Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | BSG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | BSG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
|
|
|
|
|
|
|
|
BSG (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BSG (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bsg (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bsg (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bsg (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BSG (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bsg (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BSG (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BSG (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bsg (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in BSG
143 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 | 5 | 5 | 22 | 6 | 6 | 6 | 6 | 6 | 12 | 8 | 10 | 6 |
Low | ||||||||||||
Below cutoff |
RefSeq Transcripts | XM_022407320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_038429385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038429386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038504911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038504912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038568069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038632177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_533964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000031352 ⟹ ENSCAFP00000029180 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00000082041 ⟹ ENSCAFP00000055305 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845027033 ⟹ ENSCAFP00845021272 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845027055 ⟹ ENSCAFP00845021291 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845027081 ⟹ ENSCAFP00845021311 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845027086 ⟹ ENSCAFP00845021315 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_022407320 ⟹ XP_022263028 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_038429385 ⟹ XP_038285313 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038429386 ⟹ XP_038285314 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038504911 ⟹ XP_038360839 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038504912 ⟹ XP_038360840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038568068 ⟹ XP_038423996 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038568069 ⟹ XP_038423997 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038632176 ⟹ XP_038488104 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038632177 ⟹ XP_038488105 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_533964 ⟹ XP_533964 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
Protein RefSeqs | XP_022263028 | (Get FASTA) | NCBI Sequence Viewer |
XP_038285313 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038285314 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038360839 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038360840 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038423996 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038423997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488104 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038488105 | (Get FASTA) | NCBI Sequence Viewer | |
XP_533964 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000029180.4 | ||
ENSCAFP00000055305.1 | |||
ENSCAFP00000068813.1 | |||
ENSCAFP00000074048.1 | |||
ENSCAFP00030033141.1 | |||
ENSCAFP00040018444.1 | |||
ENSCAFP00845021272.1 | |||
ENSCAFP00845021291 | |||
ENSCAFP00845021291.1 | |||
ENSCAFP00845021311 | |||
ENSCAFP00845021311.1 | |||
ENSCAFP00845021315.1 |
RefSeq Acc Id: | XP_533964 ⟸ XM_533964 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NZ06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022263028 ⟸ XM_022407320 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0YVS3 (UniProtKB/TrEMBL), A0A8I3NKF4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000029180 ⟸ ENSCAFT00000031352 |
RefSeq Acc Id: | ENSCAFP00000055305 ⟸ ENSCAFT00000082041 |
RefSeq Acc Id: | XP_038360840 ⟸ XM_038504912 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038360839 ⟸ XM_038504911 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038488105 ⟸ XM_038632177 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038488104 ⟸ XM_038632176 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038285314 ⟸ XM_038429386 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NZ06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038285313 ⟸ XM_038429385 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0YVS3 (UniProtKB/TrEMBL), A0A8I3NKF4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038423997 ⟸ XM_038568069 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0NZ06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038423996 ⟸ XM_038568068 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0YVS3 (UniProtKB/TrEMBL), A0A8I3NKF4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845021272 ⟸ ENSCAFT00845027033 |
RefSeq Acc Id: | ENSCAFP00845021315 ⟸ ENSCAFT00845027086 |
RefSeq Acc Id: | ENSCAFP00845021291 ⟸ ENSCAFT00845027055 |
RefSeq Acc Id: | ENSCAFP00845021311 ⟸ ENSCAFT00845027081 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000019717 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030020680 | UniProtKB/TrEMBL | |
ENSCAFG00040011505 | UniProtKB/TrEMBL | |
ENSCAFG00845015138 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000031352.5 | UniProtKB/TrEMBL |
ENSCAFT00000082041.2 | UniProtKB/TrEMBL | |
ENSCAFT00000100936.1 | UniProtKB/TrEMBL | |
ENSCAFT00000105467.1 | UniProtKB/TrEMBL | |
ENSCAFT00030037986.1 | UniProtKB/TrEMBL | |
ENSCAFT00040021242.1 | UniProtKB/TrEMBL | |
ENSCAFT00845027033.1 | UniProtKB/TrEMBL | |
ENSCAFT00845027055 | ENTREZGENE | |
ENSCAFT00845027055.1 | UniProtKB/TrEMBL | |
ENSCAFT00845027081 | ENTREZGENE | |
ENSCAFT00845027081.1 | UniProtKB/TrEMBL | |
ENSCAFT00845027086.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/TrEMBL |
InterPro | Ig-like_dom | UniProtKB/TrEMBL |
Ig-like_dom_sf | UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/TrEMBL | |
NCBI Gene | BSG | ENTREZGENE |
PANTHER | IMMUNOGLOBULIN-LIKE CELL ADHESION MOLECULE FAMILY | UniProtKB/TrEMBL |
NEPHRIN | UniProtKB/TrEMBL | |
Pfam | Ig_3 | UniProtKB/TrEMBL |
PRINTS | BASIGIN | UniProtKB/TrEMBL |
PROSITE | IG_LIKE | UniProtKB/TrEMBL |
SMART | SM00409 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48726 | UniProtKB/TrEMBL |
UniProt | A0A8C0NZ06 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8C0YVS3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NKF4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NZI7_CANLF | UniProtKB/TrEMBL | |
A0A8I3P0G0_CANLF | UniProtKB/TrEMBL | |
A0A8I3P4K7_CANLF | UniProtKB/TrEMBL | |
A0A8P0NKK2_CANLF | UniProtKB/TrEMBL | |
A0A8P0PI77_CANLF | UniProtKB/TrEMBL | |
A0A8P0PQH6_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:54577 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-05-01 | BSG | basigin | basigin (Ok blood group) | Symbol and/or name change | 5135510 | APPROVED |