AutismKB 2.0

Evidence Details for CRYM


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Basic Information Top
Gene Symbol:CRYM ( DFNA40,THBP )
Gene Full Name: crystallin, mu
Band: 16p12.2
Quick LinksEntrez ID:1428; OMIM: 123740; Uniprot ID:CRYM_HUMAN; ENSEMBL ID: ENSG00000103316; HGNC ID: 2418
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CRYM|1428|nucleotide
ATGCAGCCCGTGCGCACCGTGGTGCCGGTGACCAAGCACAGGGGCTACCTGGGGGTCATGCCCGCCTACAGTGCTGCAGAGGATGCACTGACCACCAAGTTGGTC
ACCTTCTACGAGGACCGCGGCATCACCTCGGTCGTCCCTTCCCACCAGGCTACTGTGCTACTCTTTGAGCCCAGCAATGGCACCCTGCTGGCGGTCATGGATGGA
AATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGTTTCTGAAACCTCCCAGCAGTGAAGTGCTGTGCATCCTTGGGGCTGGGGTCCAG
GCCTACAGCCATTATGAGATCTTCACAGAGCAGTTCTCCTTTAAGGAGGTGAGGATATGGAACCGCACCAAAGAAAATGCAGAGAAGTTTGCAGACACAGTGCAA
GGAGAGGTACGGGTCTGTTCTTCGGTCCAGGAGGCTGTGGCAGGTGCAGATGTGATCATCACAGTCACCCTGGCAACAGAGCCCATTTTGTTTGGTGAATGGGTG
AAGCCAGGGGCTCACATCAATGCTGTTGGAGCCAGCAGACCTGACTGGAGAGAACTGGATGATGAGCTCATGAAAGAAGCTGTGCTGTACGTGGATTCCCAGGAG
GCTGCCCTGAAGGAGTCTGGAGATGTCCTGCTGTCAGGGGCCGAGATCTTTGCTGAGCTGGGAGAAGTGATTAAGGGAGTGAAACCAGCCCACTGTGAGAAGACC
ACCGTGTTCAAGTCTTTGGGAATGGCAGTGGAAGACACAGTTGCAGCCAAACTCATCTATGATTCCTGGTCATCTGGTAAATAA



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>CRYM|1428|protein
MQPVRTVVPVTKHRGYLGVMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFEPSNGTLLAVMDGNVITAKRTAAVSAIATKFLKPPSSEVLCILGAGVQ
AYSHYEIFTEQFSFKEVRIWNRTKENAEKFADTVQGEVRVCSSVQEAVAGADVIITVTLATEPILFGEWVKPGAHINAVGASRPDWRELDDELMKEAVLYVDSQE
AALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTTVFKSLGMAVEDTVAAKLIYDSWSSGK


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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 (1) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top