FAAP100
gene geneOn this page
Also known as FLJ22175
Summary
FAAP100 (FA core complex associated protein 100, HGNC:26171) is a protein-coding gene on chromosome 17q25.3, encoding Fanconi anemia core complex-associated protein 100 (Q0VG06). Plays a role in Fanconi anemia-associated DNA damage response network. It is a selective cancer dependency (DepMap: 14.3% of cell lines).
FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).
Source: NCBI Gene 80233 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 177 total — 3 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 159
- Cancer dependency (DepMap): dependent in 14.3% of screened cell lines
- MANE Select transcript:
NM_025161
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26171 |
| Approved symbol | FAAP100 |
| Name | FA core complex associated protein 100 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22175 |
| Ensembl gene | ENSG00000185504 |
| Ensembl biotype | protein_coding |
| OMIM | 611301 |
| Entrez | 80233 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 nonsense_mediated_decay
ENST00000327787, ENST00000425898, ENST00000443656, ENST00000536161, ENST00000541246, ENST00000544302, ENST00000545865, ENST00000899631, ENST00000899632, ENST00000959821, ENST00000959822
RefSeq mRNA: 1 — MANE Select: NM_025161
NM_025161
CCDS: CCDS32765
Canonical transcript exons
ENST00000327787 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002302091 | 81552166 | 81552353 |
| ENSE00003483734 | 81550248 | 81551203 |
| ENSE00003492534 | 81539891 | 81540950 |
| ENSE00003518046 | 81549206 | 81549362 |
| ENSE00003522275 | 81546909 | 81547678 |
| ENSE00003555053 | 81545746 | 81545882 |
| ENSE00003598336 | 81541309 | 81541395 |
| ENSE00003656053 | 81544004 | 81544120 |
| ENSE00003667995 | 81551928 | 81552052 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 92.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9533 / max 166.7885, expressed in 1798 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168758 | 12.7797 | 1781 |
| 168759 | 4.3447 | 1680 |
| 168760 | 1.7572 | 782 |
| 168757 | 0.0717 | 25 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 92.82 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.42 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.29 | gold quality |
| apex of heart | UBERON:0002098 | 90.63 | gold quality |
| granulocyte | CL:0000094 | 90.32 | gold quality |
| cerebellum | UBERON:0002037 | 90.12 | gold quality |
| spleen | UBERON:0002106 | 88.99 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.81 | gold quality |
| body of pancreas | UBERON:0001150 | 88.60 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.33 | gold quality |
| cortical plate | UBERON:0005343 | 88.29 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 87.88 | gold quality |
| left uterine tube | UBERON:0001303 | 87.82 | gold quality |
| right uterine tube | UBERON:0001302 | 87.65 | gold quality |
| right ovary | UBERON:0002118 | 86.80 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.68 | gold quality |
| thyroid gland | UBERON:0002046 | 86.59 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.58 | gold quality |
| body of uterus | UBERON:0009853 | 86.40 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.21 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.12 | gold quality |
| left ovary | UBERON:0002119 | 85.88 | gold quality |
| body of stomach | UBERON:0001161 | 85.80 | gold quality |
| endocervix | UBERON:0000458 | 85.78 | gold quality |
| right coronary artery | UBERON:0001625 | 85.73 | gold quality |
| ascending aorta | UBERON:0001496 | 85.71 | gold quality |
| thoracic aorta | UBERON:0001515 | 85.71 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.66 | gold quality |
| ectocervix | UBERON:0012249 | 85.65 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting FAAP100, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4733-3P | 98.35 | 65.20 | 994 |
| HSA-MIR-634 | 97.74 | 67.11 | 818 |
| HSA-MIR-1226-3P | 97.51 | 66.32 | 1063 |
| HSA-MIR-663B | 97.40 | 62.91 | 664 |
| HSA-MIR-6772-3P | 97.04 | 65.89 | 784 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
| HSA-MIR-7976 | 95.75 | 65.67 | 1186 |
| HSA-MIR-6851-3P | 95.73 | 65.11 | 688 |
| HSA-MIR-1204 | 89.50 | 65.56 | 109 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- FAAP100 as a new critical component of the FA-BRCA DNA damage response network. (PMID:17396147)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | faap100 | ENSDARG00000079457 |
| mus_musculus | Faap100 | ENSMUSG00000025384 |
| rattus_norvegicus | Faap100 | ENSRNOG00000036699 |
Protein
Protein identifiers
Fanconi anemia core complex-associated protein 100 — Q0VG06 (reviewed: Q0VG06)
Alternative names: Fanconi anemia-associated protein of 100 kDa
All UniProt accessions (7): Q0VG06, E7EVV8, F5GZS4, F5H095, F5H5G6, I3L2L9, J3KQD8
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.
