Description
split hand/foot malformation (ectrodactyly) type 1
Synonyms
SHSF1, Shfdg1, SEM1, ECD, DSS1
Location
Chromosome 7: 96,481,626-96,709,891 reverse strand.
VEGA68:CM000669.2
About this gene
This gene has 22 transcripts (splice variants) and 1 orthologue.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| SHFM1-003 | OTTHUMT00000319595.2 | 1314 | 70aa | OTTHUMP00000198236 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS5646 | P60896 | |
| SHFM1-007 | OTTHUMT00000319599.3 | 1590 | 62aa | OTTHUMP00000198240 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F2Z2L7 | |
| SHFM1-005 | OTTHUMT00000319597.3 | 775 | 30aa | OTTHUMP00000274602 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A087WUG5 | |
| SHFM1-022 | OTTHUMT00000479066.1 | 729 | 120aa | OTTHUMP00000277835 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A096LP28 | |
| SHFM1-006 | OTTHUMT00000319598.1 | 661 | 89aa | OTTHUMP00000198239 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F2Z309 | |
| SHFM1-021 | OTTHUMT00000479067.1 | 582 | 57aa | OTTHUMP00000277836 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A096LP17 | |
| SHFM1-008 | OTTHUMT00000319600.1 | 350 | 65aa | OTTHUMP00000198241 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F2Z2N6 | |
| SHFM1-004 | OTTHUMT00000319596.1 | 699 | 89aa | OTTHUMP00000198237 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | F2Z309 | |
| SHFM1-011 | OTTHUMT00000473506.1 | 610 | 66aa | OTTHUMP00000274601 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | A0A087WYU0 | |
| SHFM1-020 | OTTHUMT00000473507.1 | 591 | 58aa | OTTHUMP00000274603 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | A0A087X261 | |
| SHFM1-014 | OTTHUMT00000473504.1 | 544 | 89aa | OTTHUMP00000274599 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | A0A087X1V0 | |
| SHFM1-002 | OTTHUMT00000319594.3 | 507 | 61aa | OTTHUMP00000274598 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | A0A087WXB9 | |
| SHFM1-013 | OTTHUMT00000473505.1 | 462 | 61aa | OTTHUMP00000274600 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | A0A087WXB9 | |
| SHFM1-001 | OTTHUMT00000319591.2 | 2707 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-015 | OTTHUMT00000471022.2 | 1577 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-017 | OTTHUMT00000473527.1 | 885 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-012 | OTTHUMT00000473503.1 | 577 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-019 | OTTHUMT00000473526.1 | 575 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-016 | OTTHUMT00000473529.1 | 549 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-018 | OTTHUMT00000473528.1 | 528 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-009 | OTTHUMT00000334327.1 | 427 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| SHFM1-010 | OTTHUMT00000334328.1 | 2773 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
