AutismKB 2.0

Evidence Details for ITPRIPL1


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Basic Information Top
Gene Symbol:ITPRIPL1 ( KIAA1754L )
Gene Full Name: inositol 1,4,5-triphosphate receptor interacting protein-like 1
Band: 2q11.2
Quick LinksEntrez ID:150771; OMIM: NA; Uniprot ID:IPIL1_HUMAN; ENSEMBL ID: ENSG00000198885; HGNC ID: 29371
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITPRIPL1|150771|nucleotide
ATGAATGTTGATGCAGAGGCCTCCATGGCTGTGATAAGCCTGCTGTTCTTGGCAGTGATGTATGTTGTTCACCACCCTCTGATGGTCAGTGATCGGATGGACCTG
GACACATTAGCCAGGAGTCGGCAGCTGGAGAAGCGAATGAGTGAGGAGATGCGCCTGCTAGAGATGGAGTTTGAAGAGAGAAAGCGAGCCGCTGAGCAGAGGCAG
AAGGCAGAGAACTTCTGGACAGGAGACACATCCAGTGACCAGTTAGTGCTGGGGAAGAAAGACATGGGGTGGCCGTTCCAGGCCGATGGCCAGGAAGGGCCTCTG
GGCTGGATGCTGGGAAACCTGTGGAACACTGGCCTCTTTTGCCTTTTTCTCGTCTTTGAGCTCCTGCGACAGAACATGCAGCATGAACCGGCCTTTGATTCCAGC
AGTGAGGAGGAGGAGGAGGAAGTCCGTGTTGTCCCTGTCACCTCTTACAACTGGCTTACTGACTTCCCCTCCCAGGAGGCCCTGGACTCCTTTTACAAACACTAT
GTCCAAAATGCCATCCGTGACCTGCCCTGCACCTGTGAGTTTGTGGAGAGTTTTGTGGATGATCTCATTGAGGCCTGTCGGGTGCTCAGCCGCCAAGAGGCTCAC
CCACAATTGGAAGACTGCCTGGGCATCGGGGCTGCCTTTGAGAAATGGGGAACCCTCCATGAGACCCAGAAATTTGATATCCTGGTGCCCATTGTCCCCCCACAG
GGCACCATGTTTGTCCTGGAGATGAGGGACCCAGCCCTGGGCCGCCGCTGTGGCTGTGTGCTGGTGGAGTCAGAATGTGTGTGCAAGCGTGAGAAACTCCTAGGG
GACGTGCTGTGCCTGGTGCACCACCACAGGGACCCCTCGGCAGTCTTGGGGAAGTGTAGTAGCTCCATCAAGGCAGCTCTCTGCACCGGCTTCCACCTAGACGTG
TGCAAGACTGTGCAGTGGTTCCGGAACATGATGGGCAATGCCTGGGCCCTTGTGGCCCACAAGTATGACTTTAAACTCAGTCTCCCACCGTCTACCACCTCCTGC
AAGCTCCGGCTGGACTATCGCTCAGGCCGCTTTCTCTCAATCCACTTGGTCCTGGGGGTGCAACGAGAAGACACCTTGGTCTACCTGGTGAGTCAGGCTCCTGAC
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>ITPRIPL1|150771|protein
MNVDAEASMAVISLLFLAVMYVVHHPLMVSDRMDLDTLARSRQLEKRMSEEMRLLEMEFEERKRAAEQRQKAENFWTGDTSSDQLVLGKKDMGWPFQADGQEGPL
GWMLGNLWNTGLFCLFLVFELLRQNMQHEPAFDSSSEEEEEEVRVVPVTSYNWLTDFPSQEALDSFYKHYVQNAIRDLPCTCEFVESFVDDLIEACRVLSRQEAH
PQLEDCLGIGAAFEKWGTLHETQKFDILVPIVPPQGTMFVLEMRDPALGