microcephaly, primary autosomal recessive 1 [Source:MGI Symbol;Acc:MGI:2443308]
5430437K10Rik, BRIT1, D030046N04Rik
Chromosome 8: 18,645,147-18,853,205 forward strand.
GRCm39:CM001001.3
This gene has 6 transcripts (splice variants), 205 orthologues and is associated with 66 phenotypes.
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | Flags |
|---|---|---|---|---|---|---|---|---|
| ENSMUST00000039412.15 | Mcph1-201 | 4662 | 822aa | ENSMUSP00000037000.9 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS22124 | Q7TT79 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,TSL 1: A transcript where all splice junctions 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, based on the type and quality of the alignments used to annotate the transcript. TSL:1, |
| ENSMUST00000146819.8 | Mcph1-205 | 2067 | 600aa | ENSMUSP00000131616.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PX19 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 1: A transcript where all splice junctions 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, based on the type and quality of the alignments used to annotate the transcript. TSL:1, | |
| ENSMUST00000133417.2 | Mcph1-203 | 768 | 256aa | ENSMUSP00000121636.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F6Q8J5 | TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3, 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENSMUST00000141244.3 | Mcph1-204 | 681 | 112aa | ENSMUSP00000119267.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F6QJ89 | TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3, 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENSMUST00000124910.8 | Mcph1-202 | 3878 | 133aa | ENSMUSP00000131698.2 | Nonsense mediated decay | G3UWE9 | TSL 1: A transcript where all splice junctions 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, based on the type and quality of the alignments used to annotate the transcript. TSL:1, | |
| ENSMUST00000153133.2 | Mcph1-206 | 2998 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | TSL 1: A transcript where all splice junctions 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, based on the type and quality of the alignments used to annotate the transcript. TSL:1, |
