TIPIN
gene geneOn this page
Also known as FLJ20516
Summary
TIPIN (TIMELESS interacting protein, HGNC:30750) is a protein-coding gene on chromosome 15q22.31, encoding TIMELESS-interacting protein (Q9BVW5). Plays an important role in the control of DNA replication and the maintenance of replication fork stability. It is a common-essential gene (DepMap: required in 91.7% of cancer cell lines).
The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 54962 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 43 total
- Cancer dependency (DepMap): dependent in 91.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_017858
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30750 |
| Approved symbol | TIPIN |
| Name | TIMELESS interacting protein |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20516 |
| Ensembl gene | ENSG00000075131 |
| Ensembl biotype | protein_coding |
| OMIM | 610716 |
| Entrez | 54962 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 18 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000261881, ENST00000561773, ENST00000562124, ENST00000566524, ENST00000568216, ENST00000570251, ENST00000851323, ENST00000851324, ENST00000912702, ENST00000912703, ENST00000912704, ENST00000912705, ENST00000912706, ENST00000912707, ENST00000912708, ENST00000912709, ENST00000912710, ENST00000912711, ENST00000955702, ENST00000955703
RefSeq mRNA: 9 — MANE Select: NM_017858
NM_001289986, NM_001398281, NM_001398282, NM_001398283, NM_001398284, NM_001398285, NM_001398286, NM_001398287, NM_017858
CCDS: CCDS10215
Canonical transcript exons
ENST00000261881 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000942662 | 66351525 | 66351600 |
| ENSE00002219102 | 66356639 | 66356685 |
| ENSE00002580100 | 66336191 | 66337181 |
| ENSE00003592159 | 66352815 | 66352955 |
| ENSE00003596351 | 66341150 | 66341356 |
| ENSE00003598726 | 66352129 | 66352207 |
| ENSE00003604788 | 66349315 | 66349437 |
| ENSE00003622952 | 66349060 | 66349123 |
Expression profiles
Bgee: expression breadth ubiquitous, 235 present calls, max score 91.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.8387 / max 443.1959, expressed in 1719 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150589 | 9.5975 | 1619 |
| 150590 | 2.2411 | 1086 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.84 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.68 | gold quality |
| secondary oocyte | CL:0000655 | 85.23 | gold quality |
| right testis | UBERON:0004534 | 85.04 | gold quality |
| left testis | UBERON:0004533 | 84.94 | gold quality |
| testis | UBERON:0000473 | 84.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.78 | gold quality |
| ventricular zone | UBERON:0003053 | 83.77 | gold quality |
| islet of Langerhans | UBERON:0000006 | 83.45 | gold quality |
| sperm | CL:0000019 | 83.25 | gold quality |
| male germ cell | CL:0000015 | 82.19 | gold quality |
| oocyte | CL:0000023 | 81.64 | gold quality |
| cortical plate | UBERON:0005343 | 80.85 | gold quality |
| embryo | UBERON:0000922 | 79.63 | gold quality |
| bone marrow | UBERON:0002371 | 78.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.00 | gold quality |
| rectum | UBERON:0001052 | 77.79 | gold quality |
| muscle of leg | UBERON:0001383 | 77.70 | gold quality |
| gastrocnemius | UBERON:0001388 | 77.70 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.49 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.32 | gold quality |
| left ovary | UBERON:0002119 | 77.05 | gold quality |
| adrenal tissue | UBERON:0018303 | 77.04 | gold quality |
| left adrenal gland | UBERON:0001234 | 76.81 | gold quality |
| pancreas | UBERON:0001264 | 76.61 | gold quality |
