AutismKB 2.0

Evidence Details for CAMSAP1


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Basic Information Top
Gene Symbol:CAMSAP1 ( DKFZp434F195,DKFZp434G2311,FLJ31228,MGC163452,PRO2405,bA100C15.1 )
Gene Full Name: calmodulin regulated spectrin-associated protein 1
Band: 9q34.3
Quick LinksEntrez ID:157922; OMIM: NA; Uniprot ID:CAMP1_HUMAN; ENSEMBL ID: ENSG00000130559; HGNC ID: 19946
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAMSAP1|157922|nucleotide
ATGGTGGACGCGAGCGGCCGCGCCGCCGCCGAGGGCTGGAGGAAGATGGAGGCCCCGCCGGACGGCGCCGCCGACCTCGTGCCCCTGGACCGCTACGACGCGGCG
CGCGCCAAGATCGCCGCCAACCTGCAGTGGATCTGCGCCAAGGCCTACGGCCGAGATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAG
CAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAG
GGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAA
ATGAGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATCAGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTC
AGTGCCTCGAAAGAACTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAGGTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTA
AAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAGGTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTGTTGGAGGATTTGATG
AGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTATTATTGCCCAGAGCAGATGAAACTGGATGATATATGCTTAAAGGAGGTAACGTCGATGGCC
GACAGTCTGTATAATATTCGGCTTCTGAGAGAATTCTCCAATGAATATCTTAATAAATGTTTTTATCTCACCTTGGAAGATATGCTGTATGCGCCATTAGTGTTG
AAGCCGAATGTTATGGTTTTTATTGCGGAGCTTTTTTGGTGGTTCGAGAATGTCAAGCCAGATTTTGTTCAGCCCAGGGATGTTCAGGAGCTGAAAGACGCGAAA
ACAGTGTTACACCAGAAGAGCAGCCGGCCTCCTGTACCGATCTCCAACGCGACCAAACGCAGTTTCCTAGGCAGCCCTGCTGCAGGGACCCTGGCTGAGCTGCAG
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>CAMSAP1|157922|protein
MVDASGRAAAEGWRKMEAPPDGAADLVPLDRYDAARAKIAANLQWICAKAYGRDNIPEDLRDPFYVDQYEQEHIKPPVIKLLLSSELYCRVCSLILKGDQVAALQ
GHQSVIQALSRKGIYVMESDDTPVTESDLSRAPIKMSAHMAMVDALMMAYTVEMISIEKVVASVKRFSTFSASKELPYDLEDAMVFWINKVNLKMREITEKEVKL
KQQLLESPAHQKVRYRREHLSARQSPYFPLLEDLMRDGSDGAALLAVIHYYCPEQMKLDDICLKEVTSMADSLYNIRLLREFSNEYLNKCFYLTLEDMLYAPLVL
KPNVMVFIAELFWWFENVKPDFVQPRDVQELKDAKTVLHQKSSRPPVPISNATKRSFLGSPAAGTLAELQPPVQLPAEGCHRHYLHPEEPEYLGKGTAAFSPSHP
LLPLRQKQQKSIQGEDIPDQRHRSNSLTRVDGQPRGAAIAWPEKKTRPASQPTPFALHHAASCEVDPSSGDSISLARSISKDSLASNIVNLTPQNQPHPTATKSH
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Evidence summary Top

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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) 0 (2) 1 (3) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (7)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top