GSE1

protein-coding

Gse1 coiled-coil protein

Gene summary

This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]

Previous symbols:

KIAA0182

MANE transcript

NM_014615.5

Inheritance

—

ClinVar variants

U:404B:30

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.04

Max pathogenic AF

—

Genomic locus

chr16:85,169,525-85,676,204

External References & Databases

Ensembl (ENSG00000131149)

Transcript & Mutation Effects

hg38 • Region Span ~506.7 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 GSE1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 394

not providedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014615.5. 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			6 clinvar	11 clinvar	2 clinvar	19
missense			383 clinvar	16 clinvar	1 clinvar	400
nonsense			4 clinvar			4
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	404	27	3	434

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014615.5	RefSeq	NP_055430.1	16	MANE Select
ENST00000253458.12	Ensembl	ENSP00000253458.6	16	MANE Select
NM_001134473.3	RefSeq	NP_001127945.1	14	Standard
NM_001278184.3	RefSeq	NP_001265113.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000253458
Coding exons: 16
Length: 64796
Individuals with no LoFs: 125675
Homozygous LoFs: 2
Heterozygous LoFs: 63
Defined: 125740
p: 0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.31	1081	815	1.33	0.0000584	7771
Missense (PolyPhen)		325	248.32	1.3088		2429
Synonymous	-8.42	562	359	1.56	0.0000267	2569
Loss of Function	6.23	2	49.2	0.0407	0.00000254	560

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0063	0.0031	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000086	0.000053	rare
South Asian	0.000067	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.108

Intolerance Scores

RVIS EVS: -2.81
RVIS percentile EVS: 0.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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