TAF5L
gene geneOn this page
Also known as PAF65B
Summary
TAF5L (TATA-box binding protein associated factor 5 like, HGNC:17304) is a protein-coding gene on chromosome 1q42.13, encoding TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L (O75529). Functions as a component of the PCAF complex. It is a selective cancer dependency (DepMap: 27.0% of cell lines).
The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Source: NCBI Gene 27097 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 81 total
- Cancer dependency (DepMap): dependent in 27.0% of screened cell lines
- MANE Select transcript:
NM_014409
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17304 |
| Approved symbol | TAF5L |
| Name | TATA-box binding protein associated factor 5 like |
| Location | 1q42.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PAF65B |
| Ensembl gene | ENSG00000135801 |
| Ensembl biotype | protein_coding |
| Entrez | 27097 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000258281, ENST00000366674, ENST00000366675, ENST00000477957, ENST00000912671
RefSeq mRNA: 2 — MANE Select: NM_014409
NM_001025247, NM_014409
CCDS: CCDS1581, CCDS31051
Canonical transcript exons
ENST00000258281 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000921356 | 229602195 | 229602919 |
| ENSE00003487022 | 229610106 | 229610210 |
| ENSE00003584340 | 229614341 | 229614485 |
| ENSE00003978331 | 229625885 | 229626122 |
| ENSE00003978332 | 229593134 | 229595094 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 89.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.8637 / max 77.9198, expressed in 1787 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17924 | 9.4592 | 1787 |
| 17923 | 0.4046 | 175 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 89.66 | gold quality |
| popliteal artery | UBERON:0002250 | 88.69 | gold quality |
| tibial artery | UBERON:0007610 | 88.67 | gold quality |
| secondary oocyte | CL:0000655 | 88.44 | gold quality |
| aorta | UBERON:0000947 | 88.04 | gold quality |
| right coronary artery | UBERON:0001625 | 87.89 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.40 | gold quality |
| ascending aorta | UBERON:0001496 | 87.28 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.20 | gold quality |
| monocyte | CL:0000576 | 86.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.46 | gold quality |
| left coronary artery | UBERON:0001626 | 86.45 | gold quality |
| mononuclear cell | CL:0000842 | 86.42 | gold quality |
| leukocyte | CL:0000738 | 86.30 | gold quality |
| oocyte | CL:0000023 | 85.67 | gold quality |
| muscle of leg | UBERON:0001383 | 85.65 | gold quality |
| coronary artery | UBERON:0001621 | 85.61 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.59 | gold quality |
| lower esophagus | UBERON:0013473 | 84.57 | gold quality |
| rectum | UBERON:0001052 | 84.41 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.35 | gold quality |
| granulocyte | CL:0000094 | 84.14 | gold quality |
| gall bladder | UBERON:0002110 | 84.14 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.74 | gold quality |
| cortical plate | UBERON:0005343 | 83.72 | gold quality |
| left uterine tube | UBERON:0001303 | 83.50 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.42 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.01 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
59 targeting TAF5L, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-449B-3P | 99.20 | 67.24 | 1047 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 27.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- p300 can acetylate DNA-bound Myc:Max complexes and that acetylated Myc:Max heterodimers efficiently interact with Miz-1 (PMID:16126174)
- The TAF5L gene on chromosome 1q42 is associated tie type 1 diabetes in Russian patients. (PMID:16206511)
- p300 or PCAF maintains myoblast viability as effectively as added growth factors through mechanisms requiring the acetyltransferase activity of PCAF but not of p300. (PMID:16672693)
- PCAF is a histone acetyltransferase which regulates gene transcription. PCAF interacts physically and functionally with PTEN. PTEN acetylation by PCAF block the ability of PTEN to downregulate PI3-K signalling and to induce G1 cell cycle arrest. (PMID:16829519)
- latent cytoplasmic coactivator TORC2 mediates target gene activation in response to cAMP signaling by associating with CBP/p300 and increasing its recruitment to a subset of CREB target genes (PMID:17476304)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | taf5l | ENSDARG00000025808 |
| mus_musculus | Taf5l | ENSMUSG00000038697 |
| rattus_norvegicus | Taf5l1 | ENSRNOG00000018027 |
| rattus_norvegicus | ENSRNOG00000068380 | |
| drosophila_melanogaster | wda | FBGN0039067 |
Paralogs (1): TAF5 (ENSG00000148835)
Protein
Protein identifiers
TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L — O75529 (reviewed: O75529)
Alternative names: PCAF-associated factor 65 beta
All UniProt accessions (2): O75529, Q5TDI7
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. With TAF6L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state.
Subunit / interactions. The PCAF complex is composed of a number of TBP-associated factors (TAFS), such as TAF5, TAF5L, TAF6, TAF6L, TAF9, TAF10 and TAF12, PCAF, and also PCAF-associated factors (PAFs), such as TADA2L/ADA2, TADA3L/ADA3 and SPT3. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9.
Subcellular location. Nucleus.
Miscellaneous. May be due to an intron retention.
Similarity. Belongs to the WD repeat TAF5 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75529-1 | 1 | yes |
| O75529-2 | 2 |
RefSeq proteins (2): NP_001020418, NP_055224* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR007582 | TFIID_NTD2 | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR037264 | TFIID_NTD2_sf | Homologous_superfamily |
Pfam: PF00400, PF04494
UniProt features (59 total): strand 31, helix 11, repeat 6, turn 6, splice variant 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9RDK | ELECTRON MICROSCOPY | 2.41 |
| 7KTR | ELECTRON MICROSCOPY | 2.93 |
| 8H7G | ELECTRON MICROSCOPY | 3.7 |
| 7KTS | ELECTRON MICROSCOPY | 19.09 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75529-F1 | 76.54 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
MSigDB gene sets: 198 (showing top):
RRAGTTGT_UNKNOWN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, HNF3ALPHA_Q6, NAGY_STAGA_COMPONENTS_HUMAN, MORF_MSH3, TGCACTT_MIR519C_MIR519B_MIR519A, MORF_BRCA1, MORF_ATRX, GOBP_REGULATION_OF_DNA_REPAIR, SRF_Q5_01, PUJANA_CHEK2_PCC_NETWORK, BROWNE_HCMV_INFECTION_24HR_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING
GO Biological Process (7): regulation of DNA repair (GO:0006282), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), regulation of somatic stem cell population maintenance (GO:1904672)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)
GO Cellular Component (5): SAGA complex (GO:0000124), nucleus (GO:0005634), nuclear speck (GO:0016607), transcription factor TFTC complex (GO:0033276), cytoplasmic ribonucleoprotein granule (GO:0036464)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Chromatin organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 3 |
| regulation of gene expression | 2 |
| regulation of DNA-templated transcription | 2 |
| SAGA-type complex | 2 |
| DNA repair | 1 |
| regulation of DNA metabolic process | 1 |
| regulation of cellular response to stress | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| RNA splicing | 1 |
| regulation of primary metabolic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| somatic stem cell population maintenance | 1 |
| regulation of stem cell population maintenance | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| DUBm complex | 1 |
| peptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
| RNA polymerase II, holoenzyme | 1 |
| RNA polymerase II transcription regulator complex | 1 |
| cytoplasm | 1 |
| ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
2807 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TAF5L | TAF6L | Q9Y6J9 | 958 |
| TAF5L | TAF10 | Q12962 | 875 |
| TAF5L | KAT2B | Q92831 | 841 |
| TAF5L | TAF9B | Q9HBM6 | 829 |
| TAF5L | TAF12 | Q16514 | 816 |
| TAF5L | TRRAP | Q9Y4A5 | 812 |
| TAF5L | TAF9 | Q16594 | 795 |
| TAF5L | TAF6 | P49848 | 794 |
| TAF5L | TADA3 | O75528 | 792 |
| TAF5L | SGF29 | Q96ES7 | 762 |
| TAF5L | SUPT7L | O94864 | 757 |
| TAF5L | SUPT20H | Q8NEM7 | 739 |
| TAF5L | SUPT3H | O75486 | 737 |
| TAF5L | KAT2A | Q92830 | 733 |
| TAF5L | TAF2 | Q6P1X5 | 718 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| TAF12 | TAF4 | psi-mi:“MI:0914”(association) | 0.760 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.740 |
