Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital nervous system abnormality | | ISO | Eml1 (Mus musculus) | 9068941 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital nervous system abnormality | | ISO | Eml1 (Mus musculus) | 9068941 | | MouseDO | | |
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EML1 (Sus scrofa - pig) |
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EML1 (Homo sapiens - human) |
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Eml1 (Mus musculus - house mouse) |
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Eml1 (Rattus norvegicus - Norway rat) |
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Eml1 (Chinchilla lanigera - long-tailed chinchilla) |
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EML1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EML1 (Canis lupus familiaris - dog) |
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Eml1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EML1 (Chlorocebus sabaeus - green monkey) |
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Eml1 (Heterocephalus glaber - naked mole-rat) |
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Variants in EML1
8588 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 | 2 | 2 | 10 | 1 | |||||
Low | 8 | 4 | 3 | 5 | 13 | 2 | 2 | 1 | |
Below cutoff |
RefSeq Acc Id: | ENSSSCT00000027109 ⟹ ENSSSCP00000024697 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000031136 ⟹ ENSSSCP00000022266 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000038504 ⟹ ENSSSCP00000049815 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000040196 ⟹ ENSSSCP00000033696 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000059589 ⟹ ENSSSCP00000055387 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000065578 ⟹ ENSSSCP00000058184 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000071485 ⟹ ENSSSCP00000059702 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000071579 ⟹ ENSSSCP00000066642 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000075658 ⟹ ENSSSCP00000073541 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_021099692 ⟹ XP_020955351 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099693 ⟹ XP_020955352 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099694 ⟹ XP_020955353 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099695 ⟹ XP_020955354 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099696 ⟹ XP_020955355 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099697 ⟹ XP_020955356 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021099698 ⟹ XP_020955357 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XP_020955355 ⟸ XM_021099696 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A287BGB6 (UniProtKB/TrEMBL), A0A8D0V904 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955356 ⟸ XM_021099697 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A480JKX8 (UniProtKB/TrEMBL), A0A4X1TLN1 (UniProtKB/TrEMBL), A0A8D0UQE5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955357 ⟸ XM_021099698 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A287BGB6 (UniProtKB/TrEMBL), A0A4X1TLN8 (UniProtKB/TrEMBL), A0A8D0V904 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955351 ⟸ XM_021099692 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A5G2Q8W0 (UniProtKB/TrEMBL), A0A286ZQ14 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955352 ⟸ XM_021099693 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A480NFP4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955353 ⟸ XM_021099694 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A480NFP4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020955354 ⟸ XM_021099695 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A480WQ55 (UniProtKB/TrEMBL), A0A480NFP4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000033696 ⟸ ENSSSCT00000040196 |
RefSeq Acc Id: | ENSSSCP00000058184 ⟸ ENSSSCT00000065578 |
RefSeq Acc Id: | ENSSSCP00000073541 ⟸ ENSSSCT00000075658 |
RefSeq Acc Id: | ENSSSCP00000055387 ⟸ ENSSSCT00000059589 |
RefSeq Acc Id: | ENSSSCP00000022266 ⟸ ENSSSCT00000031136 |
RefSeq Acc Id: | ENSSSCP00000024697 ⟸ ENSSSCT00000027109 |
RefSeq Acc Id: | ENSSSCP00000059702 ⟸ ENSSSCT00000071485 |
RefSeq Acc Id: | ENSSSCP00000066642 ⟸ ENSSSCT00000071579 |
RefSeq Acc Id: | ENSSSCP00000049815 ⟸ ENSSSCT00000038504 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000027667 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00015036644 | UniProtKB/TrEMBL | |
ENSSSCG00025037419 | UniProtKB/TrEMBL | |
ENSSSCG00030004246 | UniProtKB/TrEMBL | |
ENSSSCG00035036247 | UniProtKB/TrEMBL | |
ENSSSCG00040071651 | UniProtKB/TrEMBL | |
ENSSSCG00045011368 | UniProtKB/TrEMBL | |
ENSSSCG00050019508 | UniProtKB/TrEMBL | |
ENSSSCG00055027857 | UniProtKB/TrEMBL | |
ENSSSCG00060057839 | UniProtKB/TrEMBL | |
ENSSSCG00065063721 | UniProtKB/TrEMBL | |
ENSSSCG00070009796 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000027109.4 | UniProtKB/TrEMBL |
ENSSSCT00000031136 | ENTREZGENE | |
ENSSSCT00000031136.4 | UniProtKB/TrEMBL | |
ENSSSCT00000038504.3 | UniProtKB/TrEMBL | |
ENSSSCT00000040196.3 | UniProtKB/TrEMBL | |
ENSSSCT00000059589 | ENTREZGENE | |
ENSSSCT00000059589.3 | UniProtKB/TrEMBL | |
ENSSSCT00000065578.2 | UniProtKB/TrEMBL | |
ENSSSCT00000071485 | ENTREZGENE | |
ENSSSCT00000071485.2 | UniProtKB/TrEMBL | |
ENSSSCT00000075658.2 | UniProtKB/TrEMBL | |
ENSSSCT00015056041.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056743.1 | UniProtKB/TrEMBL | |
ENSSSCT00015057122.1 | UniProtKB/TrEMBL | |
ENSSSCT00015057264.1 | UniProtKB/TrEMBL | |
ENSSSCT00015058734.1 | UniProtKB/TrEMBL | |
