TACC1

transforming acidic coiled-coil containing protein 1, the group of TACC family

Basic information

Region (hg38): 8:38728185-38853028

Links

ENSG00000147526 ∙ NCBI:6867 ∙ OMIM:605301 ∙ HGNC:11522 ∙ Uniprot:O75410 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TACC1 gene.

• Inborn genetic diseases (37 variants)
• not provided (2 variants)
• Seizure (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACC1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			34	2	1	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	36	2	2

Variants in TACC1

This is a list of pathogenic ClinVar variants found in the TACC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-38787665-G-T		not specified	Uncertain significance (Sep 13, 2023)
8-38787667-G-C		not specified	Uncertain significance (Jan 03, 2024)
8-38787709-G-T		not specified	Uncertain significance (Dec 03, 2021)
8-38787721-G-A		not specified	Uncertain significance (Feb 07, 2023)
8-38787728-A-C		not specified	Uncertain significance (Jun 12, 2023)
8-38788733-C-A		not specified	Uncertain significance (Jun 11, 2021)
8-38788748-C-T		not specified	Uncertain significance (Aug 01, 2022)
8-38788754-G-A		not specified	Likely benign (Jun 16, 2023)
8-38788780-C-G		not specified	Uncertain significance (Jun 30, 2023)
8-38788801-C-T		not specified	Likely benign (Dec 20, 2021)
8-38788817-A-G		not specified	Uncertain significance (Jan 03, 2024)
8-38819564-A-C		not specified	Uncertain significance (Jan 24, 2024)
8-38819724-G-A			Benign (Jul 06, 2018)
8-38819732-C-T		not specified	Uncertain significance (Dec 14, 2023)
8-38819743-G-A		not specified	Uncertain significance (Jan 23, 2023)
8-38819831-T-C		not specified	Uncertain significance (Dec 14, 2023)
8-38819879-A-G		not specified	Uncertain significance (Jul 26, 2021)
8-38819893-A-G		not specified	Uncertain significance (Mar 22, 2023)
8-38819925-A-C		not specified	Uncertain significance (Aug 28, 2023)
8-38819948-C-T		not specified	Uncertain significance (Aug 04, 2023)
8-38820031-T-C		not specified	Uncertain significance (Oct 18, 2021)
8-38820061-G-A		not specified	Uncertain significance (Dec 27, 2023)
8-38820152-A-G		not specified	Uncertain significance (Nov 14, 2023)
8-38820154-G-A		not specified	Uncertain significance (Feb 10, 2022)
8-38820181-T-C		not specified	Uncertain significance (May 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TACC1	protein_coding	protein_coding	ENST00000317827	13	124843

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000549	1.00	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.388	404	427	0.947	0.0000222	5262
Missense in Polyphen		62	98.897	0.62691		1283
Synonymous	-0.842	187	173	1.08	0.0000105	1565
Loss of Function	3.51	14	37.1	0.378	0.00000192	463

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000274	0.000271
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000221	0.000217
Finnish	0.000323	0.000323
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.000221	0.000217
South Asian	0.0000668	0.0000653
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Likely involved in the processes that promote cell division prior to the formation of differentiated tissues.
• Pathway: Aurora A signaling;Aurora B signaling (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.755
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.71

Haploinsufficiency Scores

• pHI: 0.182
• hipred: Y
• hipred_score: 0.666
• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.778

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tacc1

Gene ontology

• Biological process: microtubule cytoskeleton organization;mitotic spindle organization;cell population proliferation;cerebral cortex development;cell division
• Cellular component: nucleus;cytoplasm;microtubule organizing center;membrane;midbody
• Molecular function: protein binding