Transcript: ENST00000371113.4 OCRL-001

Description

oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]

Gene Synonyms

INPP5F, LOCR, NPHL2, OCRL-1, OCRL1

Location

About this transcript

This transcript has 24 exons, is annotated with 14 domains and features, is associated with 10194 variant alleles and maps to 793 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371113.4	OCRL-001	5162	901aa	ENSP00000360154.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35393	Q01968	NM_000276.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000357121.5	OCRL-002	5138	893aa	ENSP00000349635.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35394	Q01968	NM_001587.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000486673.1	OCRL-003	942	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463271.1	OCRL-005	856	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 24, Coding exons: 24, Transcript length: 5,162 bps, Translation length: 901 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q01968

CCDS

This transcript is a member of the Human CCDS set: CCDS35393

Version

ENST00000371113.4

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000058917 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.