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 Top