Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | UTRN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | UTRN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | |
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PMID:18458171 | PMID:22301074 | PMID:30032202 | PMID:30404858 | PMID:31591596 | PMID:37756605 |
UTRN (Canis lupus familiaris - dog) |
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UTRN (Homo sapiens - human) |
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Utrn (Mus musculus - house mouse) |
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Utrn (Rattus norvegicus - Norway rat) |
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Utrn (Chinchilla lanigera - long-tailed chinchilla) |
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UTRN (Pan paniscus - bonobo/pygmy chimpanzee) |
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Utrn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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UTRN (Sus scrofa - pig) |
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UTRN (Chlorocebus sabaeus - green monkey) |
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Utrn (Heterocephalus glaber - naked mole-rat) |
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Variants in UTRN
5806 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 | 4 | 5 | 16 | 6 | 6 | 9 | 10 | 6 | ||||
Low | 1 | 6 | 6 | 6 | 6 | 3 | 8 | |||||
Below cutoff |
RefSeq Acc Id: | ENSCAFT00000000501 ⟹ ENSCAFP00000000453 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000044228 ⟹ ENSCAFP00000039395 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000047082 ⟹ ENSCAFP00000038981 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000066270 ⟹ ENSCAFP00000050719 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000075281 ⟹ ENSCAFP00000054808 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000077376 ⟹ ENSCAFP00000050661 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000091864 ⟹ ENSCAFP00000060557 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845023087 ⟹ ENSCAFP00845018101 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845023227 ⟹ ENSCAFP00845018220 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845023283 ⟹ ENSCAFP00845018264 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845023323 ⟹ ENSCAFP00845018299 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001012395 ⟹ NP_001012395 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038653442 ⟹ XP_038509370 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653443 ⟹ XP_038509371 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653444 ⟹ XP_038509372 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653445 ⟹ XP_038509373 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653446 ⟹ XP_038509374 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653447 ⟹ XP_038509375 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653448 ⟹ XP_038509376 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653449 ⟹ XP_038509377 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653450 ⟹ XP_038509378 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653451 ⟹ XP_038509379 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038653452 ⟹ XP_038509380 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_001012395 ⟸ NM_001012395 |
- UniProtKB: | Q5JCF5 (UniProtKB/TrEMBL), A0A8C0PZ46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000050661 ⟸ ENSCAFT00000077376 |
RefSeq Acc Id: | ENSCAFP00000000453 ⟸ ENSCAFT00000000501 |
RefSeq Acc Id: | ENSCAFP00000039395 ⟸ ENSCAFT00000044228 |
RefSeq Acc Id: | ENSCAFP00000050719 ⟸ ENSCAFT00000066270 |
RefSeq Acc Id: | ENSCAFP00000060557 ⟸ ENSCAFT00000091864 |
RefSeq Acc Id: | ENSCAFP00000038981 ⟸ ENSCAFT00000047082 |
RefSeq Acc Id: | ENSCAFP00000054808 ⟸ ENSCAFT00000075281 |
RefSeq Acc Id: | XP_038509377 ⟸ XM_038653449 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8I3NQX0 (UniProtKB/TrEMBL), A0A8P0P0F6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509371 ⟸ XM_038653443 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0QXY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509372 ⟸ XM_038653444 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0QXY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509373 ⟸ XM_038653445 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0QXY2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509375 ⟸ XM_038653447 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0P060 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509374 ⟸ XM_038653446 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0P060 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509376 ⟸ XM_038653448 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8C0P031 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509370 ⟸ XM_038653442 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0P060 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509378 ⟸ XM_038653450 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8C0P031 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509379 ⟸ XM_038653451 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A8C0RPF7 (UniProtKB/TrEMBL), A0A8C0NWS8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038509380 ⟸ XM_038653452 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A8C0PZS7 (UniProtKB/TrEMBL), A0A8I3NDA9 (UniProtKB/TrEMBL), A0A8I3NND2 (UniProtKB/TrEMBL), A0A8P0STF4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845018299 ⟸ ENSCAFT00845023323 |
