AutismKB 2.0

Evidence Details for UNC80


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UNC80 ( C2orf21,FLJ14677,FLJ33496,FLJ53903,KIAA1843,UNC-80 )
Gene Full Name: unc-80 homolog (C. elegans)
Band: 2q34
Quick LinksEntrez ID:285175; OMIM: 612636; Uniprot ID:UNC80_HUMAN; ENSEMBL ID: ENSG00000144406; HGNC ID: 26582
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UNC80|285175|nucleotide
ATGGTGAAGAGGAAGAGCTCCGAGGGCCAGGAGCAGGACGGCGGCCGCGGCATCCCCCTGCCCATCCAGACCTTCCTGTGGCGGCAAACCAGTGCATTTTTGAGG
CCCAAACTGGGGAAGCAATATGAAGCTTCTTGTGTGTCCTTTGAGCGAGTGTTGGTAGAAAACAAGCTGCATGGCCTCTCTCCAGCTCTCTCTGAAGCCATCCAG
AGCATTTCCAGATGGGAACTGGTGCAAGCTGCTTTGCCTCATGTCCTCCACTGCACTGCAACCCTGCTTTCAAACCGAAACAAGCTAGGCCACCAGGATAAATTG
GGTGTTGCTGAGACAAAGCTCCTTCACACTCTACACTGGATGCTTCTGGAGGCCCCCCAGGACTGCAACAATGAGCGGTTTGGGGGTACAGACCGAGGCTCCAGC
TGGGGTGGAAGCAGCAGTGCTTTCATCCACCAGGTTGAAAACCAGGGTTCTCCAGGGCAGCCTTGCCAAAGCAGCTCTAATGACGAAGAAGAGAACAACCGAAGA
AAGATCTTCCAGAACTCCATGGCTACTGTGGAGCTCTTCGTGTTTCTGTTTGCTCCCCTGGTACACAGGATCAAGGAATCTGACCTCACCTTCCGTCTGGCCAGT
GGGCTTGTTATATGGCAGCCCATGTGGGAACACAGACAGCCCGGAGTCTCTGGCTTTACCGCACTGGTGAAGCCCATCAGGAACATCATTACAGCTAAGAGAAGT
TCTCCTATCAACAGTCAAAGCCGGACCTGTGAATCACCAAATCAAGATGCAAGACACTTAGAGGGACTCCAGGTGGTTTGTGAAACATTCCAGTCTGATTCCATC
TCACCCAAGGCCACCATTTCAGGCTGTCACCGAGGAAACTCCTTTGATGGAAGTCTGTCCTCCCAAACTTCCCAGGAAAGAGGCCCATCACATTCCAGGGCCTCT
CTTGTGATACCTCCGTGCCAAAGGTCCCGCTATGCCACCTACTTTGACGTTGCTGTTCTGCGCTGCCTACTTCAGCCCCATTGGTCTGAGGAAGGCACTCAGTGG
TCTCTGATGTACTATCTACAAAGGCTGCGACACATGTTGGAAGAGAAGCCAGAAAAGCCTCCGGAGCCAGATATTCCTCTCCTGCCCAGACCCAGGAGTAGCTCC
Show »

>UNC80|285175|protein
MVKRKSSEGQEQDGGRGIPLPIQTFLWRQTSAFLRPKLGKQYEASCVSFERVLVENKLHGLSPALSEAIQSISRWELVQAALPHVLHCTATLLSNRNKLGHQDKL
GVAETKLLHTLHWMLLEAPQDCNNERFGGTDRGSSWGGSSSAFIHQVENQGSPGQPCQSSSNDEEENNRRKIFQNSMATVELFVFLFAPLVHRIKESDLTFRLAS
GLVIWQPMWEHRQPGVSGFTALVKPIRNIITAKRSSPINSQSRTCESPNQDARHLEGLQVVCETFQSDSISPKATISGCHRGNSFDGSLSSQTSQERGPSHSRAS
LVIPPCQRSRYATYFDVAVLRCLLQPHWSEEGTQWSLMYYLQRLRHMLEEKPEKPPEPDIPLLPRPRSSSMVAAAPSLVNTHKTQDLTMKCNEEEKSLSSEAFSK
VSLTNLRRSAVPDLSSDLGMNIFKKFKSRKEDRERKGSIPFHHTGKRRPRRMGVPFLLHEDHLDVSPTRSTFSFGSFSGLGEDRRGIEKGGWQTTILGKLTRRGS
Show »

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 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 2 (5)
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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Jang DH, 2015 - aCGH--autistic - - - - 1 - 1
Linkage Studies Top