Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Seckel syndrome 1 | | ISO | CEP152 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21131973 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Seckel syndrome 1 | | ISO | CEP152 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21131973 | |
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CEP152 (Sus scrofa - pig) |
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CEP152 (Homo sapiens - human) |
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Variants in CEP152
2062 total Variants |
RefSeq Transcripts | XM_005659632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005659633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005659635 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013993030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013993031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013993032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013993033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021095942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021095980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK344402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU326370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU407256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU480813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU656026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01015593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000005140 ⟹ ENSSSCP00000005014 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000005142 ⟹ ENSSSCP00000005016 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000029380 ⟹ ENSSSCP00000023268 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000052554 ⟹ ENSSSCP00000051638 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000062297 ⟹ ENSSSCP00000051253 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000063098 ⟹ ENSSSCP00000047842 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005659632 ⟹ XP_005659689 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005659633 ⟹ XP_005659690 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005659635 ⟹ XP_005659692 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013993030 ⟹ XP_013848484 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013993031 ⟹ XP_013848485 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013993032 ⟹ XP_013848486 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013993033 ⟹ XP_013848487 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021095942 ⟹ XP_020951601 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021095980 ⟹ XP_020951639 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_005659689 | (Get FASTA) | NCBI Sequence Viewer |
XP_005659690 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005659692 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013848484 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013848485 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013848486 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013848487 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020951601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020951639 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000005016 | ||
ENSSSCP00000005016.4 | |||
ENSSSCP00000023268 | |||
ENSSSCP00000023268.3 | |||
ENSSSCP00000047842 | |||
ENSSSCP00000047842.3 | |||
ENSSSCP00015002230.1 | |||
ENSSSCP00015002234.1 | |||
ENSSSCP00015002237.1 | |||
ENSSSCP00025037943.1 | |||
ENSSSCP00025038324.1 | |||
ENSSSCP00030011955.1 | |||
ENSSSCP00030011965.1 | |||
ENSSSCP00030011979.1 | |||
ENSSSCP00030012000.1 | |||
ENSSSCP00030012032.1 | |||
ENSSSCP00030012042.1 | |||
ENSSSCP00030012046.1 | |||
ENSSSCP00030012059.1 | |||
ENSSSCP00035010784.1 | |||
ENSSSCP00035010789.1 | |||
ENSSSCP00035010798.1 | |||
ENSSSCP00035010805.1 | |||