Subunit / interactions. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL.
Subcellular location. Nucleus.
Disease relevance. Fanconi anemia, complementation group X (FANCX) [MIM:621258] A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. FANCX is an autosomal recessive form characterized by multiple pregnancy losses and offspring presenting with severe developmental and hematologic abnormalities leading to death in utero or in early life. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q0VG06-1 | 1, b | yes |
| Q0VG06-2 | 2 | |
| Q0VG06-3 | 3, a |
RefSeq proteins (1): NP_079437* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029251 | Faap100 | Family |
Pfam: PF15146
UniProt features (11 total): sequence variant 4, splice variant 3, chain 1, region of interest 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7KZP | ELECTRON MICROSCOPY | 3.1 |
| 7KZS | ELECTRON MICROSCOPY | 4.2 |
| 7KZT | ELECTRON MICROSCOPY | 4.2 |
| 7KZV | ELECTRON MICROSCOPY | 4.2 |
| 7KZQ | ELECTRON MICROSCOPY | 4.3 |
| 7KZR | ELECTRON MICROSCOPY | 4.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q0VG06-F1 | 74.47 | 0.15 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 667
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6783310 | Fanconi Anemia Pathway |
| R-HSA-9833482 | PKR-mediated signaling |
MSigDB gene sets: 299 (showing top):
PID_FANCONI_PATHWAY, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, CAGCTG_AP4_Q5, AML_Q6, GOBP_DNA_DAMAGE_RESPONSE, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, REACTOME_FANCONI_ANEMIA_PATHWAY, REACTOME_DNA_REPAIR, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, NERF_Q2, WANG_PROSTATE_CANCER_ANDROGEN_INDEPENDENT, GOCC_FANCONI_ANAEMIA_NUCLEAR_COMPLEX, GOBP_DNA_METABOLIC_PROCESS
GO Biological Process (3): interstrand cross-link repair (GO:0036297), DNA repair (GO:0006281), 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), cytosol (GO:0005829), Fanconi anaemia nuclear complex (GO:0043240)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| DNA Repair | 1 |
| Antimicrobial mechanism of IFN-stimulated genes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| DNA repair | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1192 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAAP100 | FANCB | Q8NB91 | 999 |
| FAAP100 | FANCL | Q9NW38 | 999 |
| FAAP100 | FANCA | O15360 | 998 |
| FAAP100 | FAAP24 | Q9BTP7 | 998 |
| FAAP100 | FANCF | Q9NPI8 | 997 |
| FAAP100 | FANCG | O15287 | 997 |
| FAAP100 | FANCE | Q9HB96 | 996 |
| FAAP100 | FANCM | Q8IYD8 | 995 |
| FAAP100 | FANCC | Q00597 | 995 |
| FAAP100 | F6S8H2 | F6S8H2 | 992 |
| FAAP100 | CENPS | Q8N2Z9 | 956 |
| FAAP100 | CENPX | A8MT69 | 950 |
| FAAP100 | FANCD2 | Q9BXW9 | 907 |
| FAAP100 | UBE2T | Q9NPD8 | 875 |
| FAAP100 | FANCI | Q9NVI1 | 820 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FANCG | FANCA | psi-mi:“MI:0914”(association) | 0.960 |
| FANCA | FANCG | psi-mi:“MI:0914”(association) | 0.960 |
| FANCA | FANCG | psi-mi:“MI:0403”(colocalization) | 0.960 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| KRT31 | HGS | psi-mi:“MI:0914”(association) | 0.780 |
| KRT34 | TXLNA | psi-mi:“MI:0914”(association) | 0.670 |
| FANCA | FAAP100 | psi-mi:“MI:0914”(association) | 0.660 |
| FANCA | FAAP100 | psi-mi:“MI:0915”(physical association) | 0.660 |
| FAAP100 | FANCB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK18 | UBL4A | psi-mi:“MI:0914”(association) | 0.530 |
| GPHA2 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| DEUP1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSKS | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| GGA1 | CLCN3 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2T | FAAP100 | psi-mi:“MI:0914”(association) | 0.530 |
