Evidence Details for C16orf68
Basic Information Top
| Gene Symbol: | C16orf68 ( FLJ12433,MGC2654 ) |
|---|---|
| Gene Full Name: | chromosome 16 open reading frame 68 |
| Band: | 16p13.2 |
| Quick Links | Entrez ID:79091; OMIM: NA; Uniprot ID:CP068_HUMAN; ENSEMBL ID: ENSG00000067365; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C16orf68|79091|nucleotide
ATGGTACAGCTGGCTCCTGCGGCAGCCATGGACGAGGTCACCTTTAGGAGCGACACTGTGCTGTCAGATGTCCACCTCTATACCCCGAACCATAGACATCTCATG
GTACGGCTGAACAGCGTGGGGCAGCCAGTTTTCCTGTCCCAATTCAAGCTTCTATGGAGCCAAGACTCTTGGACAGATTCAGGAGCCAAGGGTGGCAGTCACAGA
GATGTTCACACAAAGGAGCCTCCTTCTGCTGAGACAGGCAGCACAGGGTCCCCTCCAGGAAGTGGCCATGGTAATGAGGGTTTCTCCCTCCAGGCCGGGACTGAC
ACCACTGGCCAGGAAGTGGCTGAAGCTCAGCTGGATGAGGATGGGGATTTGGACGTGGTGAGAAGACCACGAGCCGCCTCTGATTCCAACCCAGCAGGGCCTCTG
AGAGACAAGGTACATCCCATGATTCTAGCACAGGAAGAAGACGACGTCCTGGGAGAGGAAGCACAAGGCAGCCCGCACGATATCATCAGAATAGAGCACACCATG
GCCACGCCCCTGGAGGATGTTGGCAAGCAGGTGTGGCGGGGCGCCCTGCTCCTGGCAGACTACATCCTGTTCCGACAGGACCTCTTCCGAGGATGTACAGCGCTG
GAGCTCGGGGCCGGCACGGGGCTCGCTAGCATCATCGCAGCCACCATGGCACGGACCGTTTATTGTACAGATGTCGGTGCAGATCTCTTGTCCATGTGCCAGCGA
AACATTGCCCTCAACAGCCACCTGGCTGCCACTGGAGGTGGTATAGTTAGGGTCAAAGAACTGGACTGGCTGAAGGACGACCTCTGCACAGATCCCAAGGTCCCC
TTCAGTTGGTCACAAGAGGAAATTTCTGACTTGTACGATCACACCACCATCCTGTTTGCAGCCGAAGTGTTTTACGACGACGACTTGACTGATGCTGTGTTTAAA
ACGCTCTCCCGACTCGCCCACAGATTGAAAAATGCCTGCACAGCCATACTGTCGGTGGAGAAGAGGCTCAACTTCACATTGAGACACTTGGACGTCACATGTGAA
GCCTACGATCACTTCCGCTCCTGCCTGCACGCGCTGGAGCAGCTCGCAGATGGCAAGCTGCGCTTCGTGGTGGAGCCCGTGGAGGCCTCCTTCCCACAGCTCCTG
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ATGGTACAGCTGGCTCCTGCGGCAGCCATGGACGAGGTCACCTTTAGGAGCGACACTGTGCTGTCAGATGTCCACCTCTATACCCCGAACCATAGACATCTCATG
GTACGGCTGAACAGCGTGGGGCAGCCAGTTTTCCTGTCCCAATTCAAGCTTCTATGGAGCCAAGACTCTTGGACAGATTCAGGAGCCAAGGGTGGCAGTCACAGA
GATGTTCACACAAAGGAGCCTCCTTCTGCTGAGACAGGCAGCACAGGGTCCCCTCCAGGAAGTGGCCATGGTAATGAGGGTTTCTCCCTCCAGGCCGGGACTGAC
ACCACTGGCCAGGAAGTGGCTGAAGCTCAGCTGGATGAGGATGGGGATTTGGACGTGGTGAGAAGACCACGAGCCGCCTCTGATTCCAACCCAGCAGGGCCTCTG
AGAGACAAGGTACATCCCATGATTCTAGCACAGGAAGAAGACGACGTCCTGGGAGAGGAAGCACAAGGCAGCCCGCACGATATCATCAGAATAGAGCACACCATG
GCCACGCCCCTGGAGGATGTTGGCAAGCAGGTGTGGCGGGGCGCCCTGCTCCTGGCAGACTACATCCTGTTCCGACAGGACCTCTTCCGAGGATGTACAGCGCTG
GAGCTCGGGGCCGGCACGGGGCTCGCTAGCATCATCGCAGCCACCATGGCACGGACCGTTTATTGTACAGATGTCGGTGCAGATCTCTTGTCCATGTGCCAGCGA
AACATTGCCCTCAACAGCCACCTGGCTGCCACTGGAGGTGGTATAGTTAGGGTCAAAGAACTGGACTGGCTGAAGGACGACCTCTGCACAGATCCCAAGGTCCCC
TTCAGTTGGTCACAAGAGGAAATTTCTGACTTGTACGATCACACCACCATCCTGTTTGCAGCCGAAGTGTTTTACGACGACGACTTGACTGATGCTGTGTTTAAA
ACGCTCTCCCGACTCGCCCACAGATTGAAAAATGCCTGCACAGCCATACTGTCGGTGGAGAAGAGGCTCAACTTCACATTGAGACACTTGGACGTCACATGTGAA
GCCTACGATCACTTCCGCTCCTGCCTGCACGCGCTGGAGCAGCTCGCAGATGGCAAGCTGCGCTTCGTGGTGGAGCCCGTGGAGGCCTCCTTCCCACAGCTCCTG
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>C16orf68|79091|protein
MVQLAPAAAMDEVTFRSDTVLSDVHLYTPNHRHLMVRLNSVGQPVFLSQFKLLWSQDSWTDSGAKGGSHRDVHTKEPPSAETGSTGSPPGSGHGNEGFSLQAGTD
TTGQEVAEAQLDEDGDLDVVRRPRAASDSNPAGPLRDKVHPMILAQEEDDVLGEEAQGSPHDIIRIEHTMATPLEDVGKQVWRGALLLADYILFRQDLFRGCTAL
ELGAGTGLASIIAATMARTVYCTDVGADLLSMCQRNIALNSHLAATGGGIVRVKELDWLKDDLCTDPKVPFSWSQEEISDLYDHTTILFAAEVFYDDDLTDAVFK
TLSRLAHRLKNACTAILSVEKRLNFTLRHLDVTCEAYDHFRSCLHALEQLADGKLRFVVEPVEASFPQLLVYERLQQLELWKIIAEPVT
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MVQLAPAAAMDEVTFRSDTVLSDVHLYTPNHRHLMVRLNSVGQPVFLSQFKLLWSQDSWTDSGAKGGSHRDVHTKEPPSAETGSTGSPPGSGHGNEGFSLQAGTD
TTGQEVAEAQLDEDGDLDVVRRPRAASDSNPAGPLRDKVHPMILAQEEDDVLGEEAQGSPHDIIRIEHTMATPLEDVGKQVWRGALLLADYILFRQDLFRGCTAL
ELGAGTGLASIIAATMARTVYCTDVGADLLSMCQRNIALNSHLAATGGGIVRVKELDWLKDDLCTDPKVPFSWSQEEISDLYDHTTILFAAEVFYDDDLTDAVFK
TLSRLAHRLKNACTAILSVEKRLNFTLRHLDVTCEAYDHFRSCLHALEQLADGKLRFVVEPVEASFPQLLVYERLQQLELWKIIAEPVT
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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 | 2 (2) | 0 (2) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 12 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) |  | | 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 | ||||||||||||
| Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | | | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top