Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BFSP1 | Dog | cataract 33 | | ISO | BFSP1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BFSP1 | Dog | cataract 33 | | ISO | BFSP1 (Homo sapiens) | 7240710 | | OMIM | | |
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BFSP1 (Canis lupus familiaris - dog) |
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BFSP1 (Homo sapiens - human) |
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Bfsp1 (Mus musculus - house mouse) |
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Bfsp1 (Rattus norvegicus - Norway rat) |
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Bfsp1 (Chinchilla lanigera - long-tailed chinchilla) |
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BFSP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Bfsp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BFSP1 (Sus scrofa - pig) |
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BFSP1 (Chlorocebus sabaeus - green monkey) |
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Bfsp1 (Heterocephalus glaber - naked mole-rat) |
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Variants in BFSP1
670 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 2 | 8 | ||||||||||
Low | 5 | 1 | 17 | 1 | 6 | 1 | 6 | 1 | 10 | 10 | 6 | |
Below cutoff | 4 | 5 | 5 | 5 | 5 |
RefSeq Acc Id: | ENSCAFT00000008843 ⟹ ENSCAFP00000008203 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000047440 ⟹ ENSCAFP00000038706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000090675 ⟹ ENSCAFP00000060948 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845033545 ⟹ ENSCAFP00845026260 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845033634 ⟹ ENSCAFP00845026332 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845033707 ⟹ ENSCAFP00845026387 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005634762 ⟹ XP_005634819 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022409397 ⟹ XP_022265105 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022409400 ⟹ XP_022265108 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038433074 ⟹ XP_038289002 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433075 ⟹ XP_038289003 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433076 ⟹ XP_038289004 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433077 ⟹ XP_038289005 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433078 ⟹ XP_038289006 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433079 ⟹ XP_038289007 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433080 ⟹ XP_038289008 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433081 ⟹ XP_038289009 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433082 ⟹ XP_038289010 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433083 ⟹ XP_038289011 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433084 ⟹ XP_038289012 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433085 ⟹ XP_038289013 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038433086 ⟹ XP_038289014 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457505 ⟹ XP_038313433 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457506 ⟹ XP_038313434 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457507 ⟹ XP_038313435 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457508 ⟹ XP_038313436 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457509 ⟹ XP_038313437 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457510 ⟹ XP_038313438 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457511 ⟹ XP_038313439 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457512 ⟹ XP_038313440 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038457513 ⟹ XP_038313441 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038508287 ⟹ XP_038364215 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571541 ⟹ XP_038427469 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571542 ⟹ XP_038427470 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571543 ⟹ XP_038427471 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571544 ⟹ XP_038427472 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571545 ⟹ XP_038427473 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571546 ⟹ XP_038427474 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571547 ⟹ XP_038427475 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571548 ⟹ XP_038427476 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571549 ⟹ XP_038427477 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571550 ⟹ XP_038427478 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571551 ⟹ XP_038427479 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571552 ⟹ XP_038427480 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038571553 ⟹ XP_038427481 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635784 ⟹ XP_038491712 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635785 ⟹ XP_038491713 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635786 ⟹ XP_038491714 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635787 ⟹ XP_038491715 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635788 ⟹ XP_038491716 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635789 ⟹ XP_038491717 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635790 ⟹ XP_038491718 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635791 ⟹ XP_038491719 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635792 ⟹ XP_038491720 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635793 ⟹ XP_038491721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635794 ⟹ XP_038491722 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635795 ⟹ XP_038491723 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038635796 ⟹ XP_038491724 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_843800 ⟹ XP_848893 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XP_005634819 ⟸ XM_005634762 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_848893 ⟸ XM_843800 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0PHQ1 (UniProtKB/TrEMBL), A0A8I3NXF2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022265105 ⟸ XM_022409397 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022265108 ⟸ XM_022409400 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000038706 ⟸ ENSCAFT00000047440 |
