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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: TULP1 ENSG00000112041

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Description

tubby like protein 1 [Source:HGNC Symbol;Acc:12423]

Gene Synonyms

LCA15, RP14, TUBL1

Location

Chromosome 6: 35,465,651-35,480,715 reverse strand.

GRCh37:CM000668.1

About this gene

This gene has 7 transcripts (splice variants), 5 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000229771.6	TULP1-003	2162	542aa	ENSP00000229771.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4807	O00294 Q0QD38	NM_003322.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000322263.4	TULP1-004	1941	489aa	ENSP00000319414.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O00294 Q0QD38	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000428978.1	TULP1-001	492	161aa	ENSP00000406765.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q0QD38 Q5TGM7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000373892.4	TULP1-002	812	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000495781.1	TULP1-007	582	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000448446.2	TULP1-005	559	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000496434.1	TULP1-006	513	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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