Description

Nance-Horan syndrome (congenital cataracts and dental anomalies) [Source:HGNC Symbol;Acc:HGNC:7820]

Location
INSDC coordinates

chromosome:GRCh38:CM000685.2:17375420:17735994:1

About this gene

This gene has 5 transcripts (splice variants), 74 orthologues, 2 paralogues, is a member of 1 Ensembl protein family and is associated with 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NHS-001ENST0000038006087611630aaENSP00000369400
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14181Q6T4R5 NM_198270
NP_001278796
NP_938011
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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

NHS-003ENST0000039809782131474aaENSP00000381170
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS48087Q6T4R5 NM_001136024
NP_001129496
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).
NHS-201ENST0000061542288601471aaENSP00000480113
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087WWC4 -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).
NHS-202ENST0000061760181631447aaENSP00000478433
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087WU78 NM_001291868
NP_001278797
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).
NHS-002ENST00000485305409No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---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.

Gene-based displays