RefSeq Acc Id: | ENSCAFP00000008203 ⟸ ENSCAFT00000008843 |
RefSeq Acc Id: | ENSCAFP00000060948 ⟸ ENSCAFT00000090675 |
RefSeq Acc Id: | XP_038364215 ⟸ XM_038508287 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038491723 ⟸ XM_038635795 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038491718 ⟸ XM_038635790 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038491714 ⟸ XM_038635786 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038491722 ⟸ XM_038635794 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038491721 ⟸ XM_038635793 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038491713 ⟸ XM_038635785 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038491715 ⟸ XM_038635787 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038491719 ⟸ XM_038635791 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038491720 ⟸ XM_038635792 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038491716 ⟸ XM_038635788 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038491724 ⟸ XM_038635796 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038491717 ⟸ XM_038635789 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038491712 ⟸ XM_038635784 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038289013 ⟸ XM_038433085 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289008 ⟸ XM_038433080 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289004 ⟸ XM_038433076 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289012 ⟸ XM_038433084 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038289003 ⟸ XM_038433075 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289011 ⟸ XM_038433083 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289005 ⟸ XM_038433077 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289009 ⟸ XM_038433081 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289010 ⟸ XM_038433082 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289006 ⟸ XM_038433078 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289014 ⟸ XM_038433086 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038289007 ⟸ XM_038433079 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038289002 ⟸ XM_038433074 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0PHQ1 (UniProtKB/TrEMBL), A0A8I3NXF2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313440 ⟸ XM_038457512 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313436 ⟸ XM_038457508 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313439 ⟸ XM_038457511 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038313433 ⟸ XM_038457505 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313438 ⟸ XM_038457510 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313434 ⟸ XM_038457506 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313437 ⟸ XM_038457509 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038313441 ⟸ XM_038457513 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038313435 ⟸ XM_038457507 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427480 ⟸ XM_038571552 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427475 ⟸ XM_038571547 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427471 ⟸ XM_038571543 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427479 ⟸ XM_038571551 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038427470 ⟸ XM_038571542 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427478 ⟸ XM_038571550 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427472 ⟸ XM_038571544 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427476 ⟸ XM_038571548 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427477 ⟸ XM_038571549 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427473 ⟸ XM_038571545 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427481 ⟸ XM_038571553 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038427474 ⟸ XM_038571546 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0LPW2 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038427469 ⟸ XM_038571541 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0PHQ1 (UniProtKB/TrEMBL), A0A8C0Q8E0 (UniProtKB/TrEMBL), A0A8I3NXF2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845026387 ⟸ ENSCAFT00845033707 |
RefSeq Acc Id: | ENSCAFP00845026260 ⟸ ENSCAFT00845033545 |
RefSeq Acc Id: | ENSCAFP00845026332 ⟸ ENSCAFT00845033634 |
RGD ID: | 13687517 | ||||||||
Promoter ID: | EPDNEW_C5585 | ||||||||
Type: | single initiation site | ||||||||
Name: | BFSP1_1 | ||||||||
Description: | beaded filament structural protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000005485 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030025072 | UniProtKB/TrEMBL | |
ENSCAFG00040004817 | UniProtKB/TrEMBL | |
ENSCAFG00845019013 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000008843.5 | UniProtKB/TrEMBL |
ENSCAFT00000047440.4 | UniProtKB/TrEMBL | |
ENSCAFT00000090675.2 | UniProtKB/TrEMBL | |
ENSCAFT00030046258.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009062.1 | UniProtKB/TrEMBL | |
ENSCAFT00845033545.1 | UniProtKB/TrEMBL | |
ENSCAFT00845033634.1 | UniProtKB/TrEMBL | |
ENSCAFT00845033707 | ENTREZGENE | |
ENSCAFT00845033707.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/TrEMBL |
Vasodilator-stimulated phosphoprotein | UniProtKB/TrEMBL | |
InterPro | BFSP1 | UniProtKB/TrEMBL |
IF_rod_dom | UniProtKB/TrEMBL | |
NCBI Gene | BFSP1 | ENTREZGENE |
PANTHER | FILENSIN | UniProtKB/TrEMBL |
PTHR14069 | UniProtKB/TrEMBL | |
Pfam | Filament | UniProtKB/TrEMBL |
PROSITE | IF_ROD_2 | UniProtKB/TrEMBL |
SMART | Filament | UniProtKB/TrEMBL |
Superfamily-SCOP | Intermediate filament protein, coiled coil region | UniProtKB/TrEMBL |
UniProt | A0A8C0LPW2 | ENTREZGENE |
A0A8C0PHQ1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0Q8E0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NXF2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PFS3_CANLF | UniProtKB/TrEMBL | |
A0A8I3S3R4_CANLF | UniProtKB/TrEMBL | |
A0A8P0ST42_CANLF | UniProtKB/TrEMBL | |
A0A8P0TCR1_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:38440 | ENTREZGENE |