| GRK7 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
| RASSF8 | CORO1A | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | YWHAE | psi-mi:“MI:0914”(association) | 0.530 |
| NHSL3 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| SKA2 | VSIG8 | psi-mi:“MI:0914”(association) | 0.530 |
| CYCS | FAAP100 | psi-mi:“MI:0914”(association) | 0.530 |
| LAGE3 | CTSA | psi-mi:“MI:0914”(association) | 0.530 |
| LURAP1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.530 |
| SGF29 | MATN2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (160): C17orf70 (Affinity Capture-MS), C17orf70 (Affinity Capture-Western), C17orf70 (Affinity Capture-Western), C17orf70 (Affinity Capture-MS), C17orf70 (Two-hybrid), C17orf70 (Affinity Capture-Western), FANCM (Affinity Capture-MS), BLM (Affinity Capture-MS), FANCA (Affinity Capture-MS), TOP3A (Affinity Capture-MS), FANCB (Affinity Capture-MS), RMI1 (Affinity Capture-MS), FANCC (Affinity Capture-MS), FANCG (Affinity Capture-MS), FANCE (Affinity Capture-MS)
ESM2 similar proteins: A0JN53, A2ACJ2, D2I4M3, D4ACE5, E9Q2M9, G3HQ82, O15360, O75161, P59240, Q0VG06, Q1T7C0, Q24JP3, Q3KNJ2, Q3U5Q7, Q3U6Q4, Q3UK37, Q3ZAU7, Q400C9, Q400G9, Q571B6, Q5F479, Q5SW28, Q5UE93, Q6AYI4, Q6PJG6, Q6ZS81, Q7Z412, Q8BGI5, Q8BVF9, Q8C0R7, Q8C3R1, Q8C3S2, Q8CC12, Q8CEC0, Q8IWY9, Q8IXR5, Q8TC57, Q8TE82, Q8TF30, Q8WXE1
Diamond homologs: A2ACJ2, Q0VG06
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FAAP100 | “form complex” | “Fanconi anemia core complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 160 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 |
|---|---|---|---|
| Fanconi Anemia Pathway | 5 | 14.1× | 7e-03 |
| Formation of the cornified envelope | 9 | 8.0× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| morphogenesis of an epithelium | 7 | 17.3× | 6e-05 |
| intermediate filament organization | 9 | 15.6× | 5e-06 |
| epithelial cell differentiation | 8 | 10.1× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 146 |
| Likely benign | 13 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3910000 | NM_025161.6(FAAP100):c.1151_1161del (p.Glu384fs) | Pathogenic |
| 3910001 | NM_025161.6(FAAP100):c.2590C>T (p.Gln864Ter) | Pathogenic |
| 3910002 | NM_025161.6(FAAP100):c.1624A>C (p.Thr542Pro) | Pathogenic |
| 4531686 | NM_025161.6(FAAP100):c.2311-1G>A | Likely pathogenic |
SpliceAI
1968 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:81540951:C:CC | acceptor_gain | 1.0000 |
| 17:81541306:CA:C | donor_loss | 1.0000 |
| 17:81541307:A:AC | donor_gain | 1.0000 |
| 17:81541307:ACC:A | donor_loss | 1.0000 |
| 17:81541307:ACCT:A | donor_gain | 1.0000 |
| 17:81541308:C:CC | donor_gain | 1.0000 |
| 17:81541308:CCT:C | donor_gain | 1.0000 |
| 17:81541308:CCTC:C | donor_gain | 1.0000 |
| 17:81541391:ATCGT:A | acceptor_gain | 1.0000 |
| 17:81541392:TCGT:T | acceptor_gain | 1.0000 |
| 17:81541393:CGT:C | acceptor_gain | 1.0000 |
| 17:81541393:CGTC:C | acceptor_gain | 1.0000 |
| 17:81541394:GT:G | acceptor_gain | 1.0000 |
| 17:81541395:TCTG:T | acceptor_loss | 1.0000 |
| 17:81541396:C:CC | acceptor_gain | 1.0000 |
| 17:81541396:C:CG | acceptor_loss | 1.0000 |
| 17:81543999:CATA:C | donor_loss | 1.0000 |
| 17:81544000:ATACC:A | donor_loss | 1.0000 |
| 17:81544001:TA:T | donor_loss | 1.0000 |
| 17:81549201:CTCA:C | donor_loss | 1.0000 |
| 17:81549203:CAC:C | donor_loss | 1.0000 |
| 17:81549204:ACCT:A | donor_loss | 1.0000 |
| 17:81549205:CCT:C | donor_gain | 1.0000 |
| 17:81549359:CCAC:C | acceptor_gain | 1.0000 |
