AutismKB 2.0

Evidence Details for RLTPR


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Basic Information Top
Gene Symbol:RLTPR ( CARMIL2,CARMIL2b,LRRC16C )
Gene Full Name: RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing
Band: 16q22.1
Quick LinksEntrez ID:146206; OMIM: 610859; Uniprot ID:LR16C_HUMAN; ENSEMBL ID: ENSG00000159753; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RLTPR|146206|nucleotide
ATGGCCCAGACCCCCGACGGCATCTCCTGTGAGCTCCGAGGCGAGATCACCAGGTTCCTGTGGCCCAAAGAGGTGGAGCTGCTGCTGAAAACCTGGCTACCCGGG
GAGGGTGCTGTGCAAAACCATGTCCTGGCACTGCTACGATGGAGAGCCTACCTGCTGCACACCACCTGCCTCCCGCTGAGGGTGGACTGCACGTTCAGCTACCTG
GAGGTCCAGGCCATGGCGCTGCAGGAGACACCCCCTCAGGTCACCTTTGAGCTGGAGTCCCTGCGTGAGCTGGTCCTGGAGTTTCCTGGTGTGGCCGCCCTGGAA
CAGCTGGCCCAGCACGTGGCTGCAGCCATCAAGAAGGTCTTCCCTCGCTCGACCCTTGGGAAGCTATTCCGGAGGCCCACACCAGCCTCCATGCTGGCTCGGCTG
GAGAGAAGCAGCCCCTCGGAGTCCACTGACCCCTGCAGCCCCTGTGGTGGCTTCTTGGAGACATACGAGGCTCTGTGTGACTACAATGGCTTCCCTTTCCGAGAG
GAGATTCAGTGGGACGTGGACACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGGACCTGGCCTTGAGTGTG
GCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCA
CACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTC
AGCCTCGCGGGGAACCTGCTGGATGACCGAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGG
TTGACACCGCGAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTG
GGGGCCTCCGAGGACAGTGGGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGG
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>RLTPR|146206|protein
MAQTPDGISCELRGEITRFLWPKEVELLLKTWLPGEGAVQNHVLALLRWRAYLLHTTCLPLRVDCTFSYLEVQAMALQETPPQVTFELESLRELVLEFPGVAALE
QLAQHVAAAIKKVFPRSTLGKLFRRPTPASMLARLERSSPSESTDPCSPCGGFLETYEALCDYNGFPFREEIQWDVDTIYHRQGCRHFSLGDFSHLGSRDLALSV
AALSYNLWFRCLSCVDMKLSLEVSEQILHMMSQSSHLEELVLETCSLRGDFVRRLAQALAGHSSSGLRELSLAGNLLDDRGMTALSRHLERCPGALRRLSLAQTG
LTPRGMRALGRALATNAAFDSTLTHLDLSGNPGALGASEDSGGLYSFLSRPNVLSFLNLAGTDTALDTVRGCSVGGWMTGRADWRAGRGGLGPPAGVANSLPPQL
FAAVSRGCCTSLTHLDASRNVFSRTKSRAAPAALQLFLSRARTLRHLGLAGCKLPPDALRALLDGLALNTHLRDLHLDLSACELRSAGAQVIQDLVCDAGAVSSL
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top