ZCRB1

Chr 12

zinc finger CCHC-type and RNA binding motif containing 1

Also known as: MADP-1, MADP1, RBM36, SNRNP31, ZCCHC19

Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.91
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.91LOEUF
pLI 0.004
Z-score 1.81
OE 0.46 (0.250.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.96Z-score
OE missense 0.74 (0.620.89)
82 obs / 110.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.250.91)
00.351.4
Missense OE?0.74 (0.620.89)
00.61.4
Synonymous OE?1.23
01.21.6
LoF obs/exp: 6 / 13.0Missense obs/exp: 82 / 110.4Syn Z: -1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZCRB1 · 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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