SHCBP1L

Chr 1

SHC binding and spindle associated 1 like

Also known as: C1orf14, GE36

This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.05
OE 0.99 (0.721.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.03Z-score
OE missense 1.00 (0.911.09)
350 obs / 351.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.99 (0.721.37)
00.351.4
Missense OE?1.00 (0.911.09)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 26 / 26.3Missense obs/exp: 350 / 351.5Syn Z: 1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SHCBP1L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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