TACC1

Summary

TACC1 (transforming acidic coiled-coil containing protein 1, HGNC:11522) is a protein-coding gene on chromosome 8p11.22, encoding Transforming acidic coiled-coil-containing protein 1 (O75410). Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways.

This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6867 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 136 total
• MANE Select transcript: NM_006283

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11522
Approved symbol	TACC1
Name	transforming acidic coiled-coil containing protein 1
Location	8p11.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000147526
Ensembl biotype	protein_coding
OMIM	605301
Entrez	6867

Gene structure

Transcript identifiers

Ensembl transcripts: 62 — 49 protein_coding, 7 protein_coding_CDS_not_defined, 5 retained_intron, 1 nonsense_mediated_decay

ENST00000276520, ENST00000317827, ENST00000517336, ENST00000518415, ENST00000518809, ENST00000519093, ENST00000519416, ENST00000520340, ENST00000520611, ENST00000520615, ENST00000520973, ENST00000521050, ENST00000521154, ENST00000521528, ENST00000521568, ENST00000521642, ENST00000521866, ENST00000521935, ENST00000522474, ENST00000522544, ENST00000522548, ENST00000522752, ENST00000522904, ENST00000522955, ENST00000522983, ENST00000523239, ENST00000523834, ENST00000524193, ENST00000524354, ENST00000885319, ENST00000885320, ENST00000885321, ENST00000885322, ENST00000885323, ENST00000885324, ENST00000885325, ENST00000885326, ENST00000885327, ENST00000885328, ENST00000885329, ENST00000885330, ENST00000885331, ENST00000885332, ENST00000885333, ENST00000885334, ENST00000885335, ENST00000885336, ENST00000885337, ENST00000885338, ENST00000885339, ENST00000885340, ENST00000885341, ENST00000885342, ENST00000885343, ENST00000885344, ENST00000885345, ENST00000885346, ENST00000943626, ENST00000943627, ENST00000943628, ENST00000943629, ENST00000943630

RefSeq mRNA: 30 — MANE Select: NM_006283 NM_001122824, NM_001146216, NM_001330521, NM_001352778, NM_001352779, NM_001352780, NM_001352781, NM_001352782, NM_001352783, NM_001352784, NM_001352785, NM_001352786, NM_001352787, NM_001352788, NM_001352789, NM_001352790, NM_001352791, NM_001352792, NM_001352793, NM_001352794, NM_001352795, NM_001352796, NM_001352797, NM_001352798, NM_001352799, NM_001352801, NM_001352802, NM_001352803, NM_001352804, NM_006283

CCDS: CCDS47845, CCDS55224, CCDS6109, CCDS83284, CCDS87601, CCDS87602, CCDS94286

Canonical transcript exons

ENST00000317827 — 13 exons

Exon	Start	End
ENSE00001277207	38787236	38787743
ENSE00001744465	38840224	38840267
ENSE00003511086	38846699	38846819
ENSE00003530568	38847955	38853028
ENSE00003550975	38838470	38838546
ENSE00003552570	38825308	38825368
ENSE00003610290	38843289	38843395
ENSE00003648800	38788704	38788819
ENSE00003654794	38836162	38836287
ENSE00003673155	38842287	38842447
ENSE00003673629	38827168	38827375
ENSE00003693289	38819522	38820635
ENSE00003789143	38831125	38831177

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.3839 / max 639.6168, expressed in 1812 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88527	13.8619	1779
88526	7.5115	1697
88516	4.1850	324
88530	3.5147	837
88522	2.2639	703
88509	0.9608	225
88532	0.8812	257
88531	0.8698	362
88520	0.8500	375
88513	0.6594	233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.41	gold quality
calcaneal tendon	UBERON:0003701	99.22	gold quality
seminal vesicle	UBERON:0000998	99.17	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.03	gold quality
colonic epithelium	UBERON:0000397	98.99	gold quality
superficial temporal artery	UBERON:0001614	98.97	gold quality
visceral pleura	UBERON:0002401	98.97	gold quality
lower lobe of lung	UBERON:0008949	98.93	gold quality
endothelial cell	CL:0000115	98.80	gold quality
olfactory bulb	UBERON:0002264	98.80	gold quality
pleura	UBERON:0000977	98.78	gold quality
parietal pleura	UBERON:0002400	98.69	gold quality
saphenous vein	UBERON:0007318	98.65	gold quality
middle frontal gyrus	UBERON:0002702	98.64	gold quality
cauda epididymis	UBERON:0004360	98.58	gold quality
postcentral gyrus	UBERON:0002581	98.56	gold quality
synovial joint	UBERON:0002217	98.52	gold quality
skin of hip	UBERON:0001554	98.51	gold quality
urethra	UBERON:0000057	98.49	gold quality
pericardium	UBERON:0002407	98.39	gold quality
sural nerve	UBERON:0015488	98.36	gold quality
parietal lobe	UBERON:0001872	98.35	gold quality
pigmented layer of retina	UBERON:0001782	98.32	gold quality
frontal pole	UBERON:0002795	98.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.28	gold quality
inferior olivary complex	UBERON:0002127	98.27	gold quality
lower esophagus	UBERON:0013473	98.26	gold quality
blood vessel layer	UBERON:0004797	98.25	gold quality
trabecular bone tissue	UBERON:0002483	98.24	gold quality
entorhinal cortex	UBERON:0002728	98.24	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	127.54
E-GEOD-135922	yes	37.78
E-CURD-119	yes	36.45
E-CURD-46	yes	27.97
E-HCAD-35	yes	20.76
E-HCAD-9	yes	16.42
E-MTAB-9543	yes	7.69
E-GEOD-137537	yes	6.05
E-HCAD-25	yes	5.31
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

260 targeting TACC1, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4425	100.00	67.59	1049
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882

Literature-anchored findings (GeneRIF, showing 15)

• Interaction of the transforming acidic coiled-coil 1 (TACC1) protein with ch-TOG and GAS41/NuBI1 suggests multiple TACC1-containing protein complexes in human cells (PMID:11903063)
• Down regulation of tacc1 controls mrna homeostasis in polarized cells and participates in oncogenic processes in human cancers (PMID:12165861)
• REVIEW: genetics, expression, gene expression regulation, and function studies (PMID:12389629)
• Splicing pattern of its mRNA is altered in stomach cancer (PMID:12547166)
• TACC1 and the mitotic kinase Aurora B belong to the same complex during cytokinesis. (PMID:15064709)
• Splice variants can be localized to different subcellular compartments in a cell-and tissue-specific manner. (PMID:16496324)
• TACC1 and a three-gene expression signature (TACC1, NOV, and PTTG1) were identified as independent prognostic markers. (PMID:18984771)
• TACC1 depletion in the cell led to decreased RARalpha and TRalpha ligand-dependent transcriptional activity and to delocalization of TR from the nucleus to the cytoplasm. (PMID:20078863)
• the study demonstrated that TACC1 localizes at the midbody during cytokinesis and interacts with and is a substrate of Aurora-C, which warrant further investigation in order to elucidate the functional significance of this interaction. (PMID:21531210)
• study reports that a small subset of glioblastoma multiforme tumors harbors oncogenic chromosomal translocations that fuse in-frame the tyrosine kinase coding domains of fibroblast growth factor receptor genes(FGFR1 or FGFR3) to the transforming acidic coiled-coil coding domains of TACC1 or TACC3; the FGFR-TACC fusion protein displays oncogenic activity (PMID:22837387)
• These findings provide proof and the foundation for the molecular and biological relationships of ErbB-2 and TACC1 in breast cancer. (PMID:23354013)
• TFF3 and TACC1 over-expression in epithelial cells of surgically resected gastric cancer tissues was an independent predictor of short survival in gastric cancer patients. (PMID:24358147)
• The correlation between TACC1 expression and HER-2-positive status indicates synergistic regulation of these two prognostic markers in gastric carcinoma patients. (PMID:25297519)
• Neurofibrosarcoma Revisited: An Institutional Case Series of Uterine Sarcomas Harboring Kinase-related Fusions With Report of a Novel FGFR1-TACC1 Fusion. (PMID:33481389)
• LINC01140 inhibits nonsmall cell lung cancer progression and cisplatin resistance through the miR-4742-5p/TACC1 axis. (PMID:35307914)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tacc1	ENSDARG00000073753
mus_musculus	Tacc1	ENSMUSG00000065954
rattus_norvegicus	Tacc1	ENSRNOG00000016423
drosophila_melanogaster	tacc	FBGN0026620

Paralogs (2): TACC3 (ENSG00000013810), TACC2 (ENSG00000138162)

Protein

Protein identifiers

Transforming acidic coiled-coil-containing protein 1 — O75410 (reviewed: O75410)

Alternative names: Gastric cancer antigen Ga55, Taxin-1

All UniProt accessions (14): O75410, A0A0C4DGD3, A0A0C4DGD5, B4E3H6, E5RFM9, E5RI10, E5RIP3, E5RJG6, E5RJU4, E7ET87, E7EVI4, H0YAY0, H0YBT8, R4GMT7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways. Might promote the nuclear localization of the receptors. Likely involved in the processes that promote cell division prior to the formation of differentiated tissues.

