Description

helt bHLH transcription factor [Source:HGNC Symbol;Acc:HGNC:33783]

Synonyms

bHLHb44, HCM1228, HESL, MEGANE, Mgn

INSDC coordinates

chromosome:GRCh38:CM000666.2:185018841:185020804:1

About this gene

This gene has 4 transcripts (splice variants), 53 orthologues, 3 paralogues, is a member of 1 Ensembl protein family and is associated with 50 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HELT-001ENST00000505610846241aaENSP00000422140
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS75215A6NFD8 NM_001300782
NP_001287711
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1

ALTERNATIVE1 - APPRIS candidate principal isoform that is conserved in at least three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

HELT-002ENST00000515777841242aaENSP00000426033
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS75214A6NFD8 NM_001300781
NP_001287710
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P4

PRINCIPAL4 - APPRIS candidate principal isoform (longest CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

HELT-201ENST000003388751008327aaENSP00000343464
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087WSW0 NM_001029887
NP_001025058
TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT2

ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

HELT-003ENST000005135991099No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays