AutismKB 2.0

Evidence Details for HPCAL1


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Basic Information Top
Gene Symbol:HPCAL1 ( BDR1,HLP2,VILIP-3 )
Gene Full Name: hippocalcin-like 1
Band: 2p25.1
Quick LinksEntrez ID:3241; OMIM: 600207; Uniprot ID:HPCL1_HUMAN; ENSEMBL ID: ENSG00000115756; HGNC ID: 5145
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HPCAL1|3241|nucleotide
ATGGGCAAACAGAACAGCAAGCTGCGGCCCGAGGTGCTGCAGGACCTGCGGGAGAACACGGAGTTCACCGACCACGAGCTGCAGGAGTGGTACAAGGGCTTCCTC
AAGGACTGCCCCACCGGCCACCTGACCGTGGACGAGTTCAAGAAGATCTACGCCAACTTCTTCCCCTACGGCGACGCTTCCAAGTTCGCCGAGCACGTCTTCCGC
ACCTTCGACACCAACGGCGACGGCACCATCGACTTCCGGGAGTTCATCATTGCGCTGAGCGTGACCTCGCGGGGCAAGCTGGAGCAGAAGCTCAAGTGGGCCTTC
AGCATGTACGACCTGGACGGCAACGGCTACATCAGCCGCAGCGAGATGCTGGAGATCGTGCAGGCCATCTACAAGATGGTGTCGTCTGTGATGAAGATGCCGGAG
GATGAGTCCACCCCGGAGAAGCGCACAGACAAGATCTTCAGGCAGATGGACACCAACAATGACGGCAAACTGTCCTTGGAAGAATTCATCAGAGGTGCCAAGAGC
GACCCCTCCATCGTCCGCCTGCTGCAGTGCGACCCCAGCAGTGCCAGTCAGTTCTGA





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>HPCAL1|3241|protein
MGKQNSKLRPEVLQDLRENTEFTDHELQEWYKGFLKDCPTGHLTVDEFKKIYANFFPYGDASKFAEHVFRTFDTNGDGTIDFREFIIALSVTSRGKLEQKLKWAF
SMYDLDGNGYISRSEMLEIVQAIYKMVSSVMKMPEDESTPEKRTDKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF



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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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 microarrayautism, ASD 912 - 912 - - 1488 1488
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top