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 Top
Click 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 Top
Genome-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
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
McCauley, 2005 | - | microsatellite-based genomic screen | autism | 158 | - | 158 | - | 333 | - | - | ||
Bailey, 1998 | - | microsatellite-based genomic screen | PDD | 99 | - | 99 | - | - | - | - | ||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - | ||
Buxbaum, 2004 | USA | microsatellite-based genomic screen | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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