TRIP10

Summary

TRIP10 (thyroid hormone receptor interactor 10, HGNC:12304) is a protein-coding gene on chromosome 19p13.3, encoding Cdc42-interacting protein 4 (Q15642). Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling.

Enables identical protein binding activity. Predicted to be involved in actin cytoskeleton organization and signal transduction. Located in nucleoplasm. Biomarker of Huntington’s disease.

Source: NCBI Gene 9322 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 129 total
• MANE Select transcript: NM_001288962

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12304
Approved symbol	TRIP10
Name	thyroid hormone receptor interactor 10
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	STP, HSTP, CIP4
Ensembl gene	ENSG00000125733
Ensembl biotype	protein_coding
OMIM	604504
Entrez	9322

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000313244, ENST00000313285, ENST00000595305, ENST00000595319, ENST00000596078, ENST00000596543, ENST00000596673, ENST00000596758, ENST00000598843, ENST00000600428, ENST00000600491, ENST00000600677, ENST00000601303, ENST00000894345, ENST00000894346, ENST00000894347, ENST00000921000, ENST00000921001, ENST00000943816, ENST00000943817, ENST00000943818, ENST00000943819, ENST00000943820, ENST00000943821

RefSeq mRNA: 3 — MANE Select: NM_001288962 NM_001288962, NM_001288963, NM_004240

CCDS: CCDS12172, CCDS74271, CCDS74272

Canonical transcript exons

ENST00000313244 — 15 exons

Exon	Start	End
ENSE00001231857	6746029	6746196
ENSE00003020022	6751063	6751530
ENSE00003038028	6739680	6739785
ENSE00003467315	6741225	6741281
ENSE00003471328	6744554	6744700
ENSE00003486193	6743494	6743598
ENSE00003491292	6743194	6743256
ENSE00003519369	6749934	6750066
ENSE00003530678	6742967	6743114
ENSE00003535838	6746452	6746561
ENSE00003543786	6750512	6750633
ENSE00003573809	6743708	6743836
ENSE00003606494	6741010	6741125
ENSE00003643572	6750292	6750431
ENSE00003647533	6744800	6744994

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 99.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6754 / max 90.4127, expressed in 1735 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173503	9.0575	1668
173505	3.2389	1375
173504	1.3789	833

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.51	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.78	gold quality
gastrocnemius	UBERON:0001388	98.73	gold quality
mucosa of stomach	UBERON:0001199	98.71	gold quality
apex of heart	UBERON:0002098	98.59	gold quality
muscle of leg	UBERON:0001383	98.54	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.41	gold quality
lower esophagus	UBERON:0013473	98.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.39	gold quality
ectocervix	UBERON:0012249	98.33	gold quality
esophagus mucosa	UBERON:0002469	98.32	gold quality
esophagus	UBERON:0001043	98.31	gold quality
metanephros cortex	UBERON:0010533	98.21	gold quality
descending thoracic aorta	UBERON:0002345	98.20	gold quality
right coronary artery	UBERON:0001625	98.14	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.14	gold quality
ascending aorta	UBERON:0001496	98.10	gold quality
thoracic aorta	UBERON:0001515	98.08	gold quality
right ovary	UBERON:0002118	98.08	gold quality
nerve	UBERON:0001021	98.05	gold quality
tibial nerve	UBERON:0001323	98.05	gold quality
left ovary	UBERON:0002119	98.04	gold quality
right lung	UBERON:0002167	98.00	gold quality
pharyngeal mucosa	UBERON:0000355	97.95	gold quality
aorta	UBERON:0000947	97.90	gold quality
left coronary artery	UBERON:0001626	97.84	gold quality
popliteal artery	UBERON:0002250	97.84	gold quality
tibial artery	UBERON:0007610	97.84	gold quality
endocervix	UBERON:0000458	97.78	gold quality
coronary artery	UBERON:0001621	97.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2, MSC

miRNA regulators (miRDB)

39 targeting TRIP10, 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-3163	100.00	77.23	8605
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-657	99.48	66.02	848
HSA-MIR-542-3P	99.34	67.58	1270

