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Genome build
GRCh38 / hg38
Ensembl gene ID
ENSG00000129355.7
MANE Select transcript
ENST00000393599.3 / NM_001800.4
Ensembl canonical transcript
ENST00000393599.3
Other transcripts
External resources
Ensembl, UCSC Browser,
Constraint
Variant co-occurrence
CategoryExpected SNVsObserved SNVsConstraint metrics
Synonymous81.780Z = 0.1
o/e = 0.98 (0.82 - 1.18)
01
Missense194167Z = 0.71
o/e = 0.86 (0.76 - 0.98)
01
pLoF4.32pLI = 0.24
o/e = 0.47 (0.19 - 1.43)
01

Constraint metrics based on MANE Select transcript (ENST00000393599.3).

Viewing full gene.
Include:
Negative strand
Mean pext
10