ZC3H13
gene geneOn this page
Also known as DKFZp434D1812Xio
Summary
ZC3H13 (zinc finger CCCH-type containing 13, HGNC:20368) is a protein-coding gene on chromosome 13q14.13, encoding Zinc finger CCCH domain-containing protein 13 (Q5T200). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. It is a selective cancer dependency (DepMap: 30.5% of cell lines).
Enables RNA binding activity. Involved in mRNA processing. Located in nuclear speck. Part of RNA N6-methyladenosine methyltransferase complex.
Source: NCBI Gene 23091 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 220 total
- Cancer dependency (DepMap): dependent in 30.5% of screened cell lines
- MANE Select transcript:
NM_001330564
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20368 |
| Approved symbol | ZC3H13 |
| Name | zinc finger CCCH-type containing 13 |
| Location | 13q14.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434D1812, Xio |
| Ensembl gene | ENSG00000123200 |
| Ensembl biotype | protein_coding |
| OMIM | 616453 |
| Entrez | 23091 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 26 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000242848, ENST00000282007, ENST00000428921, ENST00000464597, ENST00000470308, ENST00000679008, ENST00000929085, ENST00000929086, ENST00000929087, ENST00000929088, ENST00000929089, ENST00000929090, ENST00000929091, ENST00000929092, ENST00000929094, ENST00000929095, ENST00000929096, ENST00000929097, ENST00000929098, ENST00000929099, ENST00000929100, ENST00000929101, ENST00000929102, ENST00000929103, ENST00000929104, ENST00000929105, ENST00000929106, ENST00000929107
RefSeq mRNA: 15 — MANE Select: NM_001330564
NM_001076788, NM_001330564, NM_001330565, NM_001330566, NM_001330567, NM_001382206, NM_001382207, NM_001382208, NM_001382209, NM_001382210, NM_001382211, NM_001382212, NM_001382213, NM_001382214, NM_015070
CCDS: CCDS81766, CCDS91804, CCDS9400
Canonical transcript exons
ENST00000679008 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130342 | 45963842 | 45964042 |
| ENSE00001130349 | 45965280 | 45965432 |
| ENSE00001130365 | 45968748 | 45969971 |
| ENSE00001180285 | 45954465 | 45957297 |
| ENSE00001244878 | 45959483 | 45959646 |
| ENSE00001244894 | 45967504 | 45968028 |
| ENSE00001479355 | 46052404 | 46052746 |
| ENSE00001596141 | 45970362 | 45970465 |
| ENSE00001622638 | 46020449 | 46020557 |
| ENSE00001668949 | 45975283 | 45975838 |
| ENSE00001718452 | 46011415 | 46011554 |
| ENSE00001722138 | 45988787 | 45989097 |
| ENSE00001736769 | 46044955 | 46045064 |
| ENSE00001757400 | 45985297 | 45985761 |
| ENSE00001785865 | 45979813 | 45980004 |
| ENSE00002204906 | 46042164 | 46042275 |
| ENSE00003619090 | 46010348 | 46010505 |
| ENSE00003664848 | 46003139 | 46003336 |
| ENSE00003908294 | 46045391 | 46045516 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 97.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.5773 / max 4559.0289, expressed in 1813 samples.
FANTOM5 promoters (25 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137154 | 33.1312 | 1812 |
| 137116 | 1.6344 | 737 |
| 137128 | 1.1444 | 341 |
| 137146 | 0.8259 | 331 |
| 137118 | 0.7962 | 272 |
| 137127 | 0.7947 | 297 |
| 137125 | 0.7146 | 296 |
| 137115 | 0.7052 | 323 |
| 137138 | 0.6287 | 262 |
| 137112 | 0.5951 | 250 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 97.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.96 | gold quality |
| secondary oocyte | CL:0000655 | 94.20 | gold quality |
| tibia | UBERON:0000979 | 93.67 | gold quality |
| corpus callosum | UBERON:0002336 | 93.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 93.25 | gold quality |
| cranial nerve II | UBERON:0000941 | 92.95 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.92 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.85 | gold quality |
| cortical plate | UBERON:0005343 | 92.77 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.51 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.49 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 92.29 | gold quality |
| embryo | UBERON:0000922 | 91.81 | gold quality |
| blood vessel layer | UBERON:0004797 | 91.75 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.74 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.60 | gold quality |
| parietal pleura | UBERON:0002400 | 91.55 | gold quality |
| gluteal muscle | UBERON:0002000 | 91.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.44 | gold quality |
| caput epididymis | UBERON:0004358 | 91.37 | gold quality |
| oocyte | CL:0000023 | 91.35 | gold quality |
| pleura | UBERON:0000977 | 91.34 | gold quality |
| liver | UBERON:0002107 | 91.33 | gold quality |
| medulla oblongata | UBERON:0001896 | 91.21 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.18 | gold quality |
| visceral pleura | UBERON:0002401 | 91.18 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.11 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.03 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.94 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7606 | no | 347.97 |
| E-CURD-112 | no | 2.19 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
101 targeting ZC3H13, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 30.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 9)
- This study identified ZC3H13 significantly associated loci with a biologically plausible role in schizophrenia. (PMID:24507884)
- The current study indicated that ZC3H13 may be an upstream regulator of Ras-ERK signaling pathway and suppressed invasion and proliferation of colorectal cancer. (PMID:30311220)
- ZC3H13-mediated N6-methyladenosine modification of PHF10 is impaired by fisetin which inhibits the DNA damage response in pancreatic cancer. (PMID:35033590)
- Downregulation of ZC3H13 by miR-362-3p/miR-425-5p is associated with a poor prognosis and adverse outcomes in hepatocellular carcinoma. (PMID:35278064)
- N(6)-methyladenosine modification of CENPK mRNA by ZC3H13 promotes cervical cancer stemness and chemoresistance. (PMID:35418160)
- Identification and validation of the N6-methyladenosine RNA methylation regulator ZC3H13 as a novel prognostic marker and potential target for hepatocellular carcinoma. (PMID:35582419)
- Enterovirus 71 VP1 promotes 5-HT release by upregulating the expression of ERICH3 and methyltransferase ZC3H13. (PMID:35660571)
- ZC3H13 reduced DUOX1-mediated ferroptosis in laryngeal squamous cell carcinoma cells through m6A-dependent modification. (PMID:37536262)
- ZC3H13 Accelerates Keloid Formation by Mediating N[6]-methyladenosine Modification of HIPK2. (PMID:37752292)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zc3h13 | ENSDARG00000037177 |
| mus_musculus | Zc3h13 | ENSMUSG00000022000 |
| rattus_norvegicus | Zc3h13 | ENSRNOG00000011237 |
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 13 — Q5T200 (reviewed: Q5T200)
All UniProt accessions (3): A0A087WX14, A0A7I2V4I5, Q5T200
UniProt curated annotations — full annotation on UniProt →
Function. Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3’-UTR. Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation. In the WMM complex, anchors component of the MACOM subcomplex in the nucleus. Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B).
Subunit / interactions. Component of the WMM complex, a N6-methyltransferase complex composed of a catalytic subcomplex, named MAC, and of an associated subcomplex, named MACOM. The MAC subcomplex is composed of METTL3 and METTL14. The MACOM subcomplex is composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, and, in some cases of RBM15 (RBM15 or RBM15B). Also a component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, RBM15, BCLAF1 and THRAP3.
Subcellular location. Nucleus speckle. Nucleus. Nucleoplasm.
Similarity. Belongs to the ZC3H13 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T200-1 | 1 | yes |
| Q5T200-2 | 2 |
RefSeq proteins (15): NP_001070256, NP_001317493, NP_001317494, NP_001317495, NP_001317496, NP_001369135, NP_001369136, NP_001369137, NP_001369138, NP_001369139, NP_001369140, NP_001369141, NP_001369142, NP_001369143, NP_055885 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR052824 | m6A_RNA_Methylation_Regulator | Family |
Pfam: PF00642
UniProt features (109 total): modified residue 55, compositionally biased region 26, helix 8, region of interest 4, strand 3, splice variant 3, coiled-coil region 2, cross-link 2, sequence conflict 2, chain 1, zinc finger region 1, turn 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7VF2 | ELECTRON MICROSCOPY | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T200-F1 | 47.73 | 0.03 |