| KAT2B | TADA2A | psi-mi:“MI:0914”(association) | 0.640 |
| TADA1 | TAF5L | psi-mi:“MI:0914”(association) | 0.640 |
| ATXN7L3 | USP27X | psi-mi:“MI:0914”(association) | 0.640 |
| MPPED1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| TADA1 | TADA3 | psi-mi:“MI:0914”(association) | 0.640 |
| TAF5L | TUBB8 | psi-mi:“MI:0915”(physical association) | 0.620 |
| FOXR2 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT20H | ATXN7 | psi-mi:“MI:0914”(association) | 0.530 |
| TAF6L | SUPT3H | psi-mi:“MI:0914”(association) | 0.530 |
| TADA2B | SUPT3H | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| SGF29 | MATN2 | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT20H | TAF5L | psi-mi:“MI:0914”(association) | 0.530 |
| TAF5L | FOXO3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| FOXO3 | TAF5L | psi-mi:“MI:0914”(association) | 0.500 |
| Kat2a | TAF5L | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEBPE | TAF5L | psi-mi:“MI:0915”(physical association) | 0.370 |
| ANXA7 | TAF5L | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (181): TAF5L (Reconstituted Complex), TAF5L (Protein-peptide), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), TADA2B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-MS), TAF5L (Affinity Capture-Western), TAF5L (Affinity Capture-MS)
ESM2 similar proteins: A2RRU3, A7MB12, A8XSW2, A8XYW9, G5ECZ4, G5EFW7, O13282, O14053, O43071, O75529, O94365, P25635, P38328, P40968, P42000, P49846, P87177, P91341, Q04199, Q04305, Q05946, Q05BV3, Q12220, Q15269, Q20059, Q3MKM6, Q5F3D7, Q5REE0, Q5RFQ3, Q5XGE2, Q6ED65, Q7ZW33, Q7ZXZ2, Q8BHB4, Q8BQM8, Q8BU03, Q8C7V3, Q8SQS4, Q8TED0, Q8VYZ5
Diamond homologs: O75529, Q7T2F6, Q91WQ5, A1CUD6, A1DP19, A2QP30, A4R3M4, B0XM00, B6GZD3, B6HP56, B6QC06, B6QC56, B8M0Q1, B8N9H4, C0S902, C1GB49, C4JPW9, C5PFX0, D5GBI7, O13282, P32479, P38129, Q00664, Q0CQ54, Q0D0X6, Q0U1B1, Q2GT28, Q2UBU2, Q2UGU1, Q4WLM7, Q4WTC4, Q5BDU4, Q6BYU4, Q6CXX3, Q6FVD3, Q74ZN0, Q7RY30, Q9C1X1, Q9C270, Q9FLX9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TAF5L | “form complex” | “SAGA complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 5 | 19.5× | 4e-04 |
| HATs acetylate histones | 15 | 17.5× | 2e-12 |
| Chromatin organization | 13 | 15.6× | 4e-10 |
| Chromatin modifying enzymes | 13 | 13.8× | 1e-09 |
| Deubiquitination | 7 | 12.8× | 1e-04 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 5 | 11.3× | 6e-03 |
| Ub-specific processing proteases | 9 | 7.0× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of DNA repair | 18 | 48.8× | 2e-23 |
| regulation of RNA splicing | 18 | 38.6× | 1e-21 |
| regulation of cell division | 5 | 37.5× | 3e-05 |
| regulation of embryonic development | 5 | 16.2× | 1e-03 |
| RNA polymerase II preinitiation complex assembly | 5 | 13.3× | 3e-03 |
| chromatin remodeling | 9 | 6.4× | 1e-03 |
| transcription by RNA polymerase II | 9 | 6.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
81 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1015 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:229595102:CAG:C | acceptor_gain | 1.0000 |
| 1:229595103:A:T | acceptor_gain | 1.0000 |
| 1:229595104:G:C | acceptor_gain | 1.0000 |
| 1:229595104:G:GC | acceptor_gain | 1.0000 |
| 1:229595109:G:C | acceptor_gain | 1.0000 |
| 1:229595109:G:GC | acceptor_gain | 1.0000 |
| 1:229595114:G:C | acceptor_gain | 1.0000 |
| 1:229595114:G:GC | acceptor_gain | 1.0000 |
| 1:229597294:T:TA | donor_gain | 1.0000 |
| 1:229602196:T:TA | donor_gain | 1.0000 |
| 1:229602920:C:CC | acceptor_gain | 1.0000 |
