Description
Fanconi anemia, complementation group A [Source:HGNC Symbol;Acc:3582]
Gene Synonyms
FA, FA-H, FA1, FAA, FACA, FAH, FANCH
Location
Chromosome 16: 89,803,957-89,883,065 reverse strand.
GRCh37:CM000678.1
About this gene
This gene has 32 transcripts (splice variants), 175 orthologues and is associated with 76 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000389301.3 | FANCA-001 | 5451 | 1455aa | ENSP00000373952.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32515 | H3BT53 O15360 | NM_000135.2 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000568369.1 | FANCA-002 | 4601 | 1424aa | ENSP00000456829.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS67099 | H3BSR5 H3BT53 | NM_001286167.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000563673.1 | FANCA-006 | 1694 | 316aa | ENSP00000456443.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRX3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000389302.3 | FANCA-003 | 1641 | 297aa | ENSP00000373953.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42221 | O15360 | NM_001018112.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000534992.1 | FANCA-201 | 1088 | 302aa | ENSP00000443675.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H8D5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000543736.1 | FANCA-004 | 1000 | 265aa | ENSP00000443409.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q0VAP4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000564475.1 | FANCA-028 | 732 | 240aa | ENSP00000454977.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567879.1 | FANCA-026 | 713 | 214aa | ENSP00000457006.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BT40 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561722.1 | FANCA-027 | 696 | 195aa | ENSP00000456608.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BSA3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000564870.1 | FANCA-030 | 460 | 153aa | ENSP00000456481.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000567988.1 | FANCA-021 | 915 | 109aa | ENSP00000454217.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567943.1 | FANCA-010 | 860 | 158aa | ENSP00000455941.1 | Nonsense mediated decay | H3BQU1 | - | - | |
| ENST00000565582.1 | FANCA-012 | 812 | 210aa | ENSP00000456722.1 | Nonsense mediated decay | H3BSI9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561660.1 | FANCA-022 | 762 | 182aa | ENSP00000456588.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568626.1 | FANCA-023 | 727 | 168aa | ENSP00000455974.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000563510.1 | FANCA-019 | 633 | 51aa | ENSP00000456993.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567621.1 | FANCA-013 | 618 | 125aa | ENSP00000456762.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000563318.1 | FANCA-020 | 605 | 77aa | ENSP00000457970.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000563513.1 | FANCA-011 | 571 | 114aa | ENSP00000455946.1 | Nonsense mediated decay | H3BQU6 | - | - | |
| ENST00000567510.1 | FANCA-016 | 461 | 101aa | ENSP00000455969.1 | Nonsense mediated decay | H3BQW7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567205.1 | FANCA-008 | 413 | 63aa | ENSP00000457027.1 | Nonsense mediated decay | H3BT53 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000566409.1 | FANCA-007 | 395 | 41aa | ENSP00000457647.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000567284.2 | FANCA-031 | 479 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000566889.1 | FANCA-005 | 2201 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000305699.11 | FANCA-009 | 1430 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564969.1 | FANCA-024 | 850 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566133.1 | FANCA-014 | 761 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562424.1 | FANCA-029 | 745 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568983.1 | FANCA-025 | 726 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000567883.1 | FANCA-032 | 650 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000563767.1 | FANCA-017 | 578 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561667.1 | FANCA-018 | 528 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
