Description

ATP-binding cassette, sub-family C (CFTR/MRP), member 6 [Source:HGNC Symbol;Acc:HGNC:57]

Synonyms

ARA, EST349056, MLP1, MRP6, PXE, URG7

Location
INSDC coordinates

chromosome:GRCh38:CM000678.2:16148928:16223522:1

About this gene

This gene has 8 transcripts (splice variants), 73 orthologues, 9 paralogues, is a member of 3 Ensembl protein families and is associated with 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
ABCC6-001ENST0000020555757471503aaENSP00000205557
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS10568O95255 NM_001171
NP_001162
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.

ABCC6-006ENST0000057572871499aaENSP00000461686
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS58430O95255 NM_001079528
NP_001072996
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).
ABCC6-201ENST000006222904941871aaENSP00000483331
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-O95255 -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).
ABCC6-003ENST000004569704137871aaENSP00000405002
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-O95255 -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.

ABCC6-007ENST00000577103138182aaENSP00000459243
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-I3L1Z6 -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.

ABCC6-002ENST000005740942260No 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.

ABCC6-004ENST000005762041914No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---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.

ABCC6-008ENST00000576683476No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---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.

Gene-based displays