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 (57): 1453, 1456, 1466, 64, 77, 198, 207, 209, 211, 237, 238, 242, 263, 265, 316, 318, 325, 328, 354, 364 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 126 (showing top):
WEI_MYCN_TARGETS_WITH_E_BOX, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_RNA_SPLICING, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, RIGGI_EWING_SARCOMA_PROGENITOR_UP, chr13q14, TGGAAA_NFAT_Q4_01, GOCC_NUCLEAR_SPECK, GOCC_TRANSFERASE_COMPLEX, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_METHYLTRANSFERASE_COMPLEX, SCGGAAGY_ELK1_02
GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of stem cell population maintenance (GO:2000036)
GO Molecular Function (4): RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), RNA N6-methyladenosine methyltransferase complex (GO:0036396)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| stem cell population maintenance | 1 |
| regulation of developmental process | 1 |
| regulation of multicellular organismal process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| methyltransferase complex | 1 |
Protein interactions and networks
STRING
2152 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H13 | WTAP | Q15007 | 998 |
| ZC3H13 | VIRMA | Q69YN4 | 998 |
| ZC3H13 | CBLL1 | Q75N03 | 998 |
| ZC3H13 | METTL3 | Q86U44 | 998 |
| ZC3H13 | RBM15B | Q8NDT2 | 998 |
| ZC3H13 | RBM15 | Q96T37 | 998 |
| ZC3H13 | METTL14 | Q9HCE5 | 998 |
| ZC3H13 | METTL16 | Q86W50 | 997 |
| ZC3H13 | ZCCHC4 | Q9H5U6 | 946 |
| ZC3H13 | YTHDC1 | Q96MU7 | 934 |
| ZC3H13 | METTL5 | Q9NRN9 | 924 |
| ZC3H13 | YTHDC2 | Q9H6S0 | 896 |
| ZC3H13 | ALKBH5 | Q6P6C2 | 891 |
| ZC3H13 | YTHDF1 | Q9BYJ9 | 885 |
| ZC3H13 | YTHDF2 | Q9Y5A9 | 854 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| CHD8 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| ZC3H13 | PTGES3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H13 | RAB34 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H13 | PDCD11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H13 | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| MZT1 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| ID1 | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF26B | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| CBR1 | DENND3 | psi-mi:“MI:0914”(association) | 0.350 |
| METTL3 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| WTAP | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| METTL14 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| METTL3 | TRIM28 | psi-mi:“MI:0914”(association) | 0.350 |
| METTL14 | TRIM28 | psi-mi:“MI:0914”(association) | 0.350 |
| WTAP | TRIM28 | psi-mi:“MI:0914”(association) | 0.350 |
| VIRMA | WTAP | psi-mi:“MI:0914”(association) | 0.350 |
| CLK3 | USP9Y | psi-mi:“MI:0914”(association) | 0.350 |
| CBLL2 | SRSF10 | psi-mi:“MI:0914”(association) | 0.350 |
| GAN | ZMYM3 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| DDOST | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| OST4 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF40 | HNRNPR | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAG | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (201): ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Co-fractionation), ZC3H13 (Co-fractionation), ZC3H13 (Synthetic Lethality), ZC3H13 (Biochemical Activity), ZC3H13 (Biochemical Activity), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS)
ESM2 similar proteins: A2AR02, A6QLS2, B0BN49, B5DE93, D2H526, E1BB50, E9Q5K9, E9Q784, O35986, O55035, O74418, P30414, P30415, Q13427, Q14AX6, Q19QU3, Q27450, Q3KPW4, Q3MJK5, Q3UC65, Q4R626, Q4V8I5, Q4V9W2, Q505I5, Q5BKY9, Q5R580, Q5R8J6, Q5RJP9, Q5T200, Q5U2S0, Q5VTL8, Q5XHJ5, Q5ZLM8, Q6AXY7, Q6P7Y3, Q7L4I2, Q80SY5, Q8N9E0, Q8N9Q2, Q8R0F5
Diamond homologs: E9Q784, Q5T200
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 6 | 30.4× | 2e-06 |
| mRNA 3’-end processing | 10 | 26.2× | 3e-10 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 10 | 20.3× | 3e-09 |
| Processing of Capped Intron-Containing Pre-mRNA | 17 | 18.6× | 7e-15 |
| mRNA Splicing | 12 | 17.6× | 3e-10 |
| RNA Polymerase II Transcription Termination | 6 | 17.6× | 4e-05 |
| mRNA Splicing - Minor Pathway | 5 | 14.9× | 7e-04 |
| mRNA Splicing - Major Pathway | 17 | 12.4× | 3e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 5 | 39.9× | 2e-05 |