ENSSSCP00035010823.1 | |||
ENSSSCP00035010833.1 | |||
ENSSSCP00040045334.1 | |||
ENSSSCP00040045365.1 | |||
ENSSSCP00040045504.1 | |||
ENSSSCP00040045563.1 | |||
ENSSSCP00040045599.1 | |||
ENSSSCP00045037708.1 | |||
ENSSSCP00045037866.1 | |||
ENSSSCP00045037996.1 | |||
ENSSSCP00050009875.1 | |||
ENSSSCP00050009914.1 | |||
ENSSSCP00055003792.1 | |||
ENSSSCP00055003808.1 | |||
ENSSSCP00055003825.1 | |||
ENSSSCP00060003269.1 | |||
ENSSSCP00060003301.1 | |||
ENSSSCP00060003309.1 | |||
ENSSSCP00065008359.1 | |||
ENSSSCP00070002954.1 | |||
ENSSSCP00070002960.1 | |||
ENSSSCP00070002970.1 | |||
ENSSSCP00070003024.1 | |||
ENSSSCP00070003058.1 |
RefSeq Acc Id: | XP_005659689 ⟸ XM_005659632 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1SQG1 (UniProtKB/TrEMBL), A0A8D1LKW9 (UniProtKB/TrEMBL), A0A8D1XN02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020951601 ⟸ XM_021095942 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D0SZW6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005659692 ⟸ XM_005659635 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8D1LLF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013848486 ⟸ XM_013993032 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8D1LKW9 (UniProtKB/TrEMBL), A0A8D1XN02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013848485 ⟸ XM_013993031 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8D0SXK5 (UniProtKB/TrEMBL), I3LGS4 (UniProtKB/TrEMBL), A0A8D0MGU3 (UniProtKB/TrEMBL), A0A8D1L6C6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013848484 ⟸ XM_013993030 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D1LKW9 (UniProtKB/TrEMBL), A0A8D1XN02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020951639 ⟸ XM_021095980 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A8D1LKW9 (UniProtKB/TrEMBL), A0A8D1XN02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013848487 ⟸ XM_013993033 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8D0MGU3 (UniProtKB/TrEMBL), A0A8D1L6C6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005659690 ⟸ XM_005659633 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1SQG1 (UniProtKB/TrEMBL), A0A8D1LKW9 (UniProtKB/TrEMBL), A0A8D1XN02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000023268 ⟸ ENSSSCT00000029380 |
RefSeq Acc Id: | ENSSSCP00000005014 ⟸ ENSSSCT00000005140 |
RefSeq Acc Id: | ENSSSCP00000005016 ⟸ ENSSSCT00000005142 |
RefSeq Acc Id: | ENSSSCP00000051638 ⟸ ENSSSCT00000052554 |
RefSeq Acc Id: | ENSSSCP00000051253 ⟸ ENSSSCT00000062297 |
RefSeq Acc Id: | ENSSSCP00000047842 ⟸ ENSSSCT00000063098 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000004657 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00015004207 | UniProtKB/TrEMBL | |
ENSSSCG00025063532 | UniProtKB/TrEMBL | |
ENSSSCG00030019381 | UniProtKB/TrEMBL | |
ENSSSCG00035021503 | UniProtKB/TrEMBL | |
ENSSSCG00040073105 | UniProtKB/TrEMBL | |
ENSSSCG00040073263 | UniProtKB/TrEMBL | |
ENSSSCG00045031699 | UniProtKB/TrEMBL | |
ENSSSCG00050017185 | UniProtKB/TrEMBL | |
ENSSSCG00055002552 | UniProtKB/TrEMBL | |
ENSSSCG00060006984 | UniProtKB/TrEMBL | |
ENSSSCG00065015555 | UniProtKB/TrEMBL | |
ENSSSCG00070001839 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000005142 | ENTREZGENE |
ENSSSCT00000005142.4 | UniProtKB/TrEMBL | |
ENSSSCT00000029380 | ENTREZGENE | |
ENSSSCT00000029380.4 | UniProtKB/TrEMBL | |
ENSSSCT00000063098 | ENTREZGENE | |
ENSSSCT00000063098.3 | UniProtKB/TrEMBL | |
ENSSSCT00015005591.1 | UniProtKB/TrEMBL | |
ENSSSCT00015005600.1 | UniProtKB/TrEMBL | |
ENSSSCT00015005606.1 | UniProtKB/TrEMBL | |
ENSSSCT00025087106.1 | UniProtKB/TrEMBL | |
ENSSSCT00025087869.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026799.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026846.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026896.1 | UniProtKB/TrEMBL | |
ENSSSCT00030026953.1 | UniProtKB/TrEMBL | |
