FAM177A1
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Summary
FAM177A1 (family with sequence similarity 177 member A1, HGNC:19829) is a protein-coding gene on chromosome 14q13.2, encoding Protein FAM177A1 (Q8N128).
This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis.
Source: NCBI Gene 283635 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Mendelian neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 10
- Clinical variants (ClinVar): 71 total — 6 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 44
- MANE Select transcript:
NM_173607
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19829 |
| Approved symbol | FAM177A1 |
| Name | family with sequence similarity 177 member A1 |
| Location | 14q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000151327 |
| Ensembl biotype | protein_coding |
| OMIM | 619181 |
| Entrez | 283635 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 7 protein_coding, 7 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000280987, ENST00000382406, ENST00000553852, ENST00000553901, ENST00000553955, ENST00000554052, ENST00000554794, ENST00000555211, ENST00000555260, ENST00000556858, ENST00000699514, ENST00000699515, ENST00000699516, ENST00000699517, ENST00000871849, ENST00000927548
RefSeq mRNA: 3 — MANE Select: NM_173607
NM_001079519, NM_001289022, NM_173607
CCDS: CCDS41944, CCDS9653
Canonical transcript exons
ENST00000280987 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002447228 | 35053278 | 35053451 |
| ENSE00003976798 | 35078927 | 35079024 |
| ENSE00003976807 | 35081022 | 35083378 |
| ENSE00003976808 | 35077150 | 35077216 |
| ENSE00003976810 | 35046272 | 35046628 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 97.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.4670 / max 698.0613, expressed in 1821 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139200 | 27.6695 | 1819 |
| 139199 | 16.6382 | 1786 |
| 139202 | 8.1172 | 1754 |
| 139205 | 5.6516 | 1528 |
| 139203 | 5.0876 | 1543 |
| 139201 | 1.4003 | 944 |
| 139204 | 0.4883 | 234 |
| 139206 | 0.2697 | 103 |
| 139198 | 0.1284 | 54 |
| 139197 | 0.0161 | 9 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.87 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.55 | gold quality |
| left testis | UBERON:0004533 | 97.35 | gold quality |
| right testis | UBERON:0004534 | 97.29 | gold quality |
| corpus callosum | UBERON:0002336 | 97.05 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.04 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.00 | gold quality |
| rectum | UBERON:0001052 | 96.98 | gold quality |
| right lung | UBERON:0002167 | 96.88 | gold quality |
| spinal cord | UBERON:0002240 | 96.79 | gold quality |
| transverse colon | UBERON:0001157 | 96.27 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.20 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.15 | gold quality |
| myocardium | UBERON:0002349 | 96.07 | gold quality |
| cortical plate | UBERON:0005343 | 96.06 | gold quality |
| right coronary artery | UBERON:0001625 | 96.04 | gold quality |
| substantia nigra | UBERON:0002038 | 95.96 | gold quality |
| popliteal artery | UBERON:0002250 | 95.96 | gold quality |
| tibial artery | UBERON:0007610 | 95.95 | gold quality |
| ascending aorta | UBERON:0001496 | 95.92 | gold quality |
| aorta | UBERON:0000947 | 95.91 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.91 | gold quality |
| endothelial cell | CL:0000115 | 95.90 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.85 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.80 | gold quality |
| hypothalamus | UBERON:0001898 | 95.79 | gold quality |
| lower lobe of lung | UBERON:0008949 | 95.71 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.70 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 95.69 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.68 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-120 | yes | 1033.10 |
| E-MTAB-10287 | yes | 35.99 |
| E-GEOD-135922 | yes | 23.46 |
| E-CURD-122 | yes | 22.22 |
| E-MTAB-6701 | yes | 20.13 |
| E-CURD-46 | yes | 19.93 |
| E-ANND-3 | yes | 19.63 |
| E-CURD-88 | yes | 16.40 |
| E-HCAD-10 | yes | 7.73 |
| E-MTAB-6678 | yes | 5.02 |
| E-MTAB-7606 | no | 365.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
100 targeting FAM177A1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
Literature-anchored findings (GeneRIF, showing 3)
- Remarkable repression of c14orf24 by miR124a was detected during neurogenesis. (PMID:19663910)
- FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing TRAF6-Ubc13 Association. (PMID:34799425)
- Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. (PMID:38767059)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam177a1 | ENSDARG00000079636 |
| danio_rerio | FAM177A1 | ENSDARG00000100439 |
| mus_musculus | Fam177a2 | ENSMUSG00000094103 |
| mus_musculus | Fam177a | ENSMUSG00000095595 |
| rattus_norvegicus | Fam177a1 | ENSRNOG00000064975 |
| drosophila_melanogaster | CG8300 | FBGN0029937 |
Paralogs (1): FAM177B (ENSG00000197520)
Protein
Protein identifiers
Protein FAM177A1 — Q8N128 (reviewed: Q8N128)
All UniProt accessions (9): A0A087X212, A0A1Y8EH40, A0A8V8TNB7, Q8N128, G3V3Z5, G3V583, H0YJC3, H0YJX7, R4GN97
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Golgi apparatus.
