Description

hydrolethalus syndrome 1 [Source:HGNC Symbol;Acc:HGNC:26558]

Synonyms

FLJ32915

INSDC coordinates

chromosome:GRCh38:CM000673.2:125883614:125900648:1

About this gene

This gene has 3 transcripts (splice variants), 55 orthologues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HYLS1-002ENST000004253802061299aaENSP00000414884
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8467A0A024R3K0 Q96M11 NM_001134793
NP_001128265
TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

HYLS1-001ENST000003564381810299aaENSP00000348815
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8467A0A024R3K0 Q96M11 NM_145014
NP_659451
TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

HYLS1-003ENST000005260281803299aaENSP00000436833
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8467A0A024R3K0 Q96M11 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

Gene-based displays