ENSSSCT00030027041.1 | UniProtKB/TrEMBL | |
ENSSSCT00030027067.1 | UniProtKB/TrEMBL | |
ENSSSCT00030027076.1 | UniProtKB/TrEMBL | |
ENSSSCT00030027099.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028047.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028055.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028075.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028092.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028127.1 | UniProtKB/TrEMBL | |
ENSSSCT00035028146.1 | UniProtKB/TrEMBL | |
ENSSSCT00040100816.1 | UniProtKB/TrEMBL | |
ENSSSCT00040100862.1 | UniProtKB/TrEMBL | |
ENSSSCT00040101083.1 | UniProtKB/TrEMBL | |
ENSSSCT00040101194.1 | UniProtKB/TrEMBL | |
ENSSSCT00040101268.1 | UniProtKB/TrEMBL | |
ENSSSCT00045054174.1 | UniProtKB/TrEMBL | |
ENSSSCT00045054386.1 | UniProtKB/TrEMBL | |
ENSSSCT00045054560.1 | UniProtKB/TrEMBL | |
ENSSSCT00050023441.1 | UniProtKB/TrEMBL | |
ENSSSCT00050023544.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004916.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004940.1 | UniProtKB/TrEMBL | |
ENSSSCT00055004962.1 | UniProtKB/TrEMBL | |
ENSSSCT00060008922.1 | UniProtKB/TrEMBL | |
ENSSSCT00060009014.1 | UniProtKB/TrEMBL | |
ENSSSCT00060009030.1 | UniProtKB/TrEMBL | |
ENSSSCT00065020638.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003567.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003575.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003585.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003645.1 | UniProtKB/TrEMBL | |
ENSSSCT00070003685.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
3.30.505.10 | UniProtKB/TrEMBL | |
InterPro | PH-like_dom_sf | UniProtKB/TrEMBL |
PID_Shc-like | UniProtKB/TrEMBL | |
PTB/PI_dom | UniProtKB/TrEMBL | |
SH2 | UniProtKB/TrEMBL | |
SH2_dom_sf | UniProtKB/TrEMBL | |
SHC_SH2 | UniProtKB/TrEMBL | |
KEGG Report | ssc:100152345 | UniProtKB/TrEMBL |
NCBI Gene | CEP152 | ENTREZGENE |
PANTHER | PTHR10337:SF12 | UniProtKB/TrEMBL |
PTHR10337:SF6 | UniProtKB/TrEMBL | |
SHC TRANSFORMING PROTEIN | UniProtKB/TrEMBL | |
Pfam | PID | UniProtKB/TrEMBL |
SH2 | UniProtKB/TrEMBL | |
PRINTS | SH2DOMAIN | UniProtKB/TrEMBL |
SHCPIDOMAIN | UniProtKB/TrEMBL | |
PROSITE | PID | UniProtKB/TrEMBL |
SH2 | UniProtKB/TrEMBL | |
SMART | PTB | UniProtKB/TrEMBL |
SH2 | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
SSF55550 | UniProtKB/TrEMBL | |
UniProt | A0A287AVF1_PIG | UniProtKB/TrEMBL |
A0A4X1SKJ4_PIG | UniProtKB/TrEMBL | |
A0A4X1SKP6_PIG | UniProtKB/TrEMBL | |
A0A4X1SKQ3_PIG | UniProtKB/TrEMBL | |
A0A4X1SLX0_PIG | UniProtKB/TrEMBL | |
A0A4X1SM35_PIG | UniProtKB/TrEMBL | |
A0A8D0ME93_PIG | UniProtKB/TrEMBL | |
A0A8D0MGG1_PIG | UniProtKB/TrEMBL | |
A0A8D0MGU3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0SXK5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0SZW6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VVI3_PIG | UniProtKB/TrEMBL | |
A0A8D0VWY5_PIG | UniProtKB/TrEMBL | |
A0A8D0VX91_PIG | UniProtKB/TrEMBL | |
A0A8D0VXQ9_PIG | UniProtKB/TrEMBL | |
A0A8D0VY04_PIG | UniProtKB/TrEMBL | |
A0A8D0VY30_PIG | UniProtKB/TrEMBL | |
A0A8D0Z3D8_PIG | UniProtKB/TrEMBL | |
A0A8D0Z6B6_PIG | UniProtKB/TrEMBL | |
A0A8D1C1W2_PIG | UniProtKB/TrEMBL | |
A0A8D1C235_PIG | UniProtKB/TrEMBL | |
A0A8D1G3K8_PIG | UniProtKB/TrEMBL | |
A0A8D1G3N9_PIG | UniProtKB/TrEMBL | |
A0A8D1G512_PIG | UniProtKB/TrEMBL | |
A0A8D1IT72_PIG | UniProtKB/TrEMBL | |
A0A8D1L6C6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1L6F0_PIG | UniProtKB/TrEMBL | |
A0A8D1LKW9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1LLF6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1PFV6_PIG | UniProtKB/TrEMBL | |
A0A8D1PJC9_PIG | UniProtKB/TrEMBL | |
A0A8D1XN02 | ENTREZGENE, UniProtKB/TrEMBL | |
F1SQG1 | ENTREZGENE, UniProtKB/TrEMBL | |
I3LGS4 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:110570 | ENTREZGENE |