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) 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000563673.1 | FANCA-006 | 1694 | 316aa | ENSP00000456443.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRX3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000534992.1 | FANCA-201 | 1088 | 302aa | ENSP00000443675.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H8D5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000543736.1 | FANCA-004 | 1000 | 265aa | ENSP00000443409.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q0VAP4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |