AutismKB 2.0

Evidence Details for LBR


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Basic Information Top
Gene Symbol:LBR ( DHCR14B,FLJ43126,LMN2R,MGC9041,PHA )
Gene Full Name: lamin B receptor
Band: 1q42.12
Quick LinksEntrez ID:3930; OMIM: 600024; Uniprot ID:LBR_HUMAN; ENSEMBL ID: ENSG00000143815; HGNC ID: 6518
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LBR|3930|nucleotide
ATGCCAAGTAGGAAATTTGCCGATGGTGAAGTGGTAAGAGGTCGATGGCCTGGGAGTTCACTTTATTATGAAGTAGAAATTCTGAGCCACGACAGCACCTCCCAG
CTTTACACTGTGAAGTATAAAGATGGAACAGAGCTTGAATTGAAAGAGAATGATATTAAGCCTTTAACTTCCTTTAGGCAAAGGAAAGGTGGCTCAACTTCCAGT
TCCCCTTCCAGACGCCGAGGGAGTCGATCAAGGTCACGCTCCCGATCCCCTGGTCGACCACCTAAAAGTGCCCGCCGATCTGCTTCTGCTTCCCACCAGGCCGAC
ATTAAGGAAGCAAGGAGGGAAGTGGAAGTTAAATTGACTCCGCTGATTCTGAAGCCATTTGGAAATAGCATCAGCAGATATAATGGGGAGCCTGAGCATATTGAG
AGAAATGACGCACCTCATAAAAATACACAGGAAAAATTCAGTTTGTCACAAGAAAGCAGTTACATAGCAACACAGTATAGCCTTCGTCCAAGAAGAGAAGAAGTC
AAATTAAAAGAAATAGATTCTAAGGAAGAAAAATACGTTGCAAAAGAACTGGCAGTGAGAACCTTTGAAGTGACCCCCATCCGGGCAAAGGACTTGGAGTTTGGA
GGAGTACCTGGTGTGTTTCTCATCATGTTTGGCCTGCCTGTGTTCCTCTTCCTGTTGCTGTTGATGTGTAAACAGAAAGATCCCAGTCTTCTGAATTTCCCTCCT
CCTTTGCCAGCTTTGTATGAGTTATGGGAAACCAGAGTATTTGGGGTCTACCTCCTGTGGTTTTTGATTCAAGTCCTGTTCTACCTACTGCCAATTGGAAAGGTT
GTAGAAGGAACGCCTCTTATTGATGGAAGAAGACTCAAGTATAGATTAAATGGATTCTATGCTTTTATCCTGACATCTGCAGTCATCGGAACATCTCTCTTCCAG
GGCGTAGAGTTTCATTACGTGTACAGTCATTTTCTTCAGTTTGCACTTGCGGCCACTGTTTTTTGTGTGGTCTTGAGTGTGTATCTCTACATGCGCTCTTTGAAA
GCGCCCCGGAATGACCTGTCGCCTGCCAGCTCTGGAAATGCTGTCTATGATTTCTTCATTGGCCGTGAATTAAACCCTCGAATTGGTACTTTTGATCTCAAATAC
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>LBR|3930|protein
MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSFRQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQAD
IKEARREVEVKLTPLILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFG
GVPGVFLIMFGLPVFLFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFYAFILTSAVIGTSLFQ
GVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPASSGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPNEVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKT
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top