SHCBP1L

Chr 1

SHC binding and spindle associated 1 like

Also known as: C1orf14, GE36

NCBI Gene: 81626 ENSG00000157060 UniProt: Q9BZQ2 OMIM: 619514

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.37

LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.37LOEUF

pLI 0.000

Z-score 0.05

OE 0.99 (0.72–1.37)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.03Z-score

OE missense 1.00 (0.91–1.09)

350 obs / 351.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.99 (0.72–1.37)

0≤0.351.4

Missense OE?1.00 (0.91–1.09)

0≤0.61.4

Synonymous OE?0.83

0≤1.21.6

LoF obs/exp: 26 / 26.3Missense obs/exp: 350 / 351.5Syn Z: 1.49

Background carrier burden — how many people carry a rare variant somewhere in SHCBP1L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 64

886 rare PASS variants

Rare truncating (LoF)

1 in 370

163 rare PASS variants

Rare synonymous (reference)

1 in 290

312 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SHCBP1L. 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 86	1 in 970
South Asian	~43k	1 in 56	1 in 390
Remaining (unassigned)	~30k	1 in 53	1 in 410
European (Finnish)	~27k	1 in 510	1 in 2,800
Admixed American	~22k	1 in 62	1 in 290
African / African American	~21k	1 in 63	1 in 490
East Asian	~20k	1 in 92	1 in 270
Ashkenazi Jewish	~13k	1 in 260	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 61	≈ 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): 8 of 10 coding exons well covered in gnomAD exomes; exons 6, 9 marginal. Genomes: all 10.? see exons ↓