Disease relevance. Neurodevelopmental disorder with white matter abnormalities and gait disturbance (NEDWMG) [MIM:621152] An autosomal recessive disorder characterized by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the FAM177 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N128-1 | 1 | yes |
| Q8N128-2 | 2 |
RefSeq proteins (3): NP_001072987, NP_001275951, NP_775878* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028260 | FAM177 | Family |
Pfam: PF14774
UniProt features (13 total): sequence conflict 4, modified residue 3, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N128-F1 | 64.64 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 1, 70, 71
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 94 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GTGCCTT_MIR506, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, COATES_MACROPHAGE_M1_VS_M2_DN, TGCCTTA_MIR124A, chr14q13, KATSANOU_ELAVL1_TARGETS_UP, STK33_SKM_UP, STK33_UP, FOXN3_TARGET_GENES, SKIL_TARGET_GENES, SNRNP70_TARGET_GENES, SRSF9_TARGET_GENES, ZNF202_TARGET_GENES, ZNF22_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
422 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM177A1 | KRTAP13-4 | Q3LI77 | 506 |
| FAM177A1 | C19orf18 | Q8NEA5 | 447 |
| FAM177A1 | MED29 | Q9NX70 | 431 |
| FAM177A1 | FAM222B | Q8WU58 | 430 |
| FAM177A1 | DEPDC7 | Q96QD5 | 426 |
| FAM177A1 | TCAIM | Q8N3R3 | 402 |
| FAM177A1 | C1GALT1C1L | P0DN25 | 392 |
| FAM177A1 | SSC4D | Q8WTU2 | 389 |
| FAM177A1 | ZNF572 | Q7Z3I7 | 382 |
| FAM177A1 | ARL6IP6 | Q8N6S5 | 374 |
| FAM177A1 | CLHC1 | Q8NHS4 | 371 |
| FAM177A1 | FAM120AOS | Q5T036 | 370 |
| FAM177A1 | WDR93 | Q6P2C0 | 368 |
| FAM177A1 | PRORP | O15091 | 368 |
| FAM177A1 | NAA16 | Q6N069 | 359 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM177A1 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM177A1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Rcc1 | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS31 | psi-mi:“MI:0914”(association) | 0.350 | |
| RHOJ | PRKCI | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS13 | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| FAM177A1 | LORICRIN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A3 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| STK38L | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (106): FAM177A1 (Affinity Capture-MS), FAM204A (Affinity Capture-MS), SLC27A2 (Affinity Capture-MS), C1orf27 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), STEAP3 (Affinity Capture-MS), AAGAB (Affinity Capture-MS), SLC4A1AP (Affinity Capture-MS), FAM207A (Affinity Capture-MS), SAR1B (Affinity Capture-MS), TGS1 (Affinity Capture-MS), ARMCX3 (Affinity Capture-MS), DHX38 (Affinity Capture-MS)
ESM2 similar proteins: A2AFR3, A6QLZ5, O08838, O94888, O95983, P0C6S7, P21580, P49418, P50478, Q05B58, Q08DU8, Q14161, Q14CM0, Q1RMZ1, Q32KN2, Q3KR37, Q3ZK22, Q497H0, Q5E948, Q5RD48, Q5REE1, Q5REY7, Q5RFL7, Q5U2M7, Q5UAK0, Q5ZIA0, Q5ZKA4, Q60769, Q66H91, Q6DC60, Q6ZPY2, Q7TQF7, Q7Z6G8, Q8BIZ1, Q8BR63, Q8BXK4, Q8IW50, Q8N108, Q8N128, Q8R3V6
Diamond homologs: A6PVY3, A6QLZ5, Q8BR63, Q8N128
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 3 |
