Description

microphthalmia-associated transcription factor [Source:HGNC Symbol;Acc:HGNC:7105]

Synonyms

bHLHe32, MI, WS2, WS2A

Location
INSDC coordinates

chromosome:GRCh38:CM000665.2:69739435:69968337:1

About this gene

This gene has 17 transcripts (splice variants), 75 orthologues, 3 paralogues, is a member of 2 Ensembl protein families and is associated with 13 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MITF-001ENST000003522414814520aaENSP00000295600
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43106O75030 NM_198159
NP_937802
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.

MITF-014ENST000004724371995468aaENSP00000418845
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS54607O75030 NM_001184967
NP_001171896
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 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.

MITF-015ENST000003145891993504aaENSP00000324443
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS46865O75030 NM_198177
NP_937820
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).
MITF-004ENST000003943511956419aaENSP00000377880
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS2913O75030 NM_000248
NP_000239
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 P3

PRINCIPAL3 - APPRIS candidate principal isoform (earliest CCDS).

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

MITF-005ENST000003145571798413aaENSP00000324246
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43107O75030 NM_198158
NP_937801
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.

MITF-016ENST000005317741074357aaENSP00000435909
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS46866O75030 NM_198178
NP_937821
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).
MITF-006ENST00000394348106991aaENSP00000481286
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS74962A0A087WXU1 NM_001184968
NP_001171897
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).
MITF-201ENST000003285284680519aaENSP00000327867
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-O75030 NM_006722
NP_006713
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).
MITF-007ENST000004482262489526aaENSP00000391803
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-O75030 -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 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.

MITF-003ENST000004517081116361aaENSP00000398639
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JBI8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

MITF-009ENST00000433517589157aaENSP00000411389
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9J845 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

MITF-012ENST0000042909054271aaENSP00000407620
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9K0S7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

MITF-002ENST00000457080382117aaENSP00000391276
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q8WYR3 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

MITF-008ENST000004784901642105aaENSP00000433487
 
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.
-E9PKJ8 -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.

MITF-013ENST00000461014752No 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.

MITF-011ENST00000461511574No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:4

Transcript Support Level 4, for transcripts supported by an EST 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.

MITF-010ENST00000495741473No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:4

Transcript Support Level 4, for transcripts supported by an EST 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.

Gene-based displays