AutismKB 2.0

Evidence Details for LTBP1


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Basic Information Top
Gene Symbol:LTBP1 ( MGC163161 )
Gene Full Name: latent transforming growth factor beta binding protein 1
Band: 2p22.3
Quick LinksEntrez ID:4052; OMIM: 150390; Uniprot ID:LTBP1_HUMAN; ENSEMBL ID: ENSG00000049323; HGNC ID: 6714
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LTBP1|4052|nucleotide
ATGGATACTAAGCTGATGTGTTTGTTGTTCTTTTTCTCCCTGCCTCCGCTCCTAGTGAGTAACCACACTGGCCGCATCAAGGTGGTCTTTACTCCGAGCATCTGT
AAAGTGACCTGCACCAAGGGCAGCTGTCAGAACAGCTGTGAGAAGGGGAACACCACCACTCTCATTAGTGAGAATGGTCATGCTGCCGACACCCTGACGGCCACG
AACTTCCGAGTGGTAATTTGCCATCTTCCATGTATGAATGGTGGCCAGTGCAGTTCAAGGGACAAATGTCAGTGCCCTCCAAATTTCACAGGAAAACTTTGTCAG
ATCCCAGTCCATGGTGCCAGCGTGCCTAAACTTTATCAGCATTCCCAGCAGCCAGGCAAGGCGTTGGGGACGCATGTCATCCATTCAACACATACCTTGCCTCTG
ACCGTGACTAGCCAGCAAGGAGTCAAAGTGAAATTTCCTCCTAACATAGTCAATATCCATGTGAAACATCCTCCTGAAGCTTCCGTCCAGATACATCAGGTTTCA
AGAATTGATGGCCCAACAGGCCAGAAGACAAAAGAAGCTCAACCAGGCCAATCCCAAGTCTCGTACCAAGGGCTTCCTGTCCAGAAGACCCAGACCATACATTCC
ACATACTCCCACCAGCAGGTCATTCCTCACGTCTACCCCGTGGCTGCTAAGACACAGCTTGGCCGGTGCTTCCAGGAAACCATTGGGTCACAGTGTGGCAAAGCG
CTCCCTGGCCTTTCAAAGCAAGAGGACTGCTGTGGAACTGTGGGTACCTCCTGGGGCTTTAACAAATGCCAGAAATGCCCCAAGAAACCATCTTATCATGGATAC
AACCAAATGATGGAATGCCTACCGGGTTATAAGCGGGTTAACAACACCTTTTGCCAAGATATTAATGAATGTCAGCTACAAGGTGTATGCCCTAATGGTGAGTGT
TTGAATACCATGGGCAGCTATCGATGTACCTGCAAAATAGGATTTGGGCCGGATCCTACCTTTTCAAGTTGTGTTCCTGATCCCCCTGTGATCTCGGAAGAGAAA
GGGCCCTGTTACCGACTTGTCAGTTCTGGAAGACAGTGTATGCACCCTCTGTCTGTTCACCTCACCAAGCAGCTCTGCTGTTGTAGTGTGGGCAAGGCCTGGGGC
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>LTBP1|4052|protein
MDTKLMCLLFFFSLPPLLVSNHTGRIKVVFTPSICKVTCTKGSCQNSCEKGNTTTLISENGHAADTLTATNFRVVICHLPCMNGGQCSSRDKCQCPPNFTGKLCQ
IPVHGASVPKLYQHSQQPGKALGTHVIHSTHTLPLTVTSQQGVKVKFPPNIVNIHVKHPPEASVQIHQVSRIDGPTGQKTKEAQPGQSQVSYQGLPVQKTQTIHS
TYSHQQVIPHVYPVAAKTQLGRCFQETIGSQCGKALPGLSKQEDCCGTVGTSWGFNKCQKCPKKPSYHGYNQMMECLPGYKRVNNTFCQDINECQLQGVCPNGEC
LNTMGSYRCTCKIGFGPDPTFSSCVPDPPVISEEKGPCYRLVSSGRQCMHPLSVHLTKQLCCCSVGKAWGPHCEKCPLPGTAAFKEICPGGMGYTVSGVHRRRPI
HHHVGKGPVFVKPKNTQPVAKSTHPPPLPAKEEPVEALTFSREHGPGVAEPEVATAPPEKEIPSLDQEKTKLEPGQPQLSPGISTIHLHPQFPVVIEKTSPPVPV
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (4)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top