RefSeq Acc Id: | ENSCAFP00845018101 ⟸ ENSCAFT00845023087 |
RefSeq Acc Id: | ENSCAFP00845018220 ⟸ ENSCAFT00845023227 |
RefSeq Acc Id: | ENSCAFP00845018264 ⟸ ENSCAFT00845023283 |
RGD ID: | 13681991 | ||||||||
Promoter ID: | EPDNEW_C61 | ||||||||
Type: | initiation region | ||||||||
Name: | UTRN_1 | ||||||||
Description: | utrophin | ||||||||
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 | ENSCAFG00000000326 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030018561 | UniProtKB/TrEMBL | |
ENSCAFG00040003801 | UniProtKB/TrEMBL | |
ENSCAFG00845012944 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000000501.6 | UniProtKB/TrEMBL |
ENSCAFT00000047082.3 | UniProtKB/TrEMBL | |
ENSCAFT00000066270.2 | UniProtKB/TrEMBL | |
ENSCAFT00000077376.2 | UniProtKB/TrEMBL | |
ENSCAFT00030036886.1 | UniProtKB/TrEMBL | |
ENSCAFT00030036988.1 | UniProtKB/TrEMBL | |
ENSCAFT00030037164.1 | UniProtKB/TrEMBL | |
ENSCAFT00030037356.1 | UniProtKB/TrEMBL | |
ENSCAFT00030037462.1 | UniProtKB/TrEMBL | |
ENSCAFT00030037653.1 | UniProtKB/TrEMBL | |
ENSCAFT00040007338.1 | UniProtKB/TrEMBL | |
ENSCAFT00040007363.1 | UniProtKB/TrEMBL | |
ENSCAFT00040007406.1 | UniProtKB/TrEMBL | |
ENSCAFT00845023087 | ENTREZGENE | |
ENSCAFT00845023087.1 | UniProtKB/TrEMBL | |
ENSCAFT00845023227.1 | UniProtKB/TrEMBL | |
ENSCAFT00845023283 | ENTREZGENE | |
ENSCAFT00845023283.1 | UniProtKB/TrEMBL | |
ENSCAFT00845023323 | ENTREZGENE | |
ENSCAFT00845023323.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.418.10 | UniProtKB/TrEMBL |
1.20.58.60 | UniProtKB/TrEMBL | |
2.20.70.10 | UniProtKB/TrEMBL | |
3.30.60.90 | UniProtKB/TrEMBL | |
EF-hand | UniProtKB/TrEMBL | |
InterPro | Actinin_actin-bd_CS | UniProtKB/TrEMBL |
CH-domain | UniProtKB/TrEMBL | |
CH_dom_sf | UniProtKB/TrEMBL | |
Dystrophin/utrophin | UniProtKB/TrEMBL | |
EF-hand-dom_pair | UniProtKB/TrEMBL | |
EF-hand_dom_typ1 | UniProtKB/TrEMBL | |
EF-hand_dom_typ2 | UniProtKB/TrEMBL | |
Spectrin/alpha-actinin | UniProtKB/TrEMBL | |
Spectrin_repeat | UniProtKB/TrEMBL | |
WW_dom | UniProtKB/TrEMBL | |
WW_dom_sf | UniProtKB/TrEMBL | |
Znf_ZZ | UniProtKB/TrEMBL | |
Znf_ZZ_sf | UniProtKB/TrEMBL | |
KEGG Report | cfa:442965 | UniProtKB/TrEMBL |
NCBI Gene | UTRN | ENTREZGENE |
PANTHER | E3 UBIQUITIN-PROTEIN LIGASE KCMF1 | UniProtKB/TrEMBL |
UTROPHIN | UniProtKB/TrEMBL | |
Pfam | EF-hand_2 | UniProtKB/TrEMBL |
EF-hand_3 | UniProtKB/TrEMBL | |
PF00307 | UniProtKB/TrEMBL | |
PF00569 | UniProtKB/TrEMBL | |
Spectrin | UniProtKB/TrEMBL | |
PIRSF | Dystrophin/utrophin | UniProtKB/TrEMBL |
PROSITE | ACTININ_1 | UniProtKB/TrEMBL |
ACTININ_2 | UniProtKB/TrEMBL | |
PS50021 | UniProtKB/TrEMBL | |
WW_DOMAIN_1 | UniProtKB/TrEMBL | |
WW_DOMAIN_2 | UniProtKB/TrEMBL | |
ZF_ZZ_1 | UniProtKB/TrEMBL | |
ZF_ZZ_2 | UniProtKB/TrEMBL | |
SMART | SM00033 | UniProtKB/TrEMBL |
SM00456 | UniProtKB/TrEMBL | |
SPEC | UniProtKB/TrEMBL | |
ZnF_ZZ | UniProtKB/TrEMBL | |
Superfamily-SCOP | RING/U-box | UniProtKB/TrEMBL |
Spectrin repeat | UniProtKB/TrEMBL | |
SSF47473 | UniProtKB/TrEMBL | |
SSF47576 | UniProtKB/TrEMBL | |
SSF51045 | UniProtKB/TrEMBL | |
UniProt | A0A8C0NVU2_CANLF | UniProtKB/TrEMBL |
A0A8C0NWS8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0P031 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0P060 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0P3J3_CANLF | UniProtKB/TrEMBL | |
A0A8C0PZ46 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0PZ69_CANLF | UniProtKB/TrEMBL | |
A0A8C0PZS7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0QXY2 | ENTREZGENE | |
A0A8C0RPF7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NDA9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NEM4_CANLF | UniProtKB/TrEMBL | |
A0A8I3NND2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3NQX0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0P0F6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0S6E8_CANLF | UniProtKB/TrEMBL | |
A0A8P0STF4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5JCF5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6JDF8_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:48215 | ENTREZGENE |