Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CPEB4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CPEB4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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CPEB4 (Sus scrofa - pig) |
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CPEB4 (Homo sapiens - human) |
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Cpeb4 (Mus musculus - house mouse) |
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Cpeb4 (Rattus norvegicus - Norway rat) |
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Cpeb4 (Chinchilla lanigera - long-tailed chinchilla) |
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CPEB4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CPEB4 (Canis lupus familiaris - dog) |
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Cpeb4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CPEB4 (Chlorocebus sabaeus - green monkey) |
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Cpeb4 (Heterocephalus glaber - naked mole-rat) |
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Variants in CPEB4
756 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 | 9 | 4 | 3 | 5 | 2 | 23 | 2 | 3 | 3 |
Low | 1 | ||||||||
Below cutoff |
RefSeq Transcripts | XM_003134043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_003359814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005657622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005657623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005657625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK394633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU930011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GBZA01000146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000018491 ⟹ ENSSSCP00000017991 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000053922 ⟹ ENSSSCP00000055466 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000056956 ⟹ ENSSSCP00000040198 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000065962 ⟹ ENSSSCP00000035166 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000094228 ⟹ ENSSSCP00000077529 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003134043 ⟹ XP_003134091 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_003359814 ⟹ XP_003359862 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005657622 ⟹ XP_005657679 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005657623 ⟹ XP_005657680 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005657625 ⟹ XP_005657682 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_003134091 | (Get FASTA) | NCBI Sequence Viewer |
XP_003359862 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005657679 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005657680 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005657682 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000017991.5 | ||
ENSSSCP00000035166 | |||
ENSSSCP00000035166.2 | |||
ENSSSCP00000040198 | |||
ENSSSCP00000040198.3 | |||
ENSSSCP00000055466 | |||
ENSSSCP00000055466.3 | |||
ENSSSCP00000077529 | |||
ENSSSCP00000077529.1 | |||
ENSSSCP00005009771.1 | |||
ENSSSCP00005009781.1 | |||
ENSSSCP00005009794.1 | |||
ENSSSCP00005009866.1 | |||
ENSSSCP00005009872.1 | |||
ENSSSCP00005009886.1 | |||
ENSSSCP00005009897.1 | |||
ENSSSCP00015022643.1 | |||
ENSSSCP00015022665.1 | |||
ENSSSCP00015022744.1 | |||
ENSSSCP00025045158.1 | |||
ENSSSCP00025045217.1 | |||
ENSSSCP00025045265.1 | |||
ENSSSCP00025045320.1 | |||
ENSSSCP00025045394.1 | |||
ENSSSCP00025045434.1 | |||
ENSSSCP00030024768.1 | |||
ENSSSCP00030024793.1 | |||
ENSSSCP00030024815.1 | |||
ENSSSCP00030024853.1 | |||
ENSSSCP00030024887.1 | |||
ENSSSCP00030024905.1 | |||
ENSSSCP00035013289.1 | |||
ENSSSCP00035013295.1 | |||
ENSSSCP00035013301.1 | |||
ENSSSCP00035013308.1 | |||
ENSSSCP00035013312.1 | |||
ENSSSCP00035013315.1 | |||
ENSSSCP00040007791.1 | |||
ENSSSCP00040007807.1 | |||
ENSSSCP00040007824.1 | |||
ENSSSCP00040007849.1 | |||
ENSSSCP00040007891.1 | |||
ENSSSCP00040007898.1 | |||
ENSSSCP00045031076.1 | |||
ENSSSCP00045031165.1 | |||
ENSSSCP00045031245.1 | |||
ENSSSCP00045031335.1 | |||
ENSSSCP00045031460.1 | |||
ENSSSCP00045031539.1 | |||
ENSSSCP00050028045.1 | |||
ENSSSCP00050028050.1 | |||
ENSSSCP00050028051.1 | |||
ENSSSCP00050028053.1 | |||
ENSSSCP00050028056.1 | |||
ENSSSCP00050028058.1 | |||
ENSSSCP00055027706.1 | |||
ENSSSCP00055027790.1 | |||
ENSSSCP00055027868.1 | |||
