e-03 |
| negative regulation of translation | 6 | 9.7× | 2e-03 |
| rRNA processing | 8 | 9.4× | 3e-04 |
| RNA splicing | 12 | 8.8× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
272 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 213 |
| Likely benign | 6 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 599528 | NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro) | Likely pathogenic |
| 599529 | NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His) | Likely pathogenic |
SpliceAI
5101 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:71610694:CAT:C | donor_gain | 1.0000 |
| 12:71610696:T:TA | donor_gain | 1.0000 |
| 12:71610700:T:A | donor_gain | 1.0000 |
| 12:71611784:A:AC | donor_gain | 1.0000 |
| 12:71611785:C:CC | donor_gain | 1.0000 |
| 12:71612219:T:A | donor_gain | 1.0000 |
| 12:71613329:TCTTA:T | donor_loss | 1.0000 |
| 12:71613330:CTTA:C | donor_loss | 1.0000 |
| 12:71613331:TTA:T | donor_loss | 1.0000 |
| 12:71613332:TACC:T | donor_loss | 1.0000 |
| 12:71613333:ACC:A | donor_loss | 1.0000 |
| 12:71614533:AC:A | donor_gain | 1.0000 |
| 12:71614534:CC:C | donor_gain | 1.0000 |
| 12:71614701:C:CC | acceptor_gain | 1.0000 |
| 12:71614832:A:AC | donor_gain | 1.0000 |
| 12:71614833:C:CC | donor_gain | 1.0000 |
| 12:71623355:CTTA:C | donor_loss | 1.0000 |
| 12:71623356:TTA:T | donor_loss | 1.0000 |
| 12:71623357:TACC:T | donor_loss | 1.0000 |
| 12:71623358:ACCT:A | donor_loss | 1.0000 |
| 12:71623359:CCTT:C | donor_gain | 1.0000 |
| 12:71626246:T:C | donor_gain | 1.0000 |
| 12:71626254:ACT:A | donor_loss | 1.0000 |
| 12:71626255:CTC:C | donor_loss | 1.0000 |
| 12:71626256:TCAC:T | donor_loss | 1.0000 |
| 12:71626257:C:CG | donor_loss | 1.0000 |
| 12:71626258:A:AC | donor_gain | 1.0000 |
| 12:71626258:ACAGT:A | donor_gain | 1.0000 |
| 12:71626259:C:CA | donor_gain | 1.0000 |
| 12:71626259:CA:C | donor_gain | 1.0000 |
AlphaMissense
13076 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:71627781:A:G | L1367P | 1.000 |
| 12:71630845:A:G | C1194R | 1.000 |
| 12:71630869:A:G | C1186R | 1.000 |
| 12:71632417:A:G | L972P | 1.000 |
| 12:71636887:A:G | L633P | 1.000 |
| 12:71636890:A:G | L632P | 1.000 |
| 12:71636899:C:G | R629P | 1.000 |
| 12:71636902:A:G | L628P | 1.000 |
| 12:71644134:G:C | F488L | 1.000 |
| 12:71644134:G:T | F488L | 1.000 |
| 12:71644135:A:C | F488C | 1.000 |
| 12:71644135:A:G | F488S | 1.000 |
| 12:71644136:A:G | F488L | 1.000 |
| 12:71644138:C:G | R487P | 1.000 |
| 12:71644165:A:G | L478P | 1.000 |
| 12:71644171:C:G | R476P | 1.000 |
| 12:71645020:A:G | L379P | 1.000 |
| 12:71645029:A:G | L376P | 1.000 |
| 12:71645035:A:G | L374P | 1.000 |
| 12:71657184:A:G | L239P | 1.000 |
| 12:71610703:A:G | W1942R | 0.999 |
| 12:71610703:A:T | W1942R | 0.999 |
| 12:71611793:A:G | W1908R | 0.999 |
| 12:71611793:A:T | W1908R | 0.999 |
| 12:71614613:A:C | C1816W | 0.999 |
| 12:71614615:A:G | C1816R | 0.999 |
| 12:71626297:G:T | A1427D | 0.999 |
| 12:71626298:C:G | A1427P | 0.999 |
| 12:71626354:A:G | L1408P | 0.999 |
| 12:71626358:A:C | Y1407D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002241 (12:71645514 T>C,G), RS1000034723 (12:71645170 T>C), RS1000047184 (12:71629814 T>C), RS1000055415 (12:71640194 G>A,C), RS1000066041 (12:71619477 GAAA>G,GAA,GAAAA), RS1000119192 (12:71642841 T>A), RS1000317736 (12:71632819 T>C,G), RS1000409901 (12:71613909 A>G), RS1000426607 (12:71638280 C>A), RS1000549378 (12:71626724 C>T), RS1000592359 (12:71650118 G>A), RS1000647884 (12:71631195 C>A,G), RS1000662477 (12:71651520 T>G), RS1000736271 (12:71656044 G>C,T), RS1000757913 (12:71638793 C>A)
Disease associations
OMIM: gene MIM:620956 | 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 |
|---|---|---|
| GCST010796_3125 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_3176 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases expression | 2 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression, affects expression | 2 |
| Formaldehyde | increases expression | 2 |
| Nickel | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
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.