| ovary | UBERON:0000992 | 76.60 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 76.57 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 76.49 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 76.37 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6911 | no | 105.73 |
| E-ANND-3 | no | 3.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting TIPIN, 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-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-4521 | 97.73 | 67.64 | 684 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 91.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 12)
- Tipin is a checkpoint mediator that cooperates with Tim and may regulate the nuclear relocation of Claspin in response to replication checkpoint (PMID:17102137)
- observation explains the similar checkpoint phenotypes observed in both Tipin- and Timeless-depleted cells (PMID:17116885)
- TIM and Tipin are functional orthologs of their replisome-associated yeast counterparts capable of coordinating replication with genotoxic stress responses, and distinguishes mammalian TIM from the circadian-specific paralogs. (PMID:17141802)
- These findings indicate that the Tim-Tipin complex mediates the UV-induced intra-S checkpoint, Tim is needed to maintain DNA replication fork movement, Tipin interacts with RPA on DNA. (PMID:17296725)
- The results suggest that Timeless-Tipin functions as a replication fork stabilizer that couples DNA replication with sister chromatid cohesion established at replication forks. (PMID:20124417)
- RPA-covered ssDNA not only supports recruitment and activation of ATR but also, through Tipin and Claspin, it plays an important role in the action of ATR on its critical downstream target Chk1 (PMID:20233725)
- We now show that cellular DNA replication fork pausing and protection factors Timeless (Tim) and Tipin (Timeless-interacting protein) accumulate at OriP during S phase of the cell cycle. (PMID:21490103)
- Tim-Tipin complex might play a role in coupling DNA unwinding and DNA synthesis by directly affecting the catalytic activities of replication fork proteins. (PMID:23359676)
- Tim-Tipin complex (or Tim alone) is able to associate with DNA polymerase epsilon bound to a 40-/80-mer DNA ligand. (PMID:23511638)
- TIPIN is important for the maintenance of DNA replication and represents a potential treatment target for the worst prognosis associated breast cancers, such as Triple-negative breast cancer. (PMID:26004086)
- the 1.85 A crystal structure of a large N-terminal segment of human Timeless, spanning amino acids 1-463, is presented and this region of human Timeless harbours a partial binding site for Tipin. (PMID:28334766)
- Germline polymorphisms in genes maintaining the replication fork predict the efficacy of oxaliplatin and irinotecan in patients with metastatic colorectal cancer. (PMID:34689170)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tipin | ENSDARG00000036136 |
| mus_musculus | Tipin | ENSMUSG00000032397 |
| rattus_norvegicus | Tipin | ENSRNOG00000043068 |
| rattus_norvegicus | ENSRNOG00000073563 | |
| rattus_norvegicus | ENSRNOG00000084297 | |
| drosophila_melanogaster | CG10336 | FBGN0032698 |
| caenorhabditis_elegans | tipn-1 | WBGENE00017738 |
Protein
Protein identifiers
TIMELESS-interacting protein — Q9BVW5 (reviewed: Q9BVW5)
All UniProt accessions (5): Q9BVW5, H3BQ83, H3BTH1, H3BU04, H3BVG9
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress.
Subunit / interactions. Interacts with TIMELESS (via N-terminus), which impairs TIMELESS self-association. Associates with the MCM2-7 complex. Interacts with RPA2, PRDX2.
Subcellular location. Cytoplasm. Nucleus.
Similarity. Belongs to the CSM3 family.
RefSeq proteins (9): NP_001276915, NP_001385210, NP_001385211, NP_001385212, NP_001385213, NP_001385214, NP_001385215, NP_001385216, NP_060328* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012923 | Csm3 | Domain |
| IPR040038 | TIPIN/Csm3/Swi3 | Family |
Pfam: PF07962
UniProt features (15 total): sequence variant 6, modified residue 4, region of interest 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7PLO | ELECTRON MICROSCOPY | 2.8 |
| 7PFO | ELECTRON MICROSCOPY | 3.2 |
| 8B9D | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVW5-F1 | 67.67 | 0.20 |
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 (4): 194, 222, 233, 244
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5693607 | Processing of DNA double-strand break ends |
MSigDB gene sets: 262 (showing top):
GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, E2F_Q4_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_CELL_CYCLE_DNA_REPLICATION, FISCHER_G1_S_CELL_CYCLE, MODULE_151, GOBP_CELL_CYCLE_PHASE_TRANSITION, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_NEGATIVE_REGULATION_OF_DNA_TEMPLATED_DNA_REPLICATION, GOBP_MITOTIC_INTRA_S_DNA_DAMAGE_CHECKPOINT_SIGNALING, GOBP_REGULATION_OF_NUCLEAR_CELL_CYCLE_DNA_REPLICATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOCC_NUCLEAR_REPLICATION_FORK, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP
GO Biological Process (11): DNA replication checkpoint signaling (GO:0000076), positive regulation of cell population proliferation (GO:0008284), response to UV (GO:0009411), replication fork processing (GO:0031297), mitotic intra-S DNA damage checkpoint signaling (GO:0031573), regulation of nuclear cell cycle DNA replication (GO:0033262), replication fork arrest (GO:0043111), cell cycle phase transition (GO:0044770), cell division (GO:0051301), DNA damage checkpoint signaling (GO:0000077), DNA damage response (GO:0006974)
GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), replication fork protection complex (GO:0031298)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| DNA integrity checkpoint signaling | 2 |
| DNA-templated DNA replication maintenance of fidelity | 2 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| response to light stimulus | 1 |
| mitotic S phase | 1 |
| mitotic DNA damage checkpoint signaling | 1 |
| regulation of cell cycle process | 1 |
| nuclear DNA replication | 1 |
| regulation of DNA-templated DNA replication | 1 |
| negative regulation of DNA-templated DNA replication | 1 |
| cell cycle process | 1 |
| cellular process | 1 |
| signal transduction in response to DNA damage | 1 |
| cellular response to stress | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nuclear replication fork | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
2002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TIPIN | TIMELESS | Q9UNS1 | 999 |
| TIPIN | CLSPN | Q9HAW4 | 997 |
| TIPIN | WDHD1 | O75717 | 993 |
| TIPIN | MRC1 | P22897 | 911 |
| TIPIN | MCM7 | P33993 | 870 |
| TIPIN | CHEK1 | O14757 | 838 |
| TIPIN | FBXL15 | Q9H469 | 810 |
| TIPIN | MCM10 | Q7L590 | 771 |
| TIPIN | ITFG1 | Q8TB96 | 769 |
| TIPIN | RAD52 | P43351 | 738 |
| TIPIN | CDC45 | O75419 | 735 |
| TIPIN | CDC7 | O00311 | 727 |
| TIPIN | TOPBP1 | Q92547 | 717 |
| TIPIN | DDX11 | Q96FC9 | 666 |
| TIPIN | SMARCAL1 | Q9NZC9 | 666 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPA2 | RPA1 | psi-mi:“MI:0914”(association) | 0.960 |