| RNA splicing, via transesterification reactions | 5 | 32.5× | 4e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 9 | 22.9× | 3e-08 |
| mRNA export from nucleus | 5 | 15.4× | 1e-03 |
| mRNA splicing, via spliceosome | 14 | 13.4× | 6e-10 |
| mRNA processing | 15 | 12.3× | 6e-10 |
| RNA splicing | 10 | 9.2× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
220 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 193 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3094 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:45964043:C:CC | acceptor_gain | 1.0000 |
| 13:45965275:GTTAC:G | donor_loss | 1.0000 |
| 13:45965277:TACCT:T | donor_loss | 1.0000 |
| 13:45965278:A:AT | donor_loss | 1.0000 |
| 13:45965279:C:CT | donor_loss | 1.0000 |
| 13:45965428:TCCTG:T | acceptor_gain | 1.0000 |
| 13:45965429:CCTG:C | acceptor_loss | 1.0000 |
| 13:45965429:CCTGC:C | acceptor_gain | 1.0000 |
| 13:45965430:CTG:C | acceptor_gain | 1.0000 |
| 13:45965432:GC:G | acceptor_loss | 1.0000 |
| 13:45965433:C:CC | acceptor_gain | 1.0000 |
| 13:45965433:CTA:C | acceptor_loss | 1.0000 |
| 13:45965434:T:G | acceptor_loss | 1.0000 |
| 13:45965437:A:C | acceptor_gain | 1.0000 |
| 13:45967373:T:TA | donor_gain | 1.0000 |
| 13:45967499:CTCA:C | donor_loss | 1.0000 |
| 13:45967500:TCA:T | donor_loss | 1.0000 |
| 13:45967501:CACCT:C | donor_loss | 1.0000 |
| 13:45967502:A:AC | donor_gain | 1.0000 |
| 13:45967502:ACCTT:A | donor_gain | 1.0000 |
| 13:45967503:C:CA | donor_loss | 1.0000 |
| 13:45967503:C:CC | donor_gain | 1.0000 |
| 13:45967503:CCTT:C | donor_gain | 1.0000 |
| 13:45967503:CCTTC:C | donor_gain | 1.0000 |
| 13:45970356:GCTTA:G | donor_loss | 1.0000 |
| 13:45970357:CTTAC:C | donor_loss | 1.0000 |
| 13:45970358:TTA:T | donor_loss | 1.0000 |
| 13:45970359:TA:T | donor_loss | 1.0000 |
| 13:45970360:A:AC | donor_gain | 1.0000 |
| 13:45970360:AC:A | donor_loss | 1.0000 |
AlphaMissense
10952 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:45959531:G:C | C1596W | 1.000 |
| 13:45959533:A:G | C1596R | 1.000 |
| 13:45964016:A:G | W1500R | 1.000 |
| 13:45964016:A:T | W1500R | 1.000 |
| 13:45965345:A:G | L1469P | 1.000 |
| 13:45965360:A:T | I1464N | 1.000 |
| 13:45969343:C:A | W1067C | 1.000 |
| 13:45969343:C:G | W1067C | 1.000 |
| 13:45969345:A:G | W1067R | 1.000 |
| 13:45969345:A:T | W1067R | 1.000 |
| 13:46011464:A:G | L180P | 1.000 |
| 13:46011473:A:G | L177S | 1.000 |
| 13:46011482:T:G | Q174P | 1.000 |
| 13:46011485:A:C | I173R | 1.000 |
| 13:46011485:A:G | I173T | 1.000 |
| 13:46011485:A:T | I173K | 1.000 |
| 13:46011491:T:G | Q171P | 1.000 |
| 13:46011494:C:G | R170P | 1.000 |
| 13:46011495:G:T | R170S | 1.000 |
| 13:46011512:A:G | L164S | 1.000 |
| 13:46045011:A:C | C57W | 1.000 |
| 13:46045012:C:G | C57S | 1.000 |
| 13:46045012:C:T | C57Y | 1.000 |
| 13:46045013:A:G | C57R | 1.000 |
| 13:46045013:A:T | C57S | 1.000 |
| 13:46045029:G:C | C51W | 1.000 |
| 13:46045030:C:G | C51S | 1.000 |
| 13:46045030:C:T | C51Y | 1.000 |
| 13:46045031:A:G | C51R | 1.000 |
| 13:46045031:A:T | C51S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000690 (13:45961196 CAT>C), RS1000019695 (13:46007735 T>C), RS1000031261 (13:45957385 A>G), RS1000046731 (13:46054357 T>C), RS1000071825 (13:45991660 T>C,G), RS1000092028 (13:46004464 C>T), RS1000153169 (13:46048161 T>C), RS1000194252 (13:46038105 A>G), RS1000233024 (13:45988022 T>C,G), RS1000241711 (13:45954782 TGTA>T), RS1000244151 (13:45987714 C>A,T), RS1000263412 (13:45976881 A>G), RS1000279352 (13:46046208 T>C), RS1000286118 (13:46048337 G>A), RS1000290231 (13:46039734 T>C)
Disease associations
OMIM: gene MIM:616453 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003134_12 | Cerebrospinal fluid clusterin levels | 5.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| nickel sulfate | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| pentanal | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | affects response to substance | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Carmustine | affects response to substance | 1 |
| Cisplatin | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Sodium Dodecyl Sulfate | increases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thiram | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1QI | HyCyte HGC-27 KO-hZC3H13 | Cancer cell line | Sex unspecified |
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.