Literature-anchored findings (GeneRIF, showing 21)

• Identification and genetic analysis of human and mouse activated Cdc42 interacting protein-4 isoforms (PMID:12054674)
• CIP4 accumulation and cellular toxicity may have a role in Huntington’s disease pathogenesis (PMID:12604778)
• FNBP1 family proteins (FNBP1 and TRIP10) consist of FCH, FBH and SH3 domains. (PMID:12736724)
• These results indicate that CIP4 is critical for beta-catenin-mediated cell-cell adhesion. (PMID:16343437)
• Data showed the SH3 domain of CIP4 was bound to DAAM1 in vivo. (PMID:16630611)
• CIP4 is an important cytoskeletal adaptor that functions after filamentous actin accumulation and Cdc42 activation to enable microtubule organizing center polarization and NK cell cytotoxicity (PMID:17785506)
• CIP4 is a new ArgBP2 interacting protein that modulates the ArgBP2 mediated control of WAVE1 phosphorylation and cancer cell migration. (PMID:19631450)
• Cdc42-Interacting Protein-4 and FNBP1L protein potentially regulate later events in Epidermal Growth Factor Receptor endocytic trafficking that limits compartmentalized EGFR signaling. (PMID:19632321)
• CIP4 overexpression is associated with breast cancer. (PMID:20940394)
• Trip10 regulates cancer cell growth and death in a cancer type-specific manner. Differential DNA methylation of Trip10 can either promote cell survival or cell death in a cell type-dependent manner. (PMID:21299869)
• Study reveals a critical role of CIP4 in mediating chemotaxis of CLL cells by controlling the dynamics of microspike-containing protrusions and cell steering. (PMID:23644527)
• CIP4 plays a significant role in the intracellular hypertrophic signal transduction network that controls the growth of cardiac myocytes in heart disease. (PMID:23915320)
• CIP4 is a positive regulator of non small lung carcinoma metastasis and a potential poor prognostic biomarker in lung adenocarcinoma. (PMID:25174397)
• CIP4 controls cell-cell cohesion and is required for the acquisition of an invasive phenotype in breast tumors (PMID:25203208)
• CIP4 promotes metastasis in Triple negative breast cancer and is associated with poor prognosis. (PMID:25823823)
• results support a model in which AKAP350 recruits CIP4 to the centrosome, providing a centrosomal scaffold to integrate microtubule and actin dynamics, thus enabling centrosome polarization and ensuring cell migration directionality. (PMID:26208639)
• In cultured colorectal cancer (CRC) cells, knockdown of AKAP-9 inhibited cell proliferation, invasion, and migration. AKAP-9 deficiency also attenuated CRC tumor growth and metastasis in vivo. Mechanistically, AKAP-9 interacted with cdc42 interacting protein 4 (CIP4) and regulated its expression. (PMID:27039663)
• Data show that CIP4 is highly expressed in nasopharyngeal carcinoma (NPC) tissues and is associated with poor prognosis. Also, the study provides evidence that CIP4 plays an important role in the promotion of NPC metastasis by mediating invadopodia formation and activating the EGFR pathway. (PMID:28129778)
• FBP17 and CIP4 prime the membrane of resting cells for fast endophilin-mediated endocytosis by recruiting the 5’-lipid phosphatase SHIP2 and lamellipodin to mediate the local production of phosphatidylinositol-3,4-bisphosphate and endophilin pre-enrichment. (PMID:30061681)
• CIP4 PKA phosphorylation is associated with cancer cell invasiveness and metastasis. (PMID:31319138)
• Low expression of CIP4 in predicting worse overall survival: A potential biomarker for laryngeal cancer. (PMID:34570775)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	trip10a	ENSDARG00000005679
danio_rerio	trip10b	ENSDARG00000100788
mus_musculus	Trip10	ENSMUSG00000019487
rattus_norvegicus	Trip10	ENSRNOG00000055524
drosophila_melanogaster	Cip4	FBGN0035533
caenorhabditis_elegans		WBGENE00010663
caenorhabditis_elegans		WBGENE00017298

Paralogs (2): FNBP1L (ENSG00000137942), FNBP1 (ENSG00000187239)

Protein

Protein identifiers

Cdc42-interacting protein 4 — Q15642 (reviewed: Q15642)

Alternative names: Protein Felic, Salt tolerant protein, Thyroid receptor-interacting protein 10

All UniProt accessions (5): Q15642, M0R070, M0R0F9, M0R2H7, W4VSQ9

UniProt curated annotations — full annotation on UniProt →

Function. Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling. Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL.

