Table 3.
Alternative splicing in 50 commonly accessed genes
| Gene symbol | Gene name | Number of splicing variants
|
Conserved transcriptsb | ||
|---|---|---|---|---|---|
| Human
|
Chicken
|
||||
| GeneCardsa | Ensembl | Ensemblb | |||
| BRCA1 | breast cancer 1, early onset | 9 | 8 | 1 | 0/1 |
| TP53 | tumor protein p53 (Li-Fraumeni syndrome) | 4 | 2 | NA | NA |
| ALDH2 | aldehyde dehydrogenase 2 family (mitochondrial) | 4 | 1 | 1 | 0/1 |
| COL2A1 | collagen, type II, alpha 1 | 6 | 4 | 1 | 0/1 |
| CFTR | cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) | 1 | 1 | 4 | 0/4 |
| BTK | Bruton agammaglobulinemia tyrosine kinase | 6 | 7 | 2 | 0/2 |
| A2M | alpha-2-macroglobulin | 1 | 1 | NA | NA |
| BRCA2 | breast cancer 2, early onset | 1 | 2 | 1 | 0/1 |
| ASS | argininosuccinate synthetase | 11 | 10 | NA | NA |
| EGFR | epidermal growth factor receptor | 1 | 3 | 3 | 0/3 |
| IGF1 | insulin-like growth factor 1 | 1 | 2 | 1 | 1/1 |
| BCL2 | B-cell CLL/lymphoma 2 | 2 | 1 | 1 | 1/1 |
| APP | amyloid beta (A4) precursor protein | 1 | 7 | 1 | 1/1 |
| APOE | apolipoprotein E | 4 | 1 | NA | NA |
| ATM | ataxia telangiectasia mutated | 1 | 2 | 1 | 0/1 |
| HEXA | hexosaminidase A | 11 | 3 | 1 | 1/1 |
| AKT1 | v-akt murine thymoma viral oncogene homolog 1 | 8 | 1 | 1 | 0/1 |
| HBB | hemoglobin, beta | 1 | 5 | 3 | NA |
| RBI | retinoblastoma 1 | 1 | 3 | 2 | 0/2 |
| JAK2 | Janus kinase 2 | 1 | 1 | 1 | 0/1 |
| AR | androgen receptor | 1 | 2 | 1 | 0/1 |
| BAX | BCL2-associated X protein | 3 | 1 | NA | NA |
| JAK3 | Janus kinase 3 | 1 | 4 | NA | NA |
| PTEN | phosphatase and tensin homolog | 1 | 2 | 1 | 1/1 |
| GBA | glucosidase, beta; acid | 10 | 14 (12 without translation) | NA | NA |
| HFE | hemochromatosis | 11 | 9 | 0 | |
| SOD1 | superoxide dismutase 1, soluble | 7 | 1 | 1 | 1/1 |
| CREBBP | CREB binding protein | 1 | 3 | 1 | 0/1 |
| INSR | insulin receptor | 1 | 2 | 1 | 0/1 |
| ACE | angiotensin I converting enzyme | 12 | 2 | 2 | 0/2 |
| ADRB2 | adrenergic, beta-2-, receptor, surface | 1 | 1 | 1 | 1/1 |
| TNF | tumor necrosis factor (TNF superfamily, member 2) | 1 | 4 | NA | NA |
| JUN | v-jun sarcoma virus 17 oncogene homolog (avian) | 1 | 1 | 1 | 0/1 |
| PSAP | prosaposin | 8 | 2 | 2 | 1/2 |
| ATBF1 | AT-binding transcription factor 1 | 1 | 1 | 1 | 0/1 |
| NFKB1 | nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (P105) | 4 | 1 | 1 | 0/1 |
| ACHE | acetylcholinesterase (YT blood group) | 10 | 3 | NA | NA |
| VEGF | vascular endothelial growth factor | 6 | 9 (2 without translation) | 5 | 2/5 |
| APC | adenomatosis polyposis coli | 1 | 1 | 1 | 0/1 |
| ABL1 | v-abl Abelson murine leukemia viral oncogene homolog 1 | 1 | 2 | 1 | 1/1 |
| AHCY | S-adenosylhomocysteine hydrolase | 9 | 2 | 1 | 1/1 |
| ABCB1 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | 3 | 1 | 2 | 0/2 |
| ADRB3 | adrenergic, beta-3-, receptor | 1 | 1 | 1 | 0/1 |
| CASP8 | caspase 8, apoptosis-related cysteine peptidase | 14 | 9 | 1 | 0/1 |
| FGFR3 | fibroblast growth factor receptor 3 | 1 | 5 | 1 | 0/1 |
| MTHFR | 5,10-methylenetetrahydrofolate reductase (NADPH) | 8 | 5 | 1 | 0/1 |
| HEXB | hexosaminidase B (beta polypeptide) | 1 | 2 | 1 | 0/1 |
| DMD | dystrophin (muscular dystrophy, Duchenne and Becker types) | 1 | 19 | 1 | 0/1 |
| PPARG | peroxisome proliferative activated receptor, gamma | 7 | 2 | 1 | 0/1 |
| ARSA | arylsulfalase A | 8 | 2 | 1 | 1/1 |
a
‘Hot genes’ are defined genes that have been most frequently requested at the GeneCards home site (http://www.genecards.org/) since Jan 1, 2006 sorted by frequency of access.
b
‘NA’ denotes information not available.