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Table 5 Function of mutation-damaged genes

From: Genome instability in blood cells of a BRCA1 + breast cancer family

Genes

Function

Mutation type

ABLIM2

Actin binding

nonsynonymous SNV

BPTF

Transcriptional regulation

nonsynonymous SNV

CACNB3

Calcium channel

nonsynonymous SNV

CHCHD1

Nuclear protein

nonsynonymous SNV

CLCN4

Chloride channel

nonsynonymous SNV

CUL4B

Polyubiquitination

stop gain

FOXP1

Transcriptional regulation

nonsynonymous SNV

GSTK1

Cellular detoxification

nonsynonymous SNV

ITGA1

Cell-cell adhesion

nonsynonymous SNV

KCTD8

Potassium channel

nonsynonymous SNV

LACRT

Lacrimal gland development

nonsynonymous SNV

LAT

TCR - and pre-TCR-mediated signaling

nonsynonymous SNV

PAMR1

Muscle regeneration

nonsynonymous SNV

PHKG2

Phosphorylase kinase for glycogenesis

nonsynonymous SNV

SEMA3C

Developmental regulation

nonsynonymous SNV

SRA1

Nuclear and non-nuclear receptor Regulation

nonsynonymous SNV

TBC1D22B

Unknown

nonsynonymous SNV

TMPRSS7

Serine protease for peptide hydrolyzes

nonsynonymous SNV

TTN

Structural protein for chromosomes

stop gain

UEVLD

Unknown

nonsynonymous SNV

ZNF24

Transcriptional regulation

nonsynonymous SNV

ZNF304

Transcriptional regulation

nonsynonymous SNV

ZNF674

Transcriptional regulation

nonsynonymous SNV