| 17:81549360:CAC:C | acceptor_gain | 1.0000 |
| 17:81549360:CACC:C | acceptor_gain | 1.0000 |
| 17:81549364:T:C | acceptor_loss | 1.0000 |
| 17:81552164:A:AC | donor_gain | 1.0000 |
| 17:81552165:C:CC | donor_gain | 1.0000 |
| 17:81552182:T:TA | donor_gain | 1.0000 |
AlphaMissense
5626 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:81547461:A:G | W541R | 0.994 |
| 17:81547461:A:T | W541R | 0.994 |
| 17:81550751:C:A | G248V | 0.992 |
| 17:81547603:G:C | S493R | 0.990 |
| 17:81547603:G:T | S493R | 0.990 |
| 17:81547605:T:G | S493R | 0.990 |
| 17:81550819:G:C | F225L | 0.986 |
| 17:81550819:G:T | F225L | 0.986 |
| 17:81550821:A:G | F225L | 0.986 |
| 17:81550411:G:C | S361R | 0.984 |
| 17:81550411:G:T | S361R | 0.984 |
| 17:81550413:T:G | S361R | 0.984 |
| 17:81547459:C:A | W541C | 0.983 |
| 17:81547459:C:G | W541C | 0.983 |
| 17:81551095:G:C | F133L | 0.983 |
| 17:81551095:G:T | F133L | 0.983 |
| 17:81551097:A:G | F133L | 0.983 |
| 17:81550807:A:C | F229L | 0.982 |
| 17:81550807:A:T | F229L | 0.982 |
| 17:81550809:A:G | F229L | 0.982 |
| 17:81544058:G:C | S791R | 0.980 |
| 17:81544058:G:T | S791R | 0.980 |
| 17:81544060:T:G | S791R | 0.980 |
| 17:81544071:A:G | I787T | 0.980 |
| 17:81550751:C:T | G248D | 0.980 |
| 17:81550745:A:G | L250P | 0.979 |
| 17:81547625:A:G | L486P | 0.978 |
| 17:81550649:A:T | V282D | 0.977 |
| 17:81547489:G:C | N531K | 0.975 |
| 17:81547489:G:T | N531K | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000196594 (17:81541601 C>A), RS1000423652 (17:81545647 G>GCC), RS1000781854 (17:81554588 T>A,C), RS1000929161 (17:81540029 C>G,T), RS1001020692 (17:81548346 G>T), RS1001026999 (17:81544661 C>T), RS1001217800 (17:81546148 GGGACCT>G), RS1001398303 (17:81542140 C>T), RS1001414641 (17:81553373 G>A), RS1001742754 (17:81553767 A>G), RS1001764327 (17:81541872 T>C), RS1001949984 (17:81554848 C>A), RS1002153818 (17:81549748 A>C), RS1002303164 (17:81545326 G>A), RS1002357462 (17:81541235 C>A,G,T)
Disease associations
OMIM: gene MIM:611301 | disease phenotypes: MIM:621258
GenCC curated gene-disease
Mondo (1): fanconi anemia, complementation group 10 (MONDO:0979241)
Orphanet (0):
HPO phenotypes
159 total (30 of 159 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000023 | Inguinal hernia |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000035 | Abnormal testis morphology |
| HP:0000047 | Hypospadias |
| HP:0000062 | Ambiguous genitalia |
| HP:0000072 | Hydroureter |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000083 | Renal insufficiency |
| HP:0000086 | Ectopic kidney |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000130 | Abnormality of the uterus |
| HP:0000135 | Hypogonadism |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000364 | Hearing abnormality |
| HP:0000365 | Hearing impairment |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000452 | Choanal stenosis |
| HP:0000453 | Choanal atresia |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases expression | 2 |
| Particulate Matter | increases abundance, affects cotreatment, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| 1-hydroxypyrene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | increases 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 | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | increases abundance, increases expression, affects cotreatment | 1 |
| Lead | affects methylation | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SG11 | HAP1 C17orf70 (-) 1 | Cancer cell line | Male |
| CVCL_SG12 | HAP1 C17orf70 (-) 2 | Cancer cell line | Male |
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): fanconi anemia, complementation group 10