Subunit / interactions. Interacts specifically with GTP-bound RHOQ. Interacts with DNM2 and PDE6G. Homodimerizes, the dimers can polymerize end-to-end to form filamentous structures. Interacts specifically with GTP-bound CDC42. Interacts with AKAP9, ARHGAP17, DAAM1, DIAPH1, DIAPH2, DNM1, FASLG/FASL, GAPVD1, LYN, microtubules, SRC, WAS/WASP and WASL/N-WASP. Interacts with the ligand binding domain of the thyroid receptor (TR) in the presence of thyroid hormone. May interact with CTNNB1 and HD/HTT.

Subcellular location. Cytoplasm. Cytoskeleton. Cell cortex. Lysosome. Golgi apparatus. Cell membrane. Cell projection. Phagocytic cup Cytoplasm. Perinuclear region.

Tissue specificity. Expressed in brain, colon, heart, kidney, liver, lung, megakaryocyte, ovary, pancreas, peripheral blood lymphocytes, placenta, prostate, skeletal muscle, small intestine, spleen, testis, thymus and trachea.

Post-translational modifications. Tyrosine phosphorylated. Also phosphorylated by PKA.

Domain organisation. The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation.

Induction. Induced by adriamycin treatment and this effect is counteracted by HGF/SF. Expression is reduced during differentiation.

Similarity. Belongs to the FNBP1 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q15642-1	1, L	yes
Q15642-2	2, A, W
Q15642-3	3, B
Q15642-4	4, C
Q15642-5	5, V

RefSeq proteins (3): NP_001275891, NP_001275892, NP_004231 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR001452	SH3_domain	Domain
IPR011072	HR1_rho-bd	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR031160	F_BAR_dom	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR057870	HR1_TOCA	Domain
IPR057871	HR1_CIP4_FNBP1L	Domain

Pfam: PF00018, PF00611, PF25610

UniProt features (68 total): region of interest 13, helix 13, strand 8, sequence conflict 7, compositionally biased region 6, modified residue 6, splice variant 6, domain 3, coiled-coil region 2, mutagenesis site 2, chain 1, site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2EFK	X-RAY DIFFRACTION	2.3
2CT4	SOLUTION NMR
2KE4	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15642-F1	80.69	0.64

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 166 (mediates end-to-end attachment of dimers)

Post-translational modifications (6): 296, 298, 299, 335, 351, 482

Mutagenesis-validated functional residues (2):

Position	Phenotype
454	abrogates interaction with cdc42.
468	impairs interaction with cdc42.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-9013406	RHOQ GTPase cycle

MSigDB gene sets: 253 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, LFA1_Q6, MODULE_522, MODULE_493, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, BROWNE_HCMV_INFECTION_24HR_UP, MODULE_120, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, FOSTER_TOLERANT_MACROPHAGE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN

GO Biological Process (4): endocytosis (GO:0006897), cell communication (GO:0007154), signal transduction (GO:0007165), actin cytoskeleton organization (GO:0030036)