| Uncertain significance | 42 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1686831 | NM_173607.5(FAM177A1):c.366_367dup (p.Trp123fs) | Pathogenic |
| 3775083 | FAM177A1, 8-KB DEL | Pathogenic |
| 3775084 | FAM177A1, 9.7-KB DEL | Pathogenic |
| 3775085 | FAM177A1, EX3DEL | Pathogenic |
| 3775086 | NM_173607.5(FAM177A1):c.268G>T (p.Glu90Ter) | Pathogenic |
| 3775087 | NM_173607.5(FAM177A1):c.209_210del (p.Ile70fs) | Pathogenic |
| 183348 | NM_173607.5(FAM177A1):c.366dup (p.Trp123fs) | Likely pathogenic |
| 870577 | NC_000014.9:g.35077780_35087566del | Likely pathogenic |
| 870589 | NC_000014.9:g.35044389_35052476del | Likely pathogenic |
SpliceAI
2301 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:35048726:G:T | donor_gain | 1.0000 |
| 14:35053277:GATGA:G | acceptor_gain | 1.0000 |
| 14:35053450:CGG:C | donor_loss | 1.0000 |
| 14:35053452:G:C | donor_loss | 1.0000 |
| 14:35053453:T:A | donor_loss | 1.0000 |
| 14:35078919:A:AG | acceptor_gain | 1.0000 |
| 14:35078920:T:G | acceptor_gain | 1.0000 |
| 14:35078924:CAGT:C | acceptor_loss | 1.0000 |
| 14:35078925:A:AG | acceptor_gain | 1.0000 |
| 14:35078925:AGT:A | acceptor_gain | 1.0000 |
| 14:35078925:AGTGT:A | acceptor_gain | 1.0000 |
| 14:35078926:G:GT | acceptor_gain | 1.0000 |
| 14:35078926:GT:G | acceptor_gain | 1.0000 |
| 14:35078926:GTG:G | acceptor_gain | 1.0000 |
| 14:35078926:GTGT:G | acceptor_gain | 1.0000 |
| 14:35078926:GTGTG:G | acceptor_gain | 1.0000 |
| 14:35079021:GGAG:G | donor_gain | 1.0000 |
| 14:35079022:G:GT | donor_gain | 1.0000 |
| 14:35079022:GAG:G | donor_gain | 1.0000 |
| 14:35079023:AGGT:A | donor_loss | 1.0000 |
| 14:35079024:GGTA:G | donor_loss | 1.0000 |
| 14:35079025:G:GG | donor_gain | 1.0000 |
| 14:35079025:GTAT:G | donor_loss | 1.0000 |
| 14:35081016:TTTTA:T | acceptor_loss | 1.0000 |
| 14:35081017:TTTAG:T | acceptor_loss | 1.0000 |
| 14:35081019:TAGG:T | acceptor_loss | 1.0000 |
| 14:35081020:A:AG | acceptor_gain | 1.0000 |
| 14:35081021:G:GT | acceptor_gain | 1.0000 |
| 14:35081021:GGAA:G | acceptor_gain | 1.0000 |
| 14:35085774:TCATC:T | acceptor_gain | 1.0000 |
AlphaMissense
1557 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:35077199:C:A | A107D | 1.000 |
| 14:35053359:T:C | F60L | 0.999 |
| 14:35053361:T:A | F60L | 0.999 |
| 14:35053361:T:G | F60L | 0.999 |
| 14:35077198:G:C | A107P | 0.999 |
| 14:35078929:T:C | C114R | 0.999 |
| 14:35078941:G:A | G118R | 0.999 |
| 14:35078941:G:C | G118R | 0.999 |
| 14:35078942:G:A | G118E | 0.999 |
| 14:35078982:G:C | K131N | 0.999 |
| 14:35078982:G:T | K131N | 0.999 |
| 14:35078983:T:C | Y132H | 0.999 |
| 14:35078993:C:A | A135D | 0.999 |
| 14:35079011:G:C | R141P | 0.999 |
| 14:35053360:T:C | F60S | 0.998 |
| 14:35077162:T:A | W95R | 0.998 |
| 14:35077162:T:C | W95R | 0.998 |
| 14:35077196:C:A | A106D | 0.998 |
| 14:35078930:G:A | C114Y | 0.998 |
| 14:35078983:T:G | Y132D | 0.998 |
| 14:35078984:A:C | Y132S | 0.998 |
| 14:35078984:A:G | Y132C | 0.998 |
| 14:35078996:T:A | I136N | 0.998 |
| 14:35053354:T:G | I58S | 0.997 |
| 14:35053369:G:T | G63V | 0.997 |
| 14:35053389:A:C | S70R | 0.997 |
| 14:35053391:C:A | S70R | 0.997 |
| 14:35053391:C:G | S70R | 0.997 |
| 14:35078933:A:C | D115A | 0.997 |
