WASHC1

Summary

WASHC1 (WASH complex subunit 1, HGNC:24361) is a protein-coding gene on chromosome 9p24.3, encoding WASH complex subunit 1 (A8K0Z3). Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport…. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in several cellular components, including endosome; exocyst; and lamellipodium. Part of WASH complex.

Source: NCBI Gene 100287171 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 100 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_001378090

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24361
Approved symbol	WASHC1
Name	WASH complex subunit 1
Location	9p24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00038
Ensembl gene	ENSG00000181404
Ensembl biotype	protein_coding
OMIM	613632
Entrez	100287171

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000442898, ENST00000642633, ENST00000696149, ENST00000696150, ENST00000696151

RefSeq mRNA: 2 — MANE Select: NM_001378090 NM_001378090, NM_182905

CCDS: CCDS78375

Canonical transcript exons

ENST00000696149 — 11 exons

Exon	Start	End
ENSE00001676789	16965	17166
ENSE00001712759	18381	18492
ENSE00001724555	24851	25004
ENSE00003482868	15909	16061
ENSE00003492298	17344	17479
ENSE00003498112	17719	17855
ENSE00003568262	18028	18174
ENSE00003573188	16718	16876
ENSE00003680292	15081	15149
ENSE00003966203	14513	14940
ENSE00003966204	29312	29456

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 90.55.

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left uterine tube	UBERON:0001303	90.55	gold quality
lower esophagus	UBERON:0013473	90.38	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.38	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.06	gold quality
lower esophagus mucosa	UBERON:0035834	89.83	gold quality
apex of heart	UBERON:0002098	89.43	gold quality
body of uterus	UBERON:0009853	89.27	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.07	gold quality
myometrium	UBERON:0001296	88.99	gold quality
right uterine tube	UBERON:0001302	88.16	gold quality
spleen	UBERON:0002106	87.75	gold quality
skin of leg	UBERON:0001511	87.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.54	gold quality
endocervix	UBERON:0000458	87.53	gold quality
fundus of stomach	UBERON:0001160	87.49	gold quality
right lobe of thyroid gland	UBERON:0001119	87.48	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.42	gold quality
mucosa of transverse colon	UBERON:0004991	87.19	gold quality
esophagus	UBERON:0001043	87.08	gold quality
fallopian tube	UBERON:0003889	87.06	gold quality
zone of skin	UBERON:0000014	87.04	gold quality
vagina	UBERON:0000996	87.04	gold quality
gastrocnemius	UBERON:0001388	87.00	gold quality
cerebellum	UBERON:0002037	86.87	gold quality
left ovary	UBERON:0002119	86.84	gold quality
cerebellar hemisphere	UBERON:0002245	86.84	gold quality
cerebellar cortex	UBERON:0002129	86.82	gold quality
skin of abdomen	UBERON:0001416	86.56	gold quality
tibial nerve	UBERON:0001323	86.50	gold quality
prostate gland	UBERON:0002367	86.49	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.78
E-CURD-10	no	17.08
E-GEOD-99795	no	12.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting WASHC1, 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-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-6877-3P	98.98	65.83	560
HSA-MIR-6819-3P	98.95	65.57	572
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-5585-5P	97.95	68.80	1024
HSA-MIR-6781-3P	97.44	66.85	970
HSA-MIR-2682-3P	97.10	66.16	840
HSA-MIR-6828-3P	96.06	67.61	1155
HSA-MIR-572	85.62	59.34	30

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 15)

• WASH exists in a multiprotein complex containing FAM21, which links WASH to endosomes and is required for WASH-dependent retromer-mediated sorting. (PMID:19922874)
• Actin polymerization by WASH influences the shape and maturation of endosomes, and highlights a previously unrecognized role for WASH and the Arp2/3 complex in the degradative steps of endocytic trafficking. (PMID:20175130)
• WASH and Arp2/3 regulates integrin alpha5beta1-mediated invasive cell migration. (PMID:22114305)
• Data show that a component of the WASH regulatory complex (SHRC), FAM21, directly interacts with the retromer CSC protein VPS35. (PMID:22513087)
• WASH and the exocyst complex are required for matrix degradation by an exocytic mechanism that involves tubular connections between MT1-MMP-positive late endosomes and the plasma membrane in contact with the matrix. (PMID:24344185)
• FAM21 not only functions as an integral component of the cytoplasmic WASH complex, but also modulates NF-kappaB gene transcription in the nucleus. (PMID:25431135)
• The WASH-VPEF/FAM21-retromer complexe mediates endosome fission and sorting of virus-containing vesicles prior to virus core uncoating in the cytoplasm. (PMID:26041286)
• Stress-internalized EGFR co-segregates with exogenously expressed pre-melanosomal markers OA1 and fibrillar PMEL, following early endosomal sorting by the actin polymerization-promoting WASH complex (PMID:26066081)
• The USP7 deubiquitinating enzyme is an integral component of the MAGE-L2-TRIM27 ligase and is essential for WASH-mediated endosomal actin assembly and protein recycling. (PMID:26365382)
• WASH has a pivotal role for regulation of NK cell cytotoxicity through Lck-mediated Y141 tyrosine phosphorylation. (PMID:27441653)
• ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters. (PMID:27909246)
• Its mutation is not found in a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity. (PMID:28551275)
• WASH-mediated AHR expression has a critical function in the maintenance of NKp46+ innate lymphoid cells (PMID:28589939)
• In this study, we uncover an alternative role for the ESCRT-0 component hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) in promoting the constitutive recycling of transmembrane proteins. We find that endosomal localization of the actin nucleating factor Wiscott-Aldrich syndrome protein and SCAR homologue (WASH) requires HRS, which occupies adjacent endosomal subdomains (PMID:29891722)
• WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress. (PMID:35733063)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	wash1	ENSDARG00000063457
mus_musculus	Washc1	ENSMUSG00000024101
rattus_norvegicus	Washc1	ENSRNOG00000053306
drosophila_melanogaster	wash	FBGN0033692
caenorhabditis_elegans		WBGENE00013000

Paralogs (1): WASH6P (ENSG00000182484)

Protein

Protein identifiers

WASH complex subunit 1 — A8K0Z3 (reviewed: A8K0Z3)

Alternative names: CXYorf1-like protein on chromosome 9, Protein FAM39E, WAS protein family homolog 1

All UniProt accessions (3): A0A2R8YDD3, A0A8Q3SIH9, A8K0Z3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity.

Subunit / interactions. Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts (via WHD1 region) with WASHC2C; the interaction is direct. Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with alpha-tubulin. Interacts with BECN1; this interaction can be competed out by AMBRA1 binding. Interacts with BLOC1S2; may associate with the BLOC-1 complex. Interacts with tubulin gamma chain (TUBG1 or TUBG2). Interacts with EXOC1, EXOC4, EXOC8; in MMP14-positive endosomes in breast tumor cells; indicative for an association with the exocyst complex. Interacts with TBC1D23.

Subcellular location. Early endosome membrane. Recycling endosome membrane. Late endosome. Cytoplasmic vesicle. Autophagosome. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Post-translational modifications. Ubiquitinated at Lys-220 via ‘Lys-63’-linked ubiquitin chains by the TRIM27:MAGEL2 E3 ubiquitin ligase complex, leading to promote endosomal F-actin assembly.

Domain organisation. The VCA (verprolin, cofilin, acidic) domain promotes actin polymerization by the Arp2/3 complex in vitro.

Miscellaneous. WASH genes duplicated to multiple chromosomal ends during primate evolution, with highest copy number reached in humans, whose WASH repertoires probably vary extensively among individuals. It is therefore difficult to determine which gene is functional or not. The telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q. Paralogous regions contain 7 transcriptional units. Duplicated WASH genes are also present in the Xq/Yq pseudoautosomal region, as well as on chromosome 1 and 15. The chromosome 16 copy seems to be a pseudogene.

Similarity. Belongs to the WASH1 family.

RefSeq proteins (2): NP_001365019, NP_878908 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021854	WASH1_WAHD	Domain
IPR028290	WASH1	Family

Pfam: PF11945

UniProt features (30 total): sequence conflict 15, region of interest 6, compositionally biased region 4, mutagenesis site 2, chain 1, domain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8K0Z3-F1	66.21	0.10

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): 220

Mutagenesis-validated functional residues (2):

Position	Phenotype
220	abolishes ubiquitination by the trim27:magel2 e3 ubiquitin ligase complex and impairs retrograde transport.
463	impairs retrograde transport from endosome to golgi apparatus.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_ACTIN_NUCLEATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_EXOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_SECRETION, GOBP_REGULATION_OF_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (12): exocytosis (GO:0006887), negative regulation of autophagy (GO:0010507), protein transport (GO:0015031), endosomal transport (GO:0016197), extracellular matrix disassembly (GO:0022617), positive regulation of cell migration (GO:0030335), positive regulation of pseudopodium assembly (GO:0031274), regulation of protein ubiquitination (GO:0031396), endocytic recycling (GO:0032456), Arp2/3 complex-mediated actin nucleation (GO:0034314), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), retrograde transport, endosome to Golgi (GO:0042147)

GO Molecular Function (6): actin binding (GO:0003779), ubiquitin protein ligase binding (GO:0031625), alpha-tubulin binding (GO:0043014), gamma-tubulin binding (GO:0043015), phosphatidylinositol 3-kinase inhibitor activity (GO:0141039), protein binding (GO:0005515)

GO Cellular Component (15): early endosome (GO:0005769), late endosome (GO:0005770), autophagosome (GO:0005776), centriole (GO:0005814), cytosol (GO:0005829), early endosome membrane (GO:0031901), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), WASH complex (GO:0071203), exocyst (GO:0000145), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome	3
cytoplasm	3
cellular anatomical structure	3
vesicle-mediated transport	2
endosomal transport	2
tubulin binding	2
intracellular membraneless organelle	2
endosome membrane	2
secretion by cell	1
vesicle fusion to plasma membrane	1
autophagy	1
negative regulation of catabolic process	1
regulation of autophagy	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
intracellular transport	1
cellular component disassembly	1
extracellular matrix organization	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
pseudopodium assembly	1
regulation of pseudopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
protein ubiquitination	1
regulation of protein modification by small protein conjugation or removal	1
vesicle-mediated transport to the plasma membrane	1
actin nucleation	1
Arp2/3 complex-mediated actin nucleation	1
regulation of actin nucleation	1
intercellular transport	1
cytosolic transport	1
cytoskeletal protein binding	1
ubiquitin-like protein ligase binding	1
phosphatidylinositol 3-kinase regulator activity	1
binding	1
vacuole	1
microtubule organizing center	1
early endosome	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WASHC1	WASHC3	Q9Y3C0	997
WASHC1	WASHC5	Q12768	996
WASHC1	WASHC4	Q2M389	996
WASHC1	WASHC2C	Q9Y4E1	961
WASHC1	WASHC2A	Q641Q2	887
WASHC1	IGF2R	P11717	799
WASHC1	WAS	P42768	754
WASHC1	SNX27	Q96L92	738
WASHC1	VPS26A	O75436	728
WASHC1	BLOC1S2	Q6QNY1	693
WASHC1	VPS35	Q96QK1	670
WASHC1	CCDC93	Q567U6	658
WASHC1	VPS29	Q9UBQ0	643
WASHC1	WASF1	Q92558	629
WASHC1	SNX1	Q13596	598

IntAct

31 interactions, top by confidence:

A	B	Type	Score
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
EXOC8	WASHC1	psi-mi:“MI:2364”(proximity)	0.550
EXOC8	WASHC1	psi-mi:“MI:0915”(physical association)	0.550
EXOC1	WASHC1	psi-mi:“MI:0915”(physical association)	0.510
BECN1	WASHC1	psi-mi:“MI:0915”(physical association)	0.460
WASHC1	BECN1	psi-mi:“MI:0915”(physical association)	0.460
BECN1	WASHC1	psi-mi:“MI:0403”(colocalization)	0.460
FKBP15	WASHC1	psi-mi:“MI:0403”(colocalization)	0.430
WASHC1	EXOC4	psi-mi:“MI:0915”(physical association)	0.400
WASHC1	CTTN	psi-mi:“MI:0403”(colocalization)	0.380
CTTN	WASHC1	psi-mi:“MI:0403”(colocalization)	0.380
WASHC1	CTTN	psi-mi:“MI:2364”(proximity)	0.380
Vps29	WASHC1	psi-mi:“MI:0914”(association)	0.350
WASHC5	WASHC1	psi-mi:“MI:0914”(association)	0.350
VPS35	WASHC1	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
WASHC1	WASH3P	psi-mi:“MI:0914”(association)	0.350
WASHC3	WASHC1	psi-mi:“MI:0914”(association)	0.350
Vps35	WASHC1	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP152	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
SNX1	WASHC1	psi-mi:“MI:0403”(colocalization)	0.270
WASHC1	SQSTM1	psi-mi:“MI:0403”(colocalization)	0.270
WASHC1	EXOC1	psi-mi:“MI:0915”(physical association)	0.000
WASHC1	EXOC8	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (102): WASH1 (Proximity Label-MS), WASH1 (Proximity Label-MS), WASH1 (Affinity Capture-Western), WASH1 (Affinity Capture-Western), HGS (Co-localization), EEA1 (Co-localization), WASH1 (Affinity Capture-MS), WASH1 (Affinity Capture-Western), WASH1 (Two-hybrid), WASH1 (Two-hybrid), WASH1 (Two-hybrid), WASH1 (Two-hybrid), WASH1 (Two-hybrid), WASH1 (Two-hybrid), WASH1 (Two-hybrid)

ESM2 similar proteins: A4IG59, A7Z063, A8K0Z3, A8MWX3, B0BN56, B2RYF7, C4AMC7, E7EXT2, F1RCE7, O08719, O18195, O48713, O75061, P70429, P82925, P92204, Q08BD8, Q28DN4, Q28Y46, Q53HL2, Q54CK9, Q54NF8, Q561X3, Q5M8Y7, Q5R896, Q5RBS5, Q5U4A3, Q5XG48, Q5XLR4, Q5ZKA6, Q61733, Q68FU8, Q6AXW0, Q6DD45, Q6VEQ5, Q7JW27, Q7K2D2, Q8BHX3, Q8BYZ1, Q8CH02

Diamond homologs: A4IG59, A7Z063, A8K0Z3, A8MWX3, B2RYF7, C4AMC7, Q28DN4, Q54CK9, Q5U4A3, Q5ZKA6, Q6VEQ5, Q8VDD8, Q9NQA3, Q7JW27, O18195

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TRIM27	“up-regulates activity”	WASHC1	ubiquitination
MAGEL2	“up-regulates activity”	WASHC1	binding
WASHC1	“form complex”	“WASH complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of macroautophagy	5	82.1×	7e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

100 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2057 predictions. Top by Δscore:

Variant	Effect	Δscore
9:15904:CTCA:C	donor_loss	1.0000
9:15905:TCA:T	donor_loss	1.0000
9:15906:CACCT:C	donor_loss	1.0000
9:15907:A:AC	donor_gain	1.0000
9:15907:ACC:A	donor_loss	1.0000
9:15908:C:CA	donor_loss	1.0000
9:15908:C:CC	donor_gain	1.0000
9:15908:CCTTG:C	donor_gain	1.0000
9:16057:CTGGA:C	acceptor_gain	1.0000
9:16062:C:CC	acceptor_gain	1.0000
9:16069:C:CT	acceptor_gain	1.0000
9:16070:G:T	acceptor_gain	1.0000
9:16075:G:C	acceptor_gain	1.0000
9:16075:G:GC	acceptor_gain	1.0000
9:16083:C:CT	acceptor_gain	1.0000
9:17163:GGAC:G	acceptor_gain	1.0000
9:17164:GAC:G	acceptor_gain	1.0000
9:17167:C:CC	acceptor_gain	1.0000
9:17171:A:T	acceptor_gain	1.0000
9:17175:T:TC	acceptor_gain	1.0000
9:17717:A:AC	donor_gain	1.0000
9:17718:C:CC	donor_gain	1.0000
9:17756:CAGAG:C	donor_gain	1.0000
9:17760:G:C	donor_gain	1.0000
9:17990:T:TA	donor_gain	1.0000
9:24848:CAC:C	donor_loss	1.0000
9:24849:ACCT:A	donor_loss	1.0000
9:24850:CCTG:C	donor_gain	1.0000
9:15079:AC:A	donor_gain	0.9900
9:15080:CC:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1005686096 (9:27195 G>A), RS1005794586 (9:23634 G>A), RS1007597022 (9:31886 G>C), RS1011539562 (9:14246 G>A,C), RS1013045326 (9:17024 G>C), RS1013430895 (9:23380 G>A,T), RS1015790659 (9:27413 T>C,G), RS1015820456 (9:23666 G>A), RS1017288123 (9:31888 G>A,C), RS1017735987 (9:28185 G>C), RS1022064891 (9:14285 G>C), RS1023116223 (9:23385 G>C), RS1023572411 (9:17032 G>A,C), RS1029982525 (9:28023 A>C), RS1030017185 (9:23708 C>T)

Disease associations

OMIM: gene MIM:613632 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, 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	increases expression	1
Sunitinib	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Doxorubicin	affects expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.