Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BLM | Pig | Bloom syndrome | | ISO | BLM (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BLM | Pig | Bloom syndrome | | ISO | BLM (Homo sapiens) | 7240710 | | OMIM | | |
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BLM (Sus scrofa - pig) |
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BLM (Homo sapiens - human) |
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Blm (Mus musculus - house mouse) |
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Blm (Rattus norvegicus - Norway rat) |
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Blm (Chinchilla lanigera - long-tailed chinchilla) |
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BLM (Pan paniscus - bonobo/pygmy chimpanzee) |
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BLM (Canis lupus familiaris - dog) |
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Blm (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BLM (Chlorocebus sabaeus - green monkey) |
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Blm (Heterocephalus glaber - naked mole-rat) |
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Variants in BLM
1880 total Variants |
alimentary part of gastrointestinal system
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circulatory system
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ectoderm
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endocrine system
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endoderm
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hemolymphoid system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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10 | 4 | 23 | 3 | 2 | 5 | 14 | 12 | 23 | 3 | 6 | 3 |
RefSeq Transcripts | NM_001123084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021097881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021097882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021097883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021097884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021097885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB355635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AEMK02000056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CT757491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01032020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSSSCT00000002034 ⟹ ENSSSCP00000001985 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSSSCT00000002035 ⟹ ENSSSCP00000001986 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSSSCT00000062097 ⟹ ENSSSCP00000044541 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSSSCT00000067673 ⟹ ENSSSCP00000072344 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001123084 ⟹ NP_001116556 | ||||||||
RefSeq Status: | PROVISIONAL | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021097881 ⟹ XP_020953540 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021097882 ⟹ XP_020953541 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021097883 ⟹ XP_020953542 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021097884 ⟹ XP_020953543 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021097885 ⟹ XP_020953544 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001116556 | (Get FASTA) | NCBI Sequence Viewer |
XP_020953540 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020953541 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020953542 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020953543 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020953544 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAG09489 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSSSCP00000001986 | ||
ENSSSCP00000001986.4 | |||
ENSSSCP00015045030.1 | |||
ENSSSCP00025036768.1 | |||
ENSSSCP00035027742.1 | |||
ENSSSCP00045038501.1 | |||
ENSSSCP00070028120.1 | |||
ENSSSCP00070028135.1 | |||
ENSSSCP00070028148.1 | |||
ENSSSCP00070028161.1 | |||
ENSSSCP00070028173.1 |
RefSeq Acc Id: | XP_020953541 ⟸ XM_021097882 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D1L6Q2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020953540 ⟸ XM_021097881 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1RMJ2 (UniProtKB/TrEMBL), A0A8D0Q8M4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020953543 ⟸ XM_021097884 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_020953544 ⟸ XM_021097885 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | NP_001116556 ⟸ NM_001123084 |
- UniProtKB: | B0M1M9 (UniProtKB/TrEMBL), A0A4X1UJ41 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020953542 ⟸ XM_021097883 |
- Peptide Label: | isoform X3 |
- Sequence: |
Ensembl Acc Id: | ENSSSCP00000001985 ⟸ ENSSSCT00000002034 |
Ensembl Acc Id: | ENSSSCP00000001986 ⟸ ENSSSCT00000002035 |
Ensembl Acc Id: | ENSSSCP00000044541 ⟸ ENSSSCT00000062097 |
Ensembl Acc Id: | ENSSSCP00000072344 ⟸ ENSSSCT00000067673 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000001816 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00015077734 | UniProtKB/TrEMBL | |
ENSSSCG00025061419 | UniProtKB/TrEMBL | |
ENSSSCG00035051429 | UniProtKB/TrEMBL | |
ENSSSCG00045032309 | UniProtKB/TrEMBL | |
ENSSSCG00070017090 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000002035 | ENTREZGENE |
ENSSSCT00000002035.5 | UniProtKB/TrEMBL | |
ENSSSCT00015106876.1 | UniProtKB/TrEMBL | |
ENSSSCT00025084522.1 | UniProtKB/TrEMBL | |
ENSSSCT00035068511.1 | UniProtKB/TrEMBL | |
ENSSSCT00045055222.1 | UniProtKB/TrEMBL | |
ENSSSCT00070033693.1 | UniProtKB/TrEMBL | |
ENSSSCT00070033708.1 | UniProtKB/TrEMBL | |
ENSSSCT00070033722.1 | UniProtKB/TrEMBL | |
ENSSSCT00070033737.1 | UniProtKB/TrEMBL | |
ENSSSCT00070033748.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/TrEMBL |
1.10.150.80 | UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/TrEMBL | |
InterPro | BDHCT | UniProtKB/TrEMBL |
BDHCT_assoc | UniProtKB/TrEMBL | |
BLM_N | UniProtKB/TrEMBL | |
DEAD/DEAH_box_helicase_dom | UniProtKB/TrEMBL | |
DNA/RNA_helicase_DEAH_CS | UniProtKB/TrEMBL | |
DNA_helicase_ATP-dep_RecQ | UniProtKB/TrEMBL | |
Helicase_ATP-bd | UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/TrEMBL | |
HRDC-like_sf | UniProtKB/TrEMBL | |
HRDC_dom | UniProtKB/TrEMBL | |
HRDC_dom_sf | UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/TrEMBL | |
RecQ_Zn-bd | UniProtKB/TrEMBL | |
RQC_domain | UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/TrEMBL | |
KEGG Report | ssc:100141304 | UniProtKB/TrEMBL |
NCBI Gene | BLM | ENTREZGENE |
PANTHER | BLOOM SYNDROME PROTEIN | UniProtKB/TrEMBL |
DNA HELICASE RECQ FAMILY MEMBER | UniProtKB/TrEMBL | |
Pfam | BDHCT | UniProtKB/TrEMBL |
BDHCT_assoc | UniProtKB/TrEMBL | |
BLM_N | UniProtKB/TrEMBL | |
DEAD | UniProtKB/TrEMBL | |
Helicase_C | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
RecQ_Zn_bind | UniProtKB/TrEMBL | |
RQC | UniProtKB/TrEMBL | |
PROSITE | DEAH_ATP_HELICASE | UniProtKB/TrEMBL |
HELICASE_ATP_BIND_1 | UniProtKB/TrEMBL | |
HELICASE_CTER | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
SMART | DEXDc | UniProtKB/TrEMBL |
HELICc | UniProtKB/TrEMBL | |
HRDC | UniProtKB/TrEMBL | |
RQC | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF46785 | UniProtKB/TrEMBL |
SSF47819 | UniProtKB/TrEMBL | |
SSF52540 | UniProtKB/TrEMBL | |
UniProt | A0A4X1UDS4_PIG | UniProtKB/TrEMBL |
A0A4X1UIM9_PIG | UniProtKB/TrEMBL | |
A0A4X1UJ41 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1UJ66_PIG | UniProtKB/TrEMBL | |
A0A4X1UJ85_PIG | UniProtKB/TrEMBL | |
A0A8D0Q8M4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1L6Q2 | ENTREZGENE, UniProtKB/TrEMBL | |
B0M1M9 | ENTREZGENE, UniProtKB/TrEMBL | |
F1RMJ2 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:96569 | ENTREZGENE |