TACC1

protein-coding

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

Gene summary

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. [provided by RefSeq, Jun 2017]

MANE transcript

NM_006283.3

Inheritance

—

ClinVar variants

U:118B:9

Top phenotype

Seizure

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr8:38,728,186-38,853,028

External References & Databases

Ensembl (ENSG00000147526)

Transcript & Mutation Effects

hg38 • Region Span ~124.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TACC1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 119

not providedTotal: 4

SeizureTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006283.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		1 clinvar	2
missense			113 clinvar	8 clinvar		121
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	118	8	1	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 146 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006283.3	RefSeq	NP_006274.2	13	MANE Select
ENST00000317827.9	Ensembl	ENSP00000321703.4	13	MANE Select
NM_001122824.2	RefSeq	NP_001116296.1	11	Standard
NM_001146216.3	RefSeq	NP_001139688.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Aurora A signaling
Aurora B signaling

Biological Process

microtubule cytoskeleton organization
mitotic spindle organization
cell population proliferation
cerebral cortex development
cell division

Molecular Function

protein binding

Cellular Component

nucleus
cytoplasm
microtubule organizing center
membrane
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317827
Coding exons: 13
Length: 124843
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 33
Defined: 125748
p: 0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.388	404	427	0.947	0.0000222	5262
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00022	0.00022	rare
Finnish	0.00032	0.00032	rare
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.000067	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Likely involved in the processes that promote cell division prior to the formation of differentiated tissues.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.755
RVIS EVS: -0.64
RVIS percentile EVS: 16.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.778

Gene Damage Prediction

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