Evidence Details for SREK1IP1
Basic Information Top
| Gene Symbol: | SREK1IP1 ( FLJ36754,MGC131910,MGC150548,MGC150549,P18SRP,SFRS12IP1 ) |
|---|---|
| Gene Full Name: | SREK1-interacting protein 1 |
| Band: | 5q12.3 |
| Quick Links | Entrez ID:285672; OMIM: NA; Uniprot ID:SR1IP_HUMAN; ENSEMBL ID: ENSG00000153006; HGNC ID: 26716 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SREK1IP1|285672|nucleotide
ATGGCAGTCCCAGGTTGCAACAAGGACAGTGTCAGAGCAGGCTGTAAAAAATGTGGCTACCCTGGTCACCTGACTTTTGAATGCCGCAATTTTCTCCGAGTAGAC
CCTAAAAGGGACATAGTTTTGGATGTCAGCAGTACAAGTAGTGAAGATAGCGATGAAGAGAATGAAGAACTGAATAAATTGCAGGCATTACAGGAAAAAAGAATA
AATGAAGAAGAGGAAAAGAAGAAAGAAAAAAGCAAAGAAAAAATCAAATTGAAAAAAAAAAGGAAAAGGTCTTACTCATCCAGTTCCACTGAAGAGGACACTTCA
AAACAAAAGAAACAAAAATATCAGAAGAAAGAAAAGAAAAAAGAAAAAAAGAGTAAATCAAAAAAAGGGAAACATCACAAAAAGGAAAAAAAGAAGAGAAAAAAG
GAAAAGCATTCTTCTACACCTAATAGTTCTGAATTCTCCAGAAAGTAA
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ATGGCAGTCCCAGGTTGCAACAAGGACAGTGTCAGAGCAGGCTGTAAAAAATGTGGCTACCCTGGTCACCTGACTTTTGAATGCCGCAATTTTCTCCGAGTAGAC
CCTAAAAGGGACATAGTTTTGGATGTCAGCAGTACAAGTAGTGAAGATAGCGATGAAGAGAATGAAGAACTGAATAAATTGCAGGCATTACAGGAAAAAAGAATA
AATGAAGAAGAGGAAAAGAAGAAAGAAAAAAGCAAAGAAAAAATCAAATTGAAAAAAAAAAGGAAAAGGTCTTACTCATCCAGTTCCACTGAAGAGGACACTTCA
AAACAAAAGAAACAAAAATATCAGAAGAAAGAAAAGAAAAAAGAAAAAAAGAGTAAATCAAAAAAAGGGAAACATCACAAAAAGGAAAAAAAGAAGAGAAAAAAG
GAAAAGCATTCTTCTACACCTAATAGTTCTGAATTCTCCAGAAAGTAA
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>SREK1IP1|285672|protein
MAVPGCNKDSVRAGCKKCGYPGHLTFECRNFLRVDPKRDIVLDVSSTSSEDSDEENEELNKLQALQEKRINEEEEKKKEKSKEKIKLKKKRKRSYSSSSTEEDTS
KQKKQKYQKKEKKKEKKSKSKKGKHHKKEKKKRKKEKHSSTPNSSEFSRK
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MAVPGCNKDSVRAGCKKCGYPGHLTFECRNFLRVDPKRDIVLDVSSTSSEDSDEENEELNKLQALQEKRINEEEEKKKEKSKEKIKLKKKRKRSYSSSSTEEDTS
KQKKQKYQKKEKKKEKKSKSKKGKHHKKEKKKRKKEKHSSTPNSSEFSRK
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) |  |  | autism with nonaffected sib pairs | autism | 17 (-) |
0.81 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.