| RPA1 | RPA2 | psi-mi:“MI:0914”(association) | 0.960 |
| RPA3 | RPA2 | psi-mi:“MI:0914”(association) | 0.930 |
| MCM2 | MCM4 | psi-mi:“MI:0914”(association) | 0.830 |
| TIPIN | TIMELESS | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| TIPIN | TIMELESS | psi-mi:“MI:0915”(physical association) | 0.730 |
| RPA2 | TIPIN | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| TIPIN | RPA2 | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| TIPIN | TEX11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSC2 | TIPIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TIPIN | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TIPIN | MCM7 | psi-mi:“MI:0914”(association) | 0.530 |
| GINS3 | MCM7 | psi-mi:“MI:0914”(association) | 0.530 |
| H2BC26 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRIMPOL | RPA2 | psi-mi:“MI:0914”(association) | 0.510 |
| Tipin | RPA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Timeless | RPA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TIPIN | E2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Timeless | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| Clspn | MCM3 | psi-mi:“MI:0914”(association) | 0.350 |
| TIPIN | MCM3 | psi-mi:“MI:0914”(association) | 0.350 |
| TCEAL1 | PDCD5 | psi-mi:“MI:0914”(association) | 0.350 |
| SSRP1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| CYP2J2 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (97): TEX11 (Two-hybrid), TIPIN (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), TIMELESS (Affinity Capture-MS), MCM7 (Affinity Capture-MS), MCM2 (Affinity Capture-MS), GINS1 (Affinity Capture-MS), MCM3 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), TIPIN (Affinity Capture-MS), TIPIN (Affinity Capture-MS), TIMELESS (Affinity Capture-MS), TIPIN (Affinity Capture-MS), GINS4 (Affinity Capture-MS), GINS1 (Affinity Capture-MS)
ESM2 similar proteins: A0ZWU1, A1C8Y9, A1D9E6, A3LW29, A4DA84, A4RCW0, A5DDH8, A5DWY0, B8B2G4, G0SAV1, O14350, O43088, P0CY38, P28706, P33288, P36592, Q02398, Q04659, Q09808, Q0CU66, Q0IHI4, Q0UJ25, Q1DME8, Q2H3R6, Q2UQ97, Q3ZCC4, Q4IB96, Q4QR88, Q4WP03, Q4WXD3, Q4WZJ6, Q59X26, Q5B4Q8, Q5B8U0, Q5BDI1, Q5BER4, Q5F416, Q67VW6, Q6C656, Q6CIH2
Diamond homologs: A1C8Y9, A1D9E6, A3LW29, A4DA84, A4RCW0, A5DWY0, O14350, Q0CU66, Q0IHI4, Q0UJ25, Q1DME8, Q2H3R6, Q3ZCC4, Q4QR88, Q59X26, Q5F416, Q6C656, Q6DBR4, Q75DC6, Q7SHE8, Q91WA1, Q9BVW5, Q6CIH2, Q6FU57, Q8INX3, Q04659, A5DDH8, Q9TXI0, Q61XH2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| Activation of the pre-replicative complex | 8 | 137.4× | 4e-14 |
| Activation of ATR in response to replication stress | 8 | 126.5× | 4e-14 |
| DNA Replication Pre-Initiation | 5 | 83.5× | 9e-08 |
| Synthesis of DNA | 5 | 79.1× | 1e-07 |
| DNA Replication | 5 | 62.6× | 3e-07 |
| G1/S Transition | 5 | 61.3× | 3e-07 |
| Mitotic G1 phase and G1/S transition | 5 | 48.5× | 8e-07 |
| S Phase | 5 | 47.7× | 8e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| DNA replication | 10 | 71.8× | 6e-15 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1072 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:66337177:CATAT:C | acceptor_gain | 1.0000 |
| 15:66337179:TAT:T | acceptor_gain | 1.0000 |
| 15:66337179:TATC:T | acceptor_loss | 1.0000 |
| 15:66337182:C:CC | acceptor_gain | 1.0000 |
| 15:66337798:G:C | donor_gain | 1.0000 |
| 15:66341176:AG:A | donor_gain | 1.0000 |
| 15:66341176:AGCAG:A | donor_gain | 1.0000 |
