Description
coiled-coil domain containing 40 [Source:HGNC Symbol;Acc:HGNC:26090]
Gene Synonyms
CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640
Location
Chromosome 17: 80,036,632-80,100,613 forward strand.
GRCh38:CM000679.2
About this gene
This gene has 16 transcripts (splice variants), 273 orthologues and is associated with 3 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| CCDC40-204 | ENST00000397545.9 | 4288 | 1142aa | ENSP00000380679.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42395 | Q4G0X9-1 | NM_017950.4 | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS P4: Where the APPRIS core modules are unable to choose a clear principal CDS and there is more than one variant with a distinct (but consecutive) CCDS identifiers, APPRIS selects the longest CCDS isoform as the principal variant.</p><p>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.</p>APPRIS P4, The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select v0.91, |
| CCDC40-203 | ENST00000374877.7 | 3544 | 1030aa | ENSP00000364011.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58604 | Q4G0X9-2 | - | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species.</p><p>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.</p>APPRIS ALT2, |
| CCDC40-201 | ENST00000269318.9 | 1970 | 579aa | ENSP00000269318.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS82212 | Q4G0X9-4 | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>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.</p>TSL:2, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CCDC40-202 | ENST00000374876.4 | 2010 | 478aa | ENSP00000364010.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | Q4G0X9-5 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| CCDC40-205 | ENST00000571028.1 | 593 | 83aa | ENSP00000461034.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | I3L477 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, |
| CCDC40-211 | ENST00000574099.1 | 537 | 126aa | ENSP00000460002.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | I3L2X6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>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.</p>TSL:4, |
| CCDC40-215 | ENST00000576033.5 | 466 | 99aa | ENSP00000459489.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | I3L292 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>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.</p>TSL:4, |
| CCDC40-209 | ENST00000573474.5 | 554 | 85aa | ENSP00000460432.1 | Nonsense mediated decay | - | I3L3G6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>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.</p>TSL:4, |
| CCDC40-210 | ENST00000573903.1 | 561 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>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.</p>TSL:4, |
| CCDC40-208 | ENST00000572270.1 | 460 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</p><p>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.</p>TSL:4, |
| CCDC40-207 | ENST00000572253.5 | 3962 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>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.</p>TSL:2, |
| CCDC40-212 | ENST00000574799.5 | 3795 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, |
| CCDC40-206 | ENST00000572083.5 | 816 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>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.</p>TSL:2, |
| CCDC40-216 | ENST00000576241.1 | 714 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>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.</p>TSL:2, |
| CCDC40-214 | ENST00000575431.1 | 551 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
| CCDC40-213 | ENST00000574933.1 | 326 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
