TACC1

Chr 8

transforming acidic coiled-coil containing protein 1

Also known as: Ga55

NCBI Gene: 6867 ENSG00000147526 UniProt: O75410 OMIM: 605301

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.59

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.59LOEUF

pLI 0.000

Z-score 3.51

OE 0.38 (0.25–0.59)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.39Z-score

OE missense 0.95 (0.87–1.03)

404 obs / 426.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.38 (0.25–0.59)

0≤0.351.4

Missense OE?0.95 (0.87–1.03)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 14 / 37.1Missense obs/exp: 404 / 426.6Syn Z: -0.84

Background carrier burden — how many people carry a rare variant somewhere in TACC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

1,050 rare PASS variants

Rare truncating (LoF)

1 in 1,200

159 rare PASS variants

Rare synonymous (reference)

1 in 110

429 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TACC1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 91	1 in 1,200
South Asian	~43k	1 in 54	1 in 790
Remaining (unassigned)	~30k	1 in 43	1 in 2,600
European (Finnish)	~27k	1 in 200	1 in 1,200
Admixed American	~22k	1 in 58	1 in 790
African / African American	~21k	1 in 57	1 in 1,400
East Asian	~20k	1 in 63	1 in 1,100
Ashkenazi Jewish	~13k	1 in 320	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 46	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 13 coding exons well covered in gnomAD exomes and genomes.? see exons ↓