GSE1

Chr 16

Gse1 coiled-coil protein

Also known as: CRHSP24, KIAA0182

NCBI Gene: 23199 ENSG00000131149 UniProt: Q14687 OMIM: 616886

This gene encodes a proline-rich protein with coiled coil domains that functions as a subunit of a BRAF35-HDAC histone deacetylase complex involved in chromatin regulation. Mutations cause autosomal dominant developmental and epileptic encephalopathy with severe intellectual disability and seizures beginning in infancy. The gene is highly constrained against loss-of-function variation in the general population.

OMIM ResearchSummary from RefSeq

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.13

Clinical Summary— GSE1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.13LOEUF

pLI 1.000

Z-score 6.23

OE 0.04 (0.02–0.13)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

-3.31Z-score

OE missense 1.33 (1.26–1.39)

1081 obs / 815.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.04 (0.02–0.13)

0≤0.351.4

Missense OE?1.33 (1.26–1.39)

0≤0.61.4

Synonymous OE?1.56

0≤1.21.6

LoF obs/exp: 2 / 49.2Missense obs/exp: 1081 / 815.1Syn Z: -8.42

This gene — mechanism propensity

0.2997th %ile

GOF

0.2298th %ile

LOF

0.86top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.13

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.