Subunit / interactions. Interacts with KIAA0097/CH-TOG and with the oncogenic transcription factor YEATS4. Interacts with AURKA, AURKB and AURKC. Interacts with LSM7, TDRD7 and SNRPG. Interacts with GCN5L2 and PCAF. Interacts with the thyroid hormone receptors THRB and THRA, predominantly with isoform alpha-2. The interaction with THRA isoform alpha-1 and THRB is decreased in the presence of thyroid hormone T3. Also interacts with other nuclear receptors, including ESR1, NR3C1, PPARG, RARA and RXRA, preferentially in the absence of their hormonal ligands.

Subcellular location. Cytoplasm. Nucleus. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody Membrane Cytoplasm.

Tissue specificity. Isoform 1, isoform 3 and isoform 5 are ubiquitous. Isoform 2 is strongly expressed in the brain, weakly detectable in lung and colon, and overexpressed in gastric cancer. Isoform 4 is not detected in normal tissues, but strong expression was found in gastric cancer tissues. Down-regulated in a subset of cases of breast cancer.

Post-translational modifications. Isoform 1 is heavily phosphorylated; isoform 6 is not.

Similarity. Belongs to the TACC family.

Isoforms (10)

UniProt ID	Names	Canonical?
O75410-1	1, A, Long, TACC1-A	yes
O75410-2	2, F, TACC1-G
O75410-3	3, E
O75410-4	4, D
O75410-5	5, C
O75410-6	6, Short, TACC1-S
O75410-7	7
O75410-8	8
O75410-9	9, TACC1-K
O75410-10	10, TACC1-J

RefSeq proteins (29): NP_001116296, NP_001139688, NP_001317450, NP_001339707, NP_001339708, NP_001339709, NP_001339710, NP_001339711, NP_001339712, NP_001339713, NP_001339714, NP_001339715, NP_001339716, NP_001339717, NP_001339718, NP_001339719, NP_001339720, NP_001339721, NP_001339722, NP_001339723, NP_001339724, NP_001339725, NP_001339726, NP_001339727, NP_001339728, NP_001339730, NP_001339732, NP_001339733, NP_006274* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007707	TACC_C	Domain
IPR039915	TACC	Family

Pfam: PF05010

UniProt features (61 total): modified residue 14, splice variant 12, compositionally biased region 9, region of interest 7, sequence conflict 5, sequence variant 3, initiator methionine 2, short sequence motif 2, domain 2, mutagenesis site 2, chain 1, coiled-coil region 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75410-F1	57.69	0.26

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 (15): 2, 4, 10, 44, 147, 153, 228, 248, 276, 381, 406, 483, 533, 591, 2

Mutagenesis-validated functional residues (2):

Position	Phenotype
228	impairs phosphorylation by aurkc.
609–610	decreases interaction with thra.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 347 (showing top): AHRARNT_01, CREL_01, MODULE_97, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, MORF_SNRP70, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_182, ATGCAGT_MIR217, TOMLINS_PROSTATE_CANCER_DN, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER

GO Biological Process (6): microtubule cytoskeleton organization (GO:0000226), mitotic spindle organization (GO:0007052), nuclear migration (GO:0007097), cerebral cortex development (GO:0021987), cell division (GO:0051301), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (9): transcription coactivator activity (GO:0003713), nuclear receptor binding (GO:0016922), nuclear estrogen receptor binding (GO:0030331), nuclear glucocorticoid receptor binding (GO:0035259), nuclear retinoic acid receptor binding (GO:0042974), peroxisome proliferator activated receptor binding (GO:0042975), nuclear retinoid X receptor binding (GO:0046965), nuclear thyroid hormone receptor binding (GO:0046966), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), membrane (GO:0016020), midbody (GO:0030496), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear receptor binding	4
cellular anatomical structure	4
cytoskeleton organization	1
microtubule-based process	1
mitotic cell cycle	1
spindle organization	1
microtubule cytoskeleton organization involved in mitosis	1
intracellular transport	1
nucleus localization	1
establishment of organelle localization	1
pallium development	1
anatomical structure development	1
cellular process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
signaling receptor binding	1
nuclear retinoic acid receptor binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TACC1	CKAP5	Q14008	951
TACC1	FGFR1	P11362	864
TACC1	CEP120	Q8N960	827
TACC1	FGFR3	P22607	806
TACC1	SPICE1	Q8N0Z3	786
TACC1	YEATS4	O95619	775
TACC1	LSM7	Q9UK45	763
TACC1	SNX31	Q8N9S9	667
TACC1	TDRD7	Q8NHU6	652
TACC1	TACC3	Q9Y6A5	627
TACC1	FGFR2	P18443	617
TACC1	WHR1	P49842	614
TACC1	PPP6C	O00743	563
TACC1	AURKA	O14965	528
TACC1	KIAA1549	Q9HCM3	512

IntAct

125 interactions, top by confidence:

A	B	Type	Score
TACC1	CKAP5	psi-mi:“MI:0915”(physical association)	0.800
CKAP5	TACC1	psi-mi:“MI:0914”(association)	0.800
CKAP5	TACC1	psi-mi:“MI:0407”(direct interaction)	0.800
BTRC	TACC1	psi-mi:“MI:0915”(physical association)	0.740
TACC1	BTRC	psi-mi:“MI:0915”(physical association)	0.740
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TACC1	SH2D4A	psi-mi:“MI:0915”(physical association)	0.670
TACC1	MEMO1	psi-mi:“MI:0915”(physical association)	0.670
MEMO1	TACC1	psi-mi:“MI:0915”(physical association)	0.670
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
PFDN1	PFDN6	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
TACC1	TDRD7	psi-mi:“MI:0915”(physical association)	0.580

BioGRID (267): TACC1 (Affinity Capture-MS), TACC1 (Two-hybrid), TACC1 (Two-hybrid), BTRC (Two-hybrid), MEMO1 (Two-hybrid), SH2D4A (Two-hybrid), TACC1 (Affinity Capture-MS), TACC1 (Affinity Capture-MS), TACC1 (Affinity Capture-MS), TACC1 (Two-hybrid), LYST (Affinity Capture-MS), TACC1 (Affinity Capture-MS), TACC1 (Affinity Capture-MS), BRD3 (Affinity Capture-MS), RB1CC1 (Affinity Capture-MS)

ESM2 similar proteins: A0P8Z5, B0KYV5, B1WC58, B2RYR0, F1LR10, F6SNN2, O75128, O75410, P51826, P61590, P61591, P61592, P61593, P61594, Q3USH1, Q501R9, Q5IFK1, Q5PQK4, Q5R8C5, Q5SU73, Q5SWA1, Q5U5Q9, Q6NZF1, Q6P1D7, Q6P7W0, Q6PJW8, Q6Y685, Q6ZSG2, Q6ZVT6, Q7TT79, Q80XI1, Q80XJ2, Q80YR6, Q86T90, Q8BFU3, Q8C9B9, Q8IY92, Q8IYW5, Q8ND24, Q8NEM0

Diamond homologs: O75410, O95359, Q6Y685, Q9JJ11, Q9JJG0, Q9PTG8, Q9Y6A5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AURKC	“up-regulates activity”	TACC1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	6	39.9×	2e-06
SHC1 events in ERBB2 signaling	5	30.5×	3e-05
Signaling by ERBB2 TMD/JMD mutants	5	30.5×	3e-05
Signaling by ERBB2 KD Mutants	5	27.1×	4e-05
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	6	25.8×	1e-05
Maturation of spike protein	7	23.8×	3e-06
Maturation of DENV proteins	7	19.0×	1e-05
Regulation of RAS by GAPs	5	12.4×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
obsolete protein N-linked glycosylation via asparagine	5	35.5×	8e-05
cell surface receptor protein tyrosine kinase signaling pathway	10	18.3×	1e-07
mitotic spindle organization	6	17.2×	2e-04
protein N-linked glycosylation	6	16.6×	2e-04
insulin receptor signaling pathway	5	11.7×	5e-03
memory	6	11.6×	1e-03
phosphatidylinositol 3-kinase/protein kinase B signal transduction	5	11.1×	5e-03
protein autophosphorylation	7	10.7×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2309 predictions. Top by Δscore:

Variant	Effect	Δscore
8:38788698:T:TA	acceptor_gain	1.0000
8:38788699:GGCA:G	acceptor_loss	1.0000
8:38788701:CA:C	acceptor_loss	1.0000
8:38788702:A:AG	acceptor_gain	1.0000
8:38788702:AGC:A	acceptor_loss	1.0000
8:38788702:AGCTC:A	acceptor_gain	1.0000
8:38788703:G:GT	acceptor_gain	1.0000
8:38788703:GC:G	acceptor_gain	1.0000
8:38788703:GCT:G	acceptor_gain	1.0000
8:38788703:GCTC:G	acceptor_gain	1.0000
8:38788703:GCTCG:G	acceptor_gain	1.0000
8:38788816:CAAGG:C	donor_loss	1.0000
8:38788818:AGGT:A	donor_loss	1.0000
8:38788820:G:C	donor_loss	1.0000
8:38788820:G:GG	donor_gain	1.0000
8:38819520:A:AG	acceptor_gain	1.0000
8:38819521:G:GG	acceptor_gain	1.0000
8:38825302:TTCCA:T	acceptor_loss	1.0000
8:38825303:TCCA:T	acceptor_loss	1.0000
8:38825304:CCAG:C	acceptor_loss	1.0000
8:38825305:CA:C	acceptor_loss	1.0000
8:38825306:A:AG	acceptor_gain	1.0000
8:38825306:AGG:A	acceptor_loss	1.0000
8:38825307:G:GG	acceptor_gain	1.0000
8:38825307:GGA:G	acceptor_gain	1.0000
8:38825307:GGAGT:G	acceptor_gain	1.0000
8:38825366:CGGG:C	donor_loss	1.0000
8:38825368:GGTG:G	donor_loss	1.0000
8:38825369:GTG:G	donor_loss	1.0000
8:38825370:T:A	donor_loss	1.0000

AlphaMissense

5283 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:38787622:T:A	W14R	1.000
8:38787622:T:C	W14R	1.000
8:38787624:G:C	W14C	1.000
8:38787624:G:T	W14C	1.000
8:38840255:G:C	A650P	1.000
8:38842368:T:C	L681P	1.000
8:38842389:T:C	L688P	1.000
8:38842398:T:C	L691P	1.000
8:38843365:T:C	L733P	1.000
8:38847974:T:C	L790P	1.000
8:38847995:T:C	L797P	1.000
8:38787631:T:A	W17R	0.999
8:38787631:T:C	W17R	0.999
8:38787633:G:C	W17C	0.999
8:38787633:G:T	W17C	0.999
8:38838500:T:A	W624R	0.999
8:38838500:T:C	W624R	0.999
8:38838543:T:C	M638T	0.999
8:38838543:T:G	M638R	0.999
8:38838544:G:A	M638I	0.999
8:38838544:G:C	M638I	0.999
8:38838544:G:T	M638I	0.999
8:38840240:T:C	Y645H	0.999
8:38840244:A:T	E646V	0.999
8:38840262:T:C	M652T	0.999
8:38842335:T:C	L670P	0.999
8:38842355:G:C	A677P	0.999
8:38842359:T:C	L678P	0.999
8:38842361:G:C	A679P	0.999
8:38842373:T:C	S683P	0.999

dbSNP variants (sampled 300 via entrez): RS1000009853 (8:38827535 A>G), RS1000038467 (8:38814995 A>G,T), RS1000074338 (8:38783583 G>T), RS1000101274 (8:38792945 T>G), RS1000105375 (8:38763452 C>T), RS1000125587 (8:38843750 C>T), RS1000138746 (8:38800258 A>G), RS1000158579 (8:38741114 T>C), RS1000176955 (8:38789883 C>T), RS1000206879 (8:38826229 T>C), RS1000241916 (8:38756868 C>G), RS1000256795 (8:38737831 G>A), RS1000326043 (8:38796974 A>AT), RS1000326369 (8:38833681 C>A), RS1000328731 (8:38846906 A>C,T)

Disease associations

OMIM: gene MIM:605301 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004285_8	Midgestational circulating levels of PBDEs	1.000000e-06
GCST006988_100	Blond vs. brown/black hair color	9.000000e-12
GCST008708_2	Chronic mountain sickness	3.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007961	polybrominated biphenyl measurement
EFO:0007962	polybrominated diphenyl ether measurement
EFO:0007964	gestational serum measurement
EFO:0003924	hair color
EFO:0010143	chronic mountain sickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	7
trichostatin A	affects cotreatment, increases expression	4
Estradiol	affects cotreatment, decreases expression, affects expression, increases expression	4
afimoxifene	decreases expression, decreases reaction	3
Benzo(a)pyrene	decreases expression, affects methylation	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Fulvestrant	increases expression	2
Panobinostat	increases expression, affects cotreatment	2
Cisplatin	affects expression, increases expression	2
Lead	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tamoxifen	affects expression, affects cotreatment, decreases expression	2
Cyclosporine	increases expression, decreases expression	2
Raloxifene Hydrochloride	decreases expression, affects expression, affects cotreatment	2
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
torcetrapib	increases expression	1
belinostat	increases expression	1
abrine	decreases 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_B3IX	Abcam HEK293T TACC1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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