Evidence Details for OSBPL6
Basic Information Top
| Gene Symbol: | OSBPL6 ( FLJ36583,MGC59642,ORP6 ) |
|---|---|
| Gene Full Name: | oxysterol binding protein-like 6 |
| Band: | 2q31.2 |
| Quick Links | Entrez ID:114880; OMIM: 606734; Uniprot ID:OSBL6_HUMAN; ENSEMBL ID: ENSG00000079156; HGNC ID: 16388 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>OSBPL6|114880|nucleotide
ATGAGTTCAGATGAGAAGGGCATTTCCCCTGCTCATAAAACATCCACTCCAACCCATAGAAGTGCCTCCTCTTCAACATCCTCCCAAAGGGACAGTAGGCAGAGT
ATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGAAGCTGACAGCTGG
GAAATTATAGAAGGGCTGAAAATAGGCCAAACCAATGTCCAGAAACCAGACAAACATGAGGGCTTTATGCTGAAGAAAAGAAAATGGCCTTTAAAAGGCTGGCAC
AAGCGTTTTTTTGTCCTGGATAATGGAATGTTAAAGTATTCAAAGGCACCACTCGATATTCAGAAAGGAAAGGTCCATGGGAGCATAGATGTGGGACTCTCAGTC
ATGTCAATTAAAAAGAAAGCTCGAAGAATAGACCTTGACACCGAAGAGCACATCTATCATTTGAAGGTGAAATCCCAGGACTGGTTTGATGCATGGGTCTCCAAA
CTGCGACATCATCGGTTGTATCGTCAGAATGAAATTGTGAGATCACCAAGAGATGCTAGTTTTCACATATTTCCTTCAACGTCCACAGCTGAATCCTCACCAGCT
GCTAATGTTTCTGTAATGGATGGAAAGATGCAACCAAACAGCTTTCCGTGGCAGTCCCCTTTACCATGCAGCAATAGCCTCCCTGCAACGTGCACAACTGGCCAG
AGTAAAGTGGCAGCCTGGTTACAGGACTCGGAAGAGATGGACAGGTGTGCAGAAGATCTTGCACATTGCCAGTCAAACCTTGTGGAACTTAGCAAACTCCTGCAA
AATTTGGAAATACTTCAGAGAACTCAGTCGGCACCTAACTTTACTGACATGCAGGCTAACTGTGTAGATATTTCAAAGAAAGACAAGCGGGTCACAAGACGATGG
AGAACAAAAAGTGTCAGCAAAGATACAAAAATACAACTGCAGGAAGGGCCACCCGCGAAGGGCCAGTTCAGCACAACTCGGCGCCGGCAGAGGCTAGCGGCAGCA
GTGGCTACAACAGTTCCTTTCAGTGCTACCATGTCACCAGTTCGCTTGCATTCCTCCAACCCCAACCTTTGTGCAGATATTGAATTTCAGACTCCCCCTAGCCAC
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ATGAGTTCAGATGAGAAGGGCATTTCCCCTGCTCATAAAACATCCACTCCAACCCATAGAAGTGCCTCCTCTTCAACATCCTCCCAAAGGGACAGTAGGCAGAGT
ATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGAAGCTGACAGCTGG
GAAATTATAGAAGGGCTGAAAATAGGCCAAACCAATGTCCAGAAACCAGACAAACATGAGGGCTTTATGCTGAAGAAAAGAAAATGGCCTTTAAAAGGCTGGCAC
AAGCGTTTTTTTGTCCTGGATAATGGAATGTTAAAGTATTCAAAGGCACCACTCGATATTCAGAAAGGAAAGGTCCATGGGAGCATAGATGTGGGACTCTCAGTC
ATGTCAATTAAAAAGAAAGCTCGAAGAATAGACCTTGACACCGAAGAGCACATCTATCATTTGAAGGTGAAATCCCAGGACTGGTTTGATGCATGGGTCTCCAAA
CTGCGACATCATCGGTTGTATCGTCAGAATGAAATTGTGAGATCACCAAGAGATGCTAGTTTTCACATATTTCCTTCAACGTCCACAGCTGAATCCTCACCAGCT
