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| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.