ENSSSCP00055027951.1 | |||
ENSSSCP00055028098.1 | |||
ENSSSCP00055028158.1 | |||
ENSSSCP00060020099.1 | |||
ENSSSCP00060020102.1 | |||
ENSSSCP00060020109.1 | |||
ENSSSCP00060020120.1 | |||
ENSSSCP00060020132.1 | |||
ENSSSCP00060020133.1 | |||
ENSSSCP00065033666.1 | |||
ENSSSCP00065033671.1 | |||
ENSSSCP00065033674.1 | |||
ENSSSCP00065033680.1 | |||
ENSSSCP00065033695.1 | |||
ENSSSCP00065033698.1 | |||
ENSSSCP00070026315.1 | |||
ENSSSCP00070026324.1 | |||
ENSSSCP00070026331.1 | |||
ENSSSCP00070026341.1 | |||
ENSSSCP00070026348.1 | |||
GenBank Protein | JAG69622 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | XP_005657682 ⟸ XM_005657625 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8D0IGI7 (UniProtKB/TrEMBL), A0A8D0TEX0 (UniProtKB/TrEMBL), A0A8D0ID66 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005657680 ⟸ XM_005657623 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0B8RZN0 (UniProtKB/TrEMBL), A0A480QH89 (UniProtKB/TrEMBL), A0A4X1U944 (UniProtKB/TrEMBL), A0A286ZUJ5 (UniProtKB/TrEMBL), A0A8D0TEX0 (UniProtKB/TrEMBL), A0A8D0ID66 (UniProtKB/TrEMBL), A0A8D0IGN5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_003134091 ⟸ XM_003134043 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A480ET24 (UniProtKB/TrEMBL), A0A4X1UE07 (UniProtKB/TrEMBL), A0A287BFV6 (UniProtKB/TrEMBL), A0A8D0TEX0 (UniProtKB/TrEMBL), A0A8D0ID66 (UniProtKB/TrEMBL), A0A8D0IFV8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005657679 ⟸ XM_005657622 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A4X1UDC8 (UniProtKB/TrEMBL), A0A8D0TEX0 (UniProtKB/TrEMBL), A0A8D0ID66 (UniProtKB/TrEMBL), A0A8D1I930 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_003359862 ⟸ XM_003359814 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A4X1UEL5 (UniProtKB/TrEMBL), A0A8W4FDZ1 (UniProtKB/TrEMBL), A0A8D0TEX0 (UniProtKB/TrEMBL), A0A8D0ID66 (UniProtKB/TrEMBL), A0A8D0TKB2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000035166 ⟸ ENSSSCT00000065962 |
RefSeq Acc Id: | ENSSSCP00000040198 ⟸ ENSSSCT00000056956 |
RefSeq Acc Id: | ENSSSCP00000055466 ⟸ ENSSSCT00000053922 |
RefSeq Acc Id: | ENSSSCP00000017991 ⟸ ENSSSCT00000018491 |
RefSeq Acc Id: | ENSSSCP00000077529 ⟸ ENSSSCT00000094228 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000016981 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005010645 | UniProtKB/TrEMBL | |
ENSSSCG00015041484 | UniProtKB/TrEMBL | |
ENSSSCG00025074149 | UniProtKB/TrEMBL | |
ENSSSCG00030038926 | UniProtKB/TrEMBL | |
ENSSSCG00035025563 | UniProtKB/TrEMBL | |
ENSSSCG00040014182 | UniProtKB/TrEMBL | |
ENSSSCG00045026328 | UniProtKB/TrEMBL | |
ENSSSCG00050047771 | UniProtKB/TrEMBL | |
ENSSSCG00055017796 | UniProtKB/TrEMBL | |
ENSSSCG00060034643 | UniProtKB/TrEMBL | |
ENSSSCG00065056557 | UniProtKB/TrEMBL | |
ENSSSCG00070016041 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000018491.5 | UniProtKB/TrEMBL |
ENSSSCT00000053922 | ENTREZGENE | |
ENSSSCT00000053922.3 | UniProtKB/TrEMBL | |
ENSSSCT00000056956 | ENTREZGENE | |
ENSSSCT00000056956.3 | UniProtKB/TrEMBL | |
ENSSSCT00000065962 | ENTREZGENE | |
ENSSSCT00000065962.3 | UniProtKB/TrEMBL | |
ENSSSCT00000094228 | ENTREZGENE | |
ENSSSCT00000094228.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016368.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016387.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016404.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016515.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016523.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016545.1 | UniProtKB/TrEMBL | |
ENSSSCT00005016565.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056500.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056565.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056766.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102100.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102217.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102312.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102430.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102558.1 | UniProtKB/TrEMBL | |
ENSSSCT00025102627.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054213.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054253.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054303.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054383.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054470.1 | UniProtKB/TrEMBL | |