GCTAATGTTTCTGTAATGGATGGAAAGATGCAACCAAACAGCTTTCCGTGGCAGTCCCCTTTACCATGCAGCAATAGCCTCCCTGCAACGTGCACAACTGGCCAG
AGTAAAGTGGCAGCCTGGTTACAGGACTCGGAAGAGATGGACAGGTGTGCAGAAGATCTTGCACATTGCCAGTCAAACCTTGTGGAACTTAGCAAACTCCTGCAA
AATTTGGAAATACTTCAGAGAACTCAGTCGGCACCTAACTTTACTGACATGCAGGCTAACTGTGTAGATATTTCAAAGAAAGACAAGCGGGTCACAAGACGATGG
AGAACAAAAAGTGTCAGCAAAGATACAAAAATACAACTGCAGGAAGGGCCACCCGCGAAGGGCCAGTTCAGCACAACTCGGCGCCGGCAGAGGCTAGCGGCAGCA
GTGGCTACAACAGTTCCTTTCAGTGCTACCATGTCACCAGTTCGCTTGCATTCCTCCAACCCCAACCTTTGTGCAGATATTGAATTTCAGACTCCCCCTAGCCAC
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>OSBPL6|114880|protein
MSSDEKGISPAHKTSTPTHRSASSSTSSQRDSRQSIHILERTASSSTEPSVSRQLLEPEPVPLSKEADSWEIIEGLKIGQTNVQKPDKHEGFMLKKRKWPLKGWH
KRFFVLDNGMLKYSKAPLDIQKGKVHGSIDVGLSVMSIKKKARRIDLDTEEHIYHLKVKSQDWFDAWVSKLRHHRLYRQNEIVRSPRDASFHIFPSTSTAESSPA
ANVSVMDGKMQPNSFPWQSPLPCSNSLPATCTTGQSKVAAWLQDSEEMDRCAEDLAHCQSNLVELSKLLQNLEILQRTQSAPNFTDMQANCVDISKKDKRVTRRW
RTKSVSKDTKIQLQEGPPAKGQFSTTRRRQRLAAAVATTVPFSATMSPVRLHSSNPNLCADIEFQTPPSHLTDPLESSTDYTKLQEEFCLIAQKVHSLLKSAFNS
IAIEKEKLKQMVSEQDHSKGHSTQMARLRQSLSQALNQNAELRSRLNRIHSESIICDQVVSVNIIPSPDEAGEQIHVSLPLSQQVANESRLSMSESVSEFFDAQE
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MSSDEKGISPAHKTSTPTHRSASSSTSSQRDSRQSIHILERTASSSTEPSVSRQLLEPEPVPLSKEADSWEIIEGLKIGQTNVQKPDKHEGFMLKKRKWPLKGWH
KRFFVLDNGMLKYSKAPLDIQKGKVHGSIDVGLSVMSIKKKARRIDLDTEEHIYHLKVKSQDWFDAWVSKLRHHRLYRQNEIVRSPRDASFHIFPSTSTAESSPA
ANVSVMDGKMQPNSFPWQSPLPCSNSLPATCTTGQSKVAAWLQDSEEMDRCAEDLAHCQSNLVELSKLLQNLEILQRTQSAPNFTDMQANCVDISKKDKRVTRRW
RTKSVSKDTKIQLQEGPPAKGQFSTTRRRQRLAAAVATTVPFSATMSPVRLHSSNPNLCADIEFQTPPSHLTDPLESSTDYTKLQEEFCLIAQKVHSLLKSAFNS
IAIEKEKLKQMVSEQDHSKGHSTQMARLRQSLSQALNQNAELRSRLNRIHSESIICDQVVSVNIIPSPDEAGEQIHVSLPLSQQVANESRLSMSESVSEFFDAQE
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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 | 1 (3) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) |  | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_4 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 (18.25%) | | | ASD | - - |
- | 188 (18.09%) |
- - | ||
CNV Studies TopLinkage Studies Top