Evidence Details for CYBASC3
Basic Information Top
Gene Symbol: | CYBASC3 ( FLJ39724,LCYTB,MGC20446 ) |
---|---|
Gene Full Name: | cytochrome b, ascorbate dependent 3 |
Band: | 11q12.2 |
Quick Links | Entrez ID:220002; OMIM: NA; Uniprot ID:CYAC3_HUMAN; ENSEMBL ID: ENSG00000162144; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CYBASC3|220002|nucleotide
ATGGTGTCTGGACGGTTCTACTTGTCCTGCCTGCTGCTGGGGTCCCTGGGCTCTATGTGCATCCTCTTCACTATCTACTGGATGCAGTACTGGCGTGGTGGCTTT
GCCTGGAATGGCAGCATCTACATGTTCAACTGGCACCCAGTGCTTATGGTTGCTGGCATGGTGGTATTCTATGGAGGTGCGTCACTGGTGTACCGCCTGCCCCAG
TCGTGGGTGGGGCCCAAACTGCCCTGGAAACTCCTCCATGCAGCGCTGCACCTGATGGCCTTCGTCCTCACTGTTGTGGGGCTGGTTGCTGTCTTTACGTTTCAC
AACCATGGAAGGACTGCCAACCTCTACTCCCTTCACAGCTGGCTGGGCATCACCACTGTCTTCCTCTTCGCCTGCCAGTGGTTCCTGGGCTTTGCTGTCTTCCTC
CTGCCCTGGGCGTCCATGTGGCTGCGCAGCCTCCTAAAACCTATCCACGTCTTTTTTGGAGCCGCCATCCTCTCTCTGTCCATCGCATCCGTCATTTCGGGCATT
AATGAGAAGCTTTTCTTCAGTTTGAAAAACACCACCAGGCCATACCACAGCCTGCCCAGTGAGGCGGTCTTTGCCAACAGCACCGGGATGCTGGTGGTGGCCTTT
GGGCTGCTGGTGCTCTACATCCTTCTGGCTTCATCTTGGAAGCGCCCAGAGCCGGGGATCCTGACCGACAGACAGCCCCTGCTGCATGATGGGGAGTGA
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ATGGTGTCTGGACGGTTCTACTTGTCCTGCCTGCTGCTGGGGTCCCTGGGCTCTATGTGCATCCTCTTCACTATCTACTGGATGCAGTACTGGCGTGGTGGCTTT
GCCTGGAATGGCAGCATCTACATGTTCAACTGGCACCCAGTGCTTATGGTTGCTGGCATGGTGGTATTCTATGGAGGTGCGTCACTGGTGTACCGCCTGCCCCAG
TCGTGGGTGGGGCCCAAACTGCCCTGGAAACTCCTCCATGCAGCGCTGCACCTGATGGCCTTCGTCCTCACTGTTGTGGGGCTGGTTGCTGTCTTTACGTTTCAC
AACCATGGAAGGACTGCCAACCTCTACTCCCTTCACAGCTGGCTGGGCATCACCACTGTCTTCCTCTTCGCCTGCCAGTGGTTCCTGGGCTTTGCTGTCTTCCTC
CTGCCCTGGGCGTCCATGTGGCTGCGCAGCCTCCTAAAACCTATCCACGTCTTTTTTGGAGCCGCCATCCTCTCTCTGTCCATCGCATCCGTCATTTCGGGCATT
AATGAGAAGCTTTTCTTCAGTTTGAAAAACACCACCAGGCCATACCACAGCCTGCCCAGTGAGGCGGTCTTTGCCAACAGCACCGGGATGCTGGTGGTGGCCTTT
GGGCTGCTGGTGCTCTACATCCTTCTGGCTTCATCTTGGAAGCGCCCAGAGCCGGGGATCCTGACCGACAGACAGCCCCTGCTGCATGATGGGGAGTGA
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>CYBASC3|220002|protein
MVSGRFYLSCLLLGSLGSMCILFTIYWMQYWRGGFAWNGSIYMFNWHPVLMVAGMVVFYGGASLVYRLPQSWVGPKLPWKLLHAALHLMAFVLTVVGLVAVFTFH
NHGRTANLYSLHSWLGITTVFLFACQWFLGFAVFLLPWASMWLRSLLKPIHVFFGAAILSLSIASVISGINEKLFFSLKNTTRPYHSLPSEAVFANSTGMLVVAF
GLLVLYILLASSWKRPEPGILTDRQPLLHDGE
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MVSGRFYLSCLLLGSLGSMCILFTIYWMQYWRGGFAWNGSIYMFNWHPVLMVAGMVVFYGGASLVYRLPQSWVGPKLPWKLLHAALHLMAFVLTVVGLVAVFTFH
NHGRTANLYSLHSWLGITTVFLFACQWFLGFAVFLLPWASMWLRSLLKPIHVFFGAAILSLSIASVISGINEKLFFSLKNTTRPYHSLPSEAVFANSTGMLVVAF
GLLVLYILLASSWKRPEPGILTDRQPLLHDGE
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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 | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bucan, 2009 | USA | SNP microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) | monozygotic twins with different severity | autism | 3 (-) |
-0.6 | Down | - | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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