| 1:229610100:ACTT:A | donor_loss | 1.0000 |
| 1:229610101:CTT:C | donor_loss | 1.0000 |
| 1:229610102:TTAC:T | donor_loss | 1.0000 |
| 1:229610103:TA:T | donor_loss | 1.0000 |
| 1:229610104:A:AC | donor_gain | 1.0000 |
| 1:229610104:AC:A | donor_gain | 1.0000 |
| 1:229610105:C:CA | donor_gain | 1.0000 |
| 1:229610105:C:G | donor_loss | 1.0000 |
| 1:229610105:CC:C | donor_gain | 1.0000 |
| 1:229610105:CCA:C | donor_gain | 1.0000 |
| 1:229610105:CCAG:C | donor_gain | 1.0000 |
| 1:229610105:CCAGT:C | donor_gain | 1.0000 |
| 1:229610206:TTGCA:T | acceptor_gain | 1.0000 |
| 1:229610207:TGCA:T | acceptor_gain | 1.0000 |
| 1:229610208:GCA:G | acceptor_gain | 1.0000 |
| 1:229610209:CA:C | acceptor_gain | 1.0000 |
| 1:229610209:CAC:C | acceptor_gain | 1.0000 |
| 1:229610211:C:CC | acceptor_gain | 1.0000 |
| 1:229595090:TCATC:T | acceptor_gain | 0.9900 |
AlphaMissense
3879 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:229594458:A:G | W537R | 0.999 |
| 1:229594458:A:T | W537R | 0.999 |
| 1:229594584:A:G | W495R | 0.999 |
| 1:229594584:A:T | W495R | 0.999 |
| 1:229594718:A:T | V450D | 0.999 |
| 1:229594742:G:T | A442D | 0.999 |
| 1:229594864:G:C | S401R | 0.999 |
| 1:229594864:G:T | S401R | 0.999 |
| 1:229594866:T:G | S401R | 0.999 |
| 1:229594490:G:T | A526D | 0.998 |
| 1:229594582:C:A | W495C | 0.998 |
| 1:229594582:C:G | W495C | 0.998 |
| 1:229594710:A:G | W453R | 0.998 |
| 1:229594710:A:T | W453R | 0.998 |
| 1:229594728:C:G | D447H | 0.998 |
| 1:229594456:C:A | W537C | 0.997 |
| 1:229594456:C:G | W537C | 0.997 |
| 1:229594487:G:T | S527Y | 0.997 |
| 1:229594583:C:G | W495S | 0.997 |
| 1:229594613:G:T | S485Y | 0.997 |
| 1:229594715:C:G | R451P | 0.997 |
| 1:229594727:T:A | D447V | 0.997 |
| 1:229594736:C:T | G444D | 0.997 |
| 1:229594739:G:T | T443K | 0.997 |
| 1:229594463:C:G | R535P | 0.996 |
| 1:229594487:G:A | S527F | 0.996 |
| 1:229594488:A:G | S527P | 0.996 |
| 1:229594613:G:A | S485F | 0.996 |
| 1:229594614:A:G | S485P | 0.996 |
| 1:229594712:A:G | L452P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000024481 (1:229620845 T>A,C), RS1000166517 (1:229603452 G>C,T), RS1000313113 (1:229615319 C>T), RS1000349076 (1:229620635 T>C), RS1000455566 (1:229609147 C>T), RS1000542859 (1:229621185 A>G), RS1000547496 (1:229608041 G>T), RS1000651653 (1:229616654 T>G), RS1000663504 (1:229608289 G>A), RS1000833222 (1:229595540 C>T), RS1000898431 (1:229616374 AT>A,ATT), RS1000917534 (1:229597828 T>C), RS1001231963 (1:229610596 C>A), RS1001292504 (1:229601959 T>C), RS1001319924 (1:229614027 GTTAA>G)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST001980_3 | Circulating myeloperoxidase levels (plasma) | 1.000000e-06 |
| GCST90002403_67 | Red blood cell count | 2.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005243 | myeloperoxidase measurement |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | 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 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Irinotecan | affects cotreatment, decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression, increases reaction | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Fluorouracil | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ketoconazole | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Selenium | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triiodothyronine | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TR49 | HAP1 TAF5L (-) 1 | Cancer cell line | Male |
| CVCL_TR50 | HAP1 TAF5L (-) 2 | Cancer cell line | Male |
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.