AutismKB 2.0

Evidence Details for ELSPBP1


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Basic Information Top
Gene Symbol:ELSPBP1 ( E12,EDDM12,HE12 )
Gene Full Name: epididymal sperm binding protein 1
Band: 19q13.33
Quick LinksEntrez ID:64100; OMIM: 607443; Uniprot ID:ESPB1_HUMAN; ENSEMBL ID: ENSG00000169393; HGNC ID: 14417
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELSPBP1|64100|nucleotide
ATGACCCGATGGTCCAGTTACCTGTTGGGATGGACAACCTTCCTTCTCTATTCCTATGAGTCAAGTGGAGGGATGCATGAGGAATGTGTCTTTCCTTTCACCTAC
AAGGGATCTGTTTACTTCACTTGCACCCATATTCATAGCTTATCCCCTTGGTGTGCCACCAGAGCCGTGTACAACGGCCAGTGGAAGTACTGCCAGAGTGAAGAT
TACCCACGCTGTATCTTCCCTTTCATCTATCGAGGAAAGGCTTATAACAGCTGCATCTCCCAGGGCAGCTTCTTAGGCAGTCTGTGGTGCTCAGTCACCTCTGTC
TTCGATGAGAAACAGCAGTGGAAATTCTGTGAAACGAATGAGTATGGGGGAAATTCTCTCAGGAAGCCCTGCATCTTCCCCTCCATCTACAGAAATAATGTGGTC
TCTGATTGCATGGAGGATGAAAGCAACAAGCTCTGGTGCCCAACCACAGAGAACATGGATAAGGATGGAAAGTGGAGTTTCTGTGCCGACACCAGAATTTCCGCG
TTGGTCCCTGGCTTTCCTTGTCACTTTCCGTTCAACTATAAAAACAAGAATTATTTTAACTGCACTAACGAAGGATCAAAGGAGAACCTTGTGTGGTGTGCAACT
TCTTACAACTACGACCAAGACCACACCTGGGTGTATTGCTGA




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>ELSPBP1|64100|protein
MTRWSSYLLGWTTFLLYSYESSGGMHEECVFPFTYKGSVYFTCTHIHSLSPWCATRAVYNGQWKYCQSEDYPRCIFPFIYRGKAYNSCISQGSFLGSLWCSVTSV
FDEKQQWKFCETNEYGGNSLRKPCIFPSIYRNNVVSDCMEDESNKLWCPTTENMDKDGKWSFCADTRISALVPGFPCHFPFNYKNKNYFNCTNEGSKENLVWCAT
SYNYDQDHTWVYC


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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top