| 14:35078939:T:C | L117P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000023907 (14:35044751 G>A), RS1000071847 (14:35077725 A>C,G), RS1000092159 (14:35061064 G>A,C), RS1000157214 (14:35043161 C>T), RS1000173638 (14:35067776 T>A,G), RS1000194474 (14:35059760 G>T), RS1000286709 (14:35048842 G>A), RS1000352768 (14:35073306 G>A), RS1000444491 (14:35049031 C>G,T), RS1000509571 (14:35044423 C>G,T), RS1000614270 (14:35050154 G>A,C), RS1000678965 (14:35061500 A>G,T), RS1000725771 (14:35073747 C>G), RS1000861402 (14:35056504 T>A,G), RS1000918960 (14:35067407 C>T)
Disease associations
OMIM: gene MIM:619181 | disease phenotypes: MIM:621152
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Mendelian neurodevelopmental disorder | Strong | Autosomal recessive |
| complex neurodevelopmental disorder | Moderate | Autosomal recessive |
Mondo (4): intellectual disability (MONDO:0001071), neurodevelopmental disorder with white matter abnormalities and gait disturbance (MONDO:0976264), complex neurodevelopmental disorder (MONDO:0100038), Mendelian neurodevelopmental disorder (MONDO:0100500)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
44 total (30 of 44 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000490 | Deeply set eye |
| HP:0000519 | Developmental cataract |
| HP:0000540 | Hypermetropia |
| HP:0000565 | Esotropia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000646 | Amblyopia |
| HP:0000712 | Emotional lability |
| HP:0000718 | Aggressive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000737 | Irritability |
| HP:0000739 | Anxiety |
| HP:0000744 | Low frustration tolerance |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000954 | Single transverse palmar crease |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0001631 | Atrial septal defect |
| HP:0001763 | Pes planus |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0001999 | Abnormal facial shape |
| HP:0002007 | Frontal bossing |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004609_210 | Monocyte percentage of white cells | 1.000000e-10 |
| GCST004627_152 | Lymphocyte count | 8.000000e-13 |
| GCST005081_8 | Bipolar disorder lithium response (continuous) or schizophrenia | 2.000000e-08 |
| GCST005856_1 | Colorectal carcinoma in primary sclerosing cholangitis | 7.000000e-07 |
| GCST006491_3 | Circulating fibroblast growth factor 23 levels | 5.000000e-06 |
| GCST006585_1903 | Blood protein levels | 2.000000e-83 |
| GCST90002388_131 | Lymphocyte count | 9.000000e-21 |
| GCST90002394_480 | Monocyte percentage of white cells | 1.000000e-19 |
| GCST90002399_354 | Neutrophil percentage of white cells | 1.000000e-13 |
| GCST90020026_231 | Hip index | 5.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs79403677 | Efficacy | 3 | lithium | Bipolar Disorder |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs79403677 | FAM177A1 | 3 | 0.00 | 1 | lithium |
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1HS | HeLa M FAM177A1-KO | Cancer cell line | Female |
| CVCL_E1HT | HeLa M FAM117A1/VPS13B-DKO | Cancer cell line | Female |
Clinical trials (associated diseases)
199 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, Mendelian neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder, Mendelian neurodevelopmental disorder, neurodevelopmental disorder with white matter abnormalities and gait disturbance