ENSSSCT00030054508.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033665.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033675.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033684.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033701.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033714.1 | UniProtKB/TrEMBL | |
ENSSSCT00035033718.1 | UniProtKB/TrEMBL | |
ENSSSCT00040018984.1 | UniProtKB/TrEMBL | |
ENSSSCT00040019012.1 | UniProtKB/TrEMBL | |
ENSSSCT00040019041.1 | UniProtKB/TrEMBL | |
ENSSSCT00040019083.1 | UniProtKB/TrEMBL | |
ENSSSCT00040019160.1 | UniProtKB/TrEMBL | |
ENSSSCT00040019174.1 | UniProtKB/TrEMBL | |
ENSSSCT00045044791.1 | UniProtKB/TrEMBL | |
ENSSSCT00045044919.1 | UniProtKB/TrEMBL | |
ENSSSCT00045045047.1 | UniProtKB/TrEMBL | |
ENSSSCT00045045181.1 | UniProtKB/TrEMBL | |
ENSSSCT00045045349.1 | UniProtKB/TrEMBL | |
ENSSSCT00045045455.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065091.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065097.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065099.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065105.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065113.1 | UniProtKB/TrEMBL | |
ENSSSCT00050065114.1 | UniProtKB/TrEMBL | |
ENSSSCT00055034882.1 | UniProtKB/TrEMBL | |
ENSSSCT00055034993.1 | UniProtKB/TrEMBL | |
ENSSSCT00055035090.1 | UniProtKB/TrEMBL | |
ENSSSCT00055035196.1 | UniProtKB/TrEMBL | |
ENSSSCT00055035384.1 | UniProtKB/TrEMBL | |
ENSSSCT00055035449.1 | UniProtKB/TrEMBL | |
ENSSSCT00060046954.1 | UniProtKB/TrEMBL | |
ENSSSCT00060046960.1 | UniProtKB/TrEMBL | |
ENSSSCT00060046974.1 | UniProtKB/TrEMBL | |
ENSSSCT00060046989.1 | UniProtKB/TrEMBL | |
ENSSSCT00060047010.1 | UniProtKB/TrEMBL | |
ENSSSCT00060047013.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077429.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077439.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077447.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077461.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077488.1 | UniProtKB/TrEMBL | |
ENSSSCT00065077495.1 | UniProtKB/TrEMBL | |
ENSSSCT00070031569.1 | UniProtKB/TrEMBL | |
ENSSSCT00070031580.1 | UniProtKB/TrEMBL | |
ENSSSCT00070031587.1 | UniProtKB/TrEMBL | |
ENSSSCT00070031599.1 | UniProtKB/TrEMBL | |
ENSSSCT00070031606.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.70.330 | UniProtKB/TrEMBL |
4.10.640.40 | UniProtKB/TrEMBL | |
InterPro | CEBP_ZZ | UniProtKB/TrEMBL |
CEBP_ZZ_sf | UniProtKB/TrEMBL | |
CPEB | UniProtKB/TrEMBL | |
Nucleotide-bd_a/b_plait_sf | UniProtKB/TrEMBL | |
RBD_domain_sf | UniProtKB/TrEMBL | |
RRM_dom | UniProtKB/TrEMBL | |
KEGG Report | ssc:100521758 | UniProtKB/TrEMBL |
NCBI Gene | CPEB4 | ENTREZGENE |
PANTHER | CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4 | UniProtKB/TrEMBL |
PTHR12566 | UniProtKB/TrEMBL | |
Pfam | CEBP_ZZ | UniProtKB/TrEMBL |
RRM_7 | UniProtKB/TrEMBL | |
PROSITE | RRM | UniProtKB/TrEMBL |
SMART | RRM | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF54928 | UniProtKB/TrEMBL |
UniProt | A0A0B8RZN0 | ENTREZGENE |
A0A286ZUJ5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A287A8S6_PIG | UniProtKB/TrEMBL | |
A0A287BFV6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480ET24 | ENTREZGENE | |
A0A480QH89 | ENTREZGENE | |
A0A4X1U944 | ENTREZGENE | |
A0A4X1UDC8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1UDD4_PIG | UniProtKB/TrEMBL | |
A0A4X1UE07 | ENTREZGENE | |
A0A4X1UEL5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0ID66 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0IFV8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0IGI7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0IGN5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0IJU9_PIG | UniProtKB/TrEMBL | |
A0A8D0TEX0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0TKB2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0WQP5_PIG | UniProtKB/TrEMBL | |
A0A8D1I930 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1MU14_PIG | UniProtKB/TrEMBL | |
A0A8D1R7U1_PIG | UniProtKB/TrEMBL | |
A0A8D1V6G3_PIG | UniProtKB/TrEMBL | |
A0A8W4FDZ1 | ENTREZGENE | |
F1SJZ5_PIG | UniProtKB/TrEMBL | |
UniProt Secondary | A0A480ET24 | UniProtKB/TrEMBL |
A0A480QH89 | UniProtKB/TrEMBL | |
A0A4X1U944 | UniProtKB/TrEMBL | |
A0A4X1UE07 | UniProtKB/TrEMBL | |
A0A8W4FDZ1 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:86939 | ENTREZGENE |