| 15:66341177:G:C | donor_gain | 1.0000 |
| 15:66341353:TCATC:T | acceptor_loss | 1.0000 |
| 15:66341354:CAT:C | acceptor_gain | 1.0000 |
| 15:66341355:ATC:A | acceptor_loss | 1.0000 |
| 15:66341356:TCT:T | acceptor_loss | 1.0000 |
| 15:66341357:C:CC | acceptor_gain | 1.0000 |
| 15:66341357:CTG:C | acceptor_loss | 1.0000 |
| 15:66341358:T:G | acceptor_loss | 1.0000 |
| 15:66349119:CAGGT:C | acceptor_gain | 1.0000 |
| 15:66349122:GTC:G | acceptor_loss | 1.0000 |
| 15:66349123:TCTG:T | acceptor_loss | 1.0000 |
| 15:66349124:C:CC | acceptor_gain | 1.0000 |
| 15:66349124:C:T | acceptor_loss | 1.0000 |
| 15:66349125:T:A | acceptor_loss | 1.0000 |
| 15:66349436:GCCTG:G | acceptor_loss | 1.0000 |
| 15:66349437:CCT:C | acceptor_loss | 1.0000 |
| 15:66349438:CT:C | acceptor_loss | 1.0000 |
| 15:66349439:T:A | acceptor_loss | 1.0000 |
| 15:66352124:TGTA:T | donor_loss | 1.0000 |
| 15:66352125:GTAC:G | donor_loss | 1.0000 |
| 15:66352126:TACCT:T | donor_loss | 1.0000 |
| 15:66352127:A:T | donor_loss | 1.0000 |
| 15:66352128:C:CG | donor_loss | 1.0000 |
AlphaMissense
2003 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:66349398:A:G | W110R | 0.999 |
| 15:66349398:A:T | W110R | 0.999 |
| 15:66351598:A:G | L72S | 0.998 |
| 15:66349385:A:G | L114P | 0.997 |
| 15:66349396:C:A | W110C | 0.997 |
| 15:66349396:C:G | W110C | 0.997 |
| 15:66349395:C:G | A111P | 0.996 |
| 15:66349346:A:T | V127D | 0.995 |
| 15:66351583:C:T | G77E | 0.995 |
| 15:66351584:C:G | G77R | 0.995 |
| 15:66351584:C:T | G77R | 0.995 |
| 15:66349104:C:G | R144P | 0.994 |
| 15:66349319:A:T | V136D | 0.994 |
| 15:66349337:A:G | L130P | 0.994 |
| 15:66351580:A:G | L78P | 0.993 |
| 15:66351580:A:T | L78H | 0.993 |
| 15:66349110:C:G | R142P | 0.992 |
| 15:66349116:A:G | L140S | 0.992 |
| 15:66349334:C:T | G131E | 0.992 |
| 15:66349397:C:G | W110S | 0.992 |
| 15:66351580:A:C | L78R | 0.992 |
| 15:66349381:G:C | F115L | 0.991 |
| 15:66349381:G:T | F115L | 0.991 |
| 15:66349383:A:G | F115L | 0.991 |
| 15:66349394:G:T | A111E | 0.991 |
| 15:66349418:A:G | L103P | 0.991 |
| 15:66352141:A:T | L67Q | 0.991 |
| 15:66349373:A:G | L118P | 0.990 |
| 15:66349101:A:G | L145P | 0.989 |
| 15:66349366:A:C | F120L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000010261 (15:66372530 T>C), RS1000071958 (15:66367069 A>G), RS1000098681 (15:66373334 A>T), RS1000133430 (15:66365754 T>A), RS1000176580 (15:66353300 C>A), RS1000185322 (15:66347561 T>C), RS1000229464 (15:66336815 T>C), RS1000330112 (15:66377877 C>T), RS1000342997 (15:66378360 C>T), RS1000386681 (15:66383010 G>T), RS1000391755 (15:66340542 A>G), RS1000400967 (15:66384224 C>T), RS1000498095 (15:66367649 T>C), RS1000582325 (15:66355178 C>A,G), RS1000667993 (15:66361416 C>G,T)
Disease associations
OMIM: gene MIM:610716 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004635_28 | Testicular germ cell tumor | 8.000000e-13 |
| GCST004713_8 | Testicular germ cell tumor | 1.000000e-10 |
| GCST010988_203 | Adult body size | 5.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 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 | affects cotreatment, increases expression, affects expression | 4 |
| Cisplatin | decreases reaction, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one | decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases 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 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): testicular germ cell tumor