ENSSSCT00025051429.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005838.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005855.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005863.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005878.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005922.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005944.1 | UniProtKB/TrEMBL | |
ENSSSCT00030005955.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048117.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048120.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048124.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048126.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048135.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048140.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048145.1 | UniProtKB/TrEMBL | |
ENSSSCT00035048149.1 | UniProtKB/TrEMBL | |
ENSSSCT00040099494.1 | UniProtKB/TrEMBL | |
ENSSSCT00040099788.1 | UniProtKB/TrEMBL | |
ENSSSCT00040099927.1 | UniProtKB/TrEMBL | |
ENSSSCT00040100499.1 | UniProtKB/TrEMBL | |
ENSSSCT00040100624.1 | UniProtKB/TrEMBL | |
ENSSSCT00045019894.1 | UniProtKB/TrEMBL | |
ENSSSCT00045019971.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020034.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020101.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020226.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020284.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020350.1 | UniProtKB/TrEMBL | |
ENSSSCT00045020408.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026688.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026705.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026730.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026739.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026855.1 | UniProtKB/TrEMBL | |
ENSSSCT00050026885.1 | UniProtKB/TrEMBL | |
ENSSSCT00055055924.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056014.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056104.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056193.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056273.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056376.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056588.1 | UniProtKB/TrEMBL | |
ENSSSCT00055056717.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079123.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079146.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079166.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079194.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079210.1 | UniProtKB/TrEMBL | |
ENSSSCT00060079222.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087611.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087616.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087632.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087638.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087677.1 | UniProtKB/TrEMBL | |
ENSSSCT00065087697.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019224.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019235.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019259.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019273.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019285.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019332.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019334.1 | UniProtKB/TrEMBL | |
ENSSSCT00070019351.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.130.10.10 | UniProtKB/TrEMBL |
InterPro | HELP | UniProtKB/TrEMBL |
Quinoprotein_ADH-like_supfam | UniProtKB/TrEMBL | |
WD40/YVTN_repeat-like_dom_sf | UniProtKB/TrEMBL | |
WD40_repeat | UniProtKB/TrEMBL | |
WD40_repeat_dom_sf | UniProtKB/TrEMBL | |
NCBI Gene | EML1 | ENTREZGENE |
PANTHER | ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1 | UniProtKB/TrEMBL |
WD-40 REPEAT PROTEIN | UniProtKB/TrEMBL | |
Pfam | HELP | UniProtKB/TrEMBL |
WD40 | UniProtKB/TrEMBL | |
PROSITE | WD_REPEATS_2 | UniProtKB/TrEMBL |
WD_REPEATS_REGION | UniProtKB/TrEMBL | |
SMART | WD40 | UniProtKB/TrEMBL |
Superfamily-SCOP | Calcium-dependent phosphotriesterase | UniProtKB/TrEMBL |
SSF50978 | UniProtKB/TrEMBL | |
SSF50998 | UniProtKB/TrEMBL | |
TolB, C-terminal domain | UniProtKB/TrEMBL | |
Tricorn protease domain 2 | UniProtKB/TrEMBL | |
UniProt | A0A286ZQ14 | ENTREZGENE, UniProtKB/TrEMBL |
A0A287B084_PIG | UniProtKB/TrEMBL | |
A0A287BGB6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A287BP33_PIG | UniProtKB/TrEMBL | |
A0A480JKX8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480NFP4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480WQ55 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1THB4_PIG | UniProtKB/TrEMBL | |
A0A4X1TJA0_PIG | UniProtKB/TrEMBL | |
A0A4X1TLG1_PIG | UniProtKB/TrEMBL | |
A0A4X1TLK3_PIG | UniProtKB/TrEMBL | |
A0A4X1TLN1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1TLN8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1TLT1_PIG | UniProtKB/TrEMBL | |
A0A4X1TLV7_PIG | UniProtKB/TrEMBL | |
A0A5G2Q8W0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A5G2R8Y3_PIG | UniProtKB/TrEMBL | |
A0A8D0NS73_PIG | UniProtKB/TrEMBL | |
A0A8D0NYF3_PIG | UniProtKB/TrEMBL | |
A0A8D0UQE5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0V904 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0V9G5_PIG | UniProtKB/TrEMBL | |
A0A8D1CTI4_PIG | UniProtKB/TrEMBL | |
A0A8D1G0J3_PIG | UniProtKB/TrEMBL | |
A0A8D1S8J1_PIG | UniProtKB/TrEMBL | |
A0A8D2BPB1_PIG | UniProtKB/TrEMBL | |
I3LDY1_PIG | UniProtKB/TrEMBL | |
I3LKT2_PIG | UniProtKB/TrEMBL | |
VGNC ID | VGNC:87682 | ENTREZGENE |