AutismKB 2.0

Evidence Details for CALU


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Basic Information Top
Gene Symbol:CALU ( FLJ90608 )
Gene Full Name: calumenin
Band: 7q32.1
Quick LinksEntrez ID:813; OMIM: 603420; Uniprot ID:CALU_HUMAN; ENSEMBL ID: ENSG00000128595; HGNC ID: 1458
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CALU|813|nucleotide
ATGGACCTGCGACAGTTTCTTATGTGCCTGTCCCTGTGCACAGCCTTTGCCTTGAGCAAACCCACAGAAAAGAAGGACCGTGTACATCATGAGCCTCAGCTCAGT
GACAAGGTTCACAATGATGCTCAGAGTTTTGATTATGACCATGATGCCTTCTTGGGTGCTGAAGAAGCAAAGACCTTTGATCAGCTGACACCAGAAGAGAGCAAG
GAAAGGCTTGGAATGATTGTAGATAAAATAGACGCGGATAAAGATGGGTTTGTGACGGAGGGGGAGCTGAAATCCTGGATTAAGCACGCCCAGAAGAAATACATA
TATGACAATGTTGAAAACCAATGGCAGGAGTTTGATATGAATCAAGACGGCTTAATCTCCTGGGATGAGTACAGAAACGTGACTTATGGCACTTACCTGGATGAT
CCAGATCCTGATGATGGATTTAACTATAAACAGATGATGGTTAGAGATGAGCGGAGGTTTAAAATGGCAGACAAGGATGGAGACCTCATTGCCACCAAGGAGGAG
TTCACAGCTTTCCTGCACCCTGAGGAGTATGACTACATGAAAGATATAGTAGTACAGGAAACAATGGAAGATATAGATAAGAATGCTGATGGTTTCATTGATCTA
GAAGAGTATATTGGTGACATGTACAGCCATGATGGGAATACTGATGAGCCAGAATGGGTAAAGACAGAGCGAGAGCAGTTTGTTGAGTTTCGGGATAAGAACCGT
GATGGGAAGATGGACAAGGAAGAGACCAAAGACTGGATCCTTCCCTCAGACTATGATCATGCAGAGGCAGAAGCCAGGCACCTGGTCTATGAATCAGACCAAAAC
AAGGATGGCAAGCTTACCAAGGAGGAGATCGTTGACAAGTATGACTTATTTGTTGGCAGCCAGGCCACAGATTTTGGGGAGGCCTTAGTACGGCATGATGAGTTC
TGA

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>CALU|813|protein
MDLRQFLMCLSLCTAFALSKPTEKKDRVHHEPQLSDKVHNDAQSFDYDHDAFLGAEEAKTFDQLTPEESKERLGMIVDKIDADKDGFVTEGELKSWIKHAQKKYI
YDNVENQWQEFDMNQDGLISWDEYRNVTYGTYLDDPDPDDGFNYKQMMVRDERRFKMADKDGDLIATKEEFTAFLHPEEYDYMKDIVVQETMEDIDKNADGFIDL
EEYIGDMYSHDGNTDEPEWVKTEREQFVEFRDKNRDGKMDKEETKDWILPSDYDHAEAEARHLVYESDQNKDGKLTKEEIVDKYDLFVGSQATDFGEALVRHDEF


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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 (0) 0 (0) 0 (0) 2 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top