Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | periventricular nodular heterotopia | | ISO | ERMARD (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | periventricular nodular heterotopia | | ISO | ERMARD (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | | |
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ERMARD (Sus scrofa - pig) |
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ERMARD (Homo sapiens - human) |
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Ermard (Mus musculus - house mouse) |
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Ermard (Rattus norvegicus - Norway rat) |
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Ermard (Chinchilla lanigera - long-tailed chinchilla) |
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ERMARD (Pan paniscus - bonobo/pygmy chimpanzee) |
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ERMARD (Canis lupus familiaris - dog) |
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Ermard (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ERMARD (Chlorocebus sabaeus - green monkey) |
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Ermard (Heterocephalus glaber - naked mole-rat) |
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Variants in ERMARD
734 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 1 | 3 | 1 | 1 | |||||
Low | 10 | 3 | 3 | 2 | 2 | 22 | 2 | 2 | 3 |
Below cutoff |
RefSeq Acc Id: | ENSSSCT00000004434 ⟹ ENSSSCP00000004333 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000037459 ⟹ ENSSSCP00000039361 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000040859 ⟹ ENSSSCP00000043287 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000041743 ⟹ ENSSSCP00000049572 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000055698 ⟹ ENSSSCP00000032637 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_021085566 ⟹ XP_020941225 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085572 ⟹ XP_020941231 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085577 ⟹ XP_020941236 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085588 ⟹ XP_020941247 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085596 ⟹ XP_020941255 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085601 ⟹ XP_020941260 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085606 ⟹ XP_020941265 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085609 ⟹ XP_020941268 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085618 ⟹ XP_020941277 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085623 ⟹ XP_020941282 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021085627 ⟹ XP_020941286 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XP_020941255 ⟸ XM_021085596 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A480XN54 (UniProtKB/TrEMBL), A0A8D1IN30 (UniProtKB/TrEMBL), A0A287A5Z3 (UniProtKB/TrEMBL), A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941231 ⟸ XM_021085572 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A480VYH3 (UniProtKB/TrEMBL), A0A8D0UN85 (UniProtKB/TrEMBL), A0A8D1DEV5 (UniProtKB/TrEMBL), A0A8D1INC8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941268 ⟸ XM_021085609 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A480X4P6 (UniProtKB/TrEMBL), A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941277 ⟸ XM_021085618 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941282 ⟸ XM_021085623 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941225 ⟸ XM_021085566 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1VXB8 (UniProtKB/TrEMBL), A0A8D0U3Q0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941265 ⟸ XM_021085606 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A480XN54 (UniProtKB/TrEMBL), A0A8D1IN30 (UniProtKB/TrEMBL), A0A287A5Z3 (UniProtKB/TrEMBL), A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941236 ⟸ XM_021085577 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D0UN85 (UniProtKB/TrEMBL), A0A8D1DEV5 (UniProtKB/TrEMBL), A0A8D1INC8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941260 ⟸ XM_021085601 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A480XN54 (UniProtKB/TrEMBL), A0A8D1IN30 (UniProtKB/TrEMBL), A0A287A5Z3 (UniProtKB/TrEMBL), A0A480VES4 (UniProtKB/TrEMBL), A0A4X1VSD4 (UniProtKB/TrEMBL), A0A8D1DF85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941247 ⟸ XM_021085588 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8D1UPZ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020941286 ⟸ XM_021085627 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A8D1DF07 (UniProtKB/TrEMBL), F1SC01 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000043287 ⟸ ENSSSCT00000040859 |
RefSeq Acc Id: | ENSSSCP00000032637 ⟸ ENSSSCT00000055698 |
RefSeq Acc Id: | ENSSSCP00000049572 ⟸ ENSSSCT00000041743 |
RefSeq Acc Id: | ENSSSCP00000039361 ⟸ ENSSSCT00000037459 |
RefSeq Acc Id: | ENSSSCP00000004333 ⟸ ENSSSCT00000004434 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000004010 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00015043173 | UniProtKB/TrEMBL | |
ENSSSCG00025028892 | UniProtKB/TrEMBL | |
ENSSSCG00030071835 | UniProtKB/TrEMBL | |
ENSSSCG00040011685 | UniProtKB/TrEMBL | |
ENSSSCG00045029480 | UniProtKB/TrEMBL | |
ENSSSCG00060021540 | UniProtKB/TrEMBL | |
ENSSSCG00070027352 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000004434 | ENTREZGENE |
ENSSSCT00000004434.5 | UniProtKB/TrEMBL | |
ENSSSCT00000037459 | ENTREZGENE | |
ENSSSCT00000037459.3 | UniProtKB/TrEMBL | |
ENSSSCT00000040859.3 | UniProtKB/TrEMBL | |
ENSSSCT00015057508.1 | UniProtKB/TrEMBL | |
ENSSSCT00015057701.1 | UniProtKB/TrEMBL | |
ENSSSCT00015058308.1 | UniProtKB/TrEMBL | |
ENSSSCT00025039216.1 | UniProtKB/TrEMBL | |
ENSSSCT00025039328.1 | UniProtKB/TrEMBL | |
ENSSSCT00030100605.1 | UniProtKB/TrEMBL | |
ENSSSCT00030100691.1 | UniProtKB/TrEMBL | |
ENSSSCT00040015313.1 | UniProtKB/TrEMBL | |
ENSSSCT00040015369.1 | UniProtKB/TrEMBL | |
ENSSSCT00040015509.1 | UniProtKB/TrEMBL | |
ENSSSCT00045050293.1 | UniProtKB/TrEMBL | |
ENSSSCT00045050430.1 | UniProtKB/TrEMBL | |
ENSSSCT00045050788.1 | UniProtKB/TrEMBL | |
ENSSSCT00045050985.1 | UniProtKB/TrEMBL | |
ENSSSCT00060029209.1 | UniProtKB/TrEMBL | |
ENSSSCT00060029217.1 | UniProtKB/TrEMBL | |
ENSSSCT00060029232.1 | UniProtKB/TrEMBL | |
ENSSSCT00060029241.1 | UniProtKB/TrEMBL | |
ENSSSCT00070054860.1 | UniProtKB/TrEMBL | |
ENSSSCT00070054862.1 | UniProtKB/TrEMBL | |
ENSSSCT00070054869.1 | UniProtKB/TrEMBL | |
ENSSSCT00070054872.1 | UniProtKB/TrEMBL | |
ENSSSCT00070054873.1 | UniProtKB/TrEMBL | |
InterPro | DUF4209 | UniProtKB/TrEMBL |
ERMARD | UniProtKB/TrEMBL | |
NCBI Gene | ERMARD | ENTREZGENE |
PANTHER | ENDOPLASMIC RETICULUM MEMBRANE-ASSOCIATED RNA DEGRADATION PROTEIN | UniProtKB/TrEMBL |
PTHR31701 | UniProtKB/TrEMBL | |
Pfam | DUF4209 | UniProtKB/TrEMBL |
UniProt | A0A287A5Z3 | ENTREZGENE, UniProtKB/TrEMBL |
A0A287AH30_PIG | UniProtKB/TrEMBL | |
A0A480VES4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480VYH3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480X4P6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480XN54 | ENTREZGENE | |
A0A4X1VSD4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1VWW8_PIG | UniProtKB/TrEMBL | |
A0A4X1VXB8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1VZ47_PIG | UniProtKB/TrEMBL | |
A0A8D0U3Q0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0UN85 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1DEV5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1DF07 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1DF85 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1IN30 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1INC8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1UPZ0 | ENTREZGENE, UniProtKB/TrEMBL | |
F1SC01 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | A0A480XN54 | UniProtKB/TrEMBL |
VGNC ID | VGNC:87776 | ENTREZGENE |