GO Molecular Function (3): lipid binding (GO:0008289), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (13): phagocytic cup (GO:0001891), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), lysosome (GO:0005764), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoskeleton (GO:0005856), cell cortex (GO:0005938), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cytoplasm	4
cellular process	2
binding	2
cell periphery	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytoskeleton organization	1
actin filament-based process	1
protein binding	1
plasma membrane	1
nuclear lumen	1
intracellular anatomical structure	1
lytic vacuole	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
extracellular vesicle	1
membrane	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIP10	WAS	P42768	996
TRIP10	CDC42	P21181	994
TRIP10	WASL	O00401	956
TRIP10	FCHO2	Q0JRZ9	930
TRIP10	FCHO1	O14526	928
TRIP10	FES	P07332	917
TRIP10	ARHGAP17	Q68EM7	872
TRIP10	AMPH	P49418	863
TRIP10	BIN1	O00499	850
TRIP10	ITSN2	Q9NZM3	847
TRIP10	ARHGAP1	Q07960	802
TRIP10	PACSIN2	Q9UNF0	788
TRIP10	SRGAP3	O43295	785
TRIP10	SRGAP2	O75044	772
TRIP10	PACSIN1	Q9BY11	746

IntAct

80 interactions, top by confidence:

A	B	Type	Score
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
TRIP10	TRIP10	psi-mi:“MI:0915”(physical association)	0.740
TRIP10	TRIP10	psi-mi:“MI:0407”(direct interaction)	0.740
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
CDC42	TRIP10	psi-mi:“MI:0407”(direct interaction)	0.610
CDC42	TRIP10	psi-mi:“MI:0915”(physical association)	0.610
FASLG	TRIP10	psi-mi:“MI:0915”(physical association)	0.590
TRIP10	FASLG	psi-mi:“MI:0915”(physical association)	0.590
WASF1	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
TRIP10	ARHGAP44	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP12	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP17	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
SMARCE1	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
RHOJ	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
TRIP10	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
TRIP10	SMARCE1	psi-mi:“MI:0915”(physical association)	0.560
SH3BP1	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP44	TRIP10	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (142): TRIP10 (Two-hybrid), TRIP10 (Two-hybrid), TRIP10 (Two-hybrid), TRIP10 (Two-hybrid), ARHGAP44 (Two-hybrid), SH3BP1 (Two-hybrid), ARHGAP17 (Two-hybrid), RHOJ (Two-hybrid), ARHGAP12 (Two-hybrid), TRIP10 (Two-hybrid), TRIP10 (Affinity Capture-Western), WBP11 (Two-hybrid), COPA (Co-fractionation), COPB2 (Co-fractionation), COPE (Co-fractionation)

ESM2 similar proteins: A7MBI0, D3ZYR1, O13154, O43586, O55148, O60749, O60861, P09760, P16591, P70451, P97531, P97814, Q0JRZ9, Q15642, Q2HWF0, Q3KR97, Q3UQN2, Q4V920, Q5R411, Q5R807, Q5RCJ1, Q5T0N5, Q5U3Q6, Q60780, Q61644, Q6DCZ7, Q6GNV5, Q6GUF4, Q8CJ53, Q8I190, Q8I1A6, Q8I1C0, Q8I1I3, Q8K012, Q8T390, Q91VH2, Q99JB8, Q99M15, Q99N27, Q9BY11

Diamond homologs: P97531, Q09746, Q15642, Q2HWF0, Q4P3H6, Q5RCJ1, Q5T0N5, Q5U3Q6, Q6DCZ7, Q6GNV5, Q6GUF4, Q80TY0, Q8CJ53, Q8K012, Q8R511, Q96RU3, X2JAU8, A4IJ06, A8KBH6, A8XQD5, D3YXJ0, E9PUQ8, E9Q0S6, G5EC32, O14795, O35180, O45818, O94806, O95267, P04409, P05126, P05128, P05129, P05696, P05771, P05772, P09216, P10102, P10829, P10830

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
AKAP9	“up-regulates activity”	TRIP10	binding
TRIP10	“down-regulates activity”	ARHGAP17	binding
INS	up-regulates	TRIP10

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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
RAC1 GTPase cycle	8	10.0×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of actin cytoskeleton organization	6	15.5×	2e-03
endocytosis	6	9.4×	6e-03
actin cytoskeleton organization	6	7.8×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2152 predictions. Top by Δscore:

Variant	Effect	Δscore
19:6739782:GTGG:G	donor_gain	1.0000
19:6739784:GG:G	donor_gain	1.0000
19:6739785:GG:G	donor_gain	1.0000
19:6739786:G:GG	donor_gain	1.0000
19:6740993:A:AG	acceptor_gain	1.0000
19:6740993:ACCAT:A	acceptor_gain	1.0000
19:6740994:C:G	acceptor_gain	1.0000
19:6740996:A:AG	acceptor_gain	1.0000
19:6740996:AT:A	acceptor_gain	1.0000
19:6740997:T:G	acceptor_gain	1.0000
19:6741004:T:G	acceptor_gain	1.0000
19:6741004:T:TA	acceptor_gain	1.0000
19:6741008:A:AT	acceptor_loss	1.0000
19:6741008:AG:A	acceptor_gain	1.0000
19:6741009:GG:G	acceptor_gain	1.0000
19:6741106:GCT:G	donor_gain	1.0000
19:6741122:TGCGG:T	donor_loss	1.0000
19:6741123:GCG:G	donor_gain	1.0000
19:6741123:GCGGT:G	donor_loss	1.0000
19:6741124:CGGTG:C	donor_loss	1.0000
19:6741126:G:C	donor_loss	1.0000
19:6741126:G:GG	donor_gain	1.0000
19:6741127:T:G	donor_loss	1.0000
19:6741277:TCC:T	donor_gain	1.0000
19:6741282:G:GG	donor_gain	1.0000
19:6743104:A:T	donor_gain	1.0000
19:6743108:G:GT	donor_gain	1.0000
19:6743111:GATG:G	donor_gain	1.0000
19:6743253:GAAT:G	donor_gain	1.0000
19:6743257:G:GG	donor_gain	1.0000

AlphaMissense

3969 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:6743775:T:C	L194P	1.000
19:6751137:T:A	W578R	1.000
19:6751137:T:C	W578R	1.000
19:6743249:T:C	L134P	0.999
19:6743513:G:C	R143P	0.999
19:6743527:G:C	A148P	0.999
19:6743720:G:C	A176P	0.999
19:6751135:G:A	G577D	0.999
19:6751139:G:C	W578C	0.999
19:6751139:G:T	W578C	0.999
19:6741089:G:C	R35P	0.998
19:6743029:G:C	R87P	0.998
19:6743499:G:C	K138N	0.998
19:6743499:G:T	K138N	0.998
19:6743506:T:C	F141L	0.998
19:6743508:T:A	F141L	0.998
19:6743508:T:G	F141L	0.998
19:6743536:G:C	A151P	0.998
19:6743583:G:C	K166N	0.998
19:6743583:G:T	K166N	0.998
19:6743708:G:C	A172P	0.998
19:6743730:G:C	R179P	0.998
19:6743741:G:C	A183P	0.998
19:6743762:T:C	Y190H	0.998
19:6743762:T:G	Y190D	0.998
19:6750616:C:A	A547D	0.998
19:6751122:G:C	D573H	0.998
19:6751135:G:T	G577V	0.998
19:6751138:G:C	W578S	0.998
19:6751147:T:A	V581D	0.998

dbSNP variants (sampled 300 via entrez): RS1000179429 (19:6739872 C>T), RS1000307277 (19:6749612 A>G), RS1000348429 (19:6745008 C>T), RS1000590598 (19:6750030 C>A,G), RS1000909499 (19:6748463 C>T), RS1000917153 (19:6743648 G>C), RS1000997858 (19:6740422 C>G), RS1001095990 (19:6745438 C>T), RS1001141437 (19:6746837 T>G), RS1001258063 (19:6748125 C>G), RS1001346405 (19:6743918 G>C), RS1001348519 (19:6740687 CG>C,CGG), RS1001460123 (19:6737957 A>G), RS1001577580 (19:6738245 G>A), RS1001666891 (19:6743124 C>CT)

Disease associations

OMIM: gene MIM:604504 | 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

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, increases expression, increases methylation	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
2,4,6-tribromophenol	increases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects expression	1
cobaltous chloride	increases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
nickel acetate	affects expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Ascorbic Acid	decreases expression, affects cotreatment	1
Atrazine	increases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3K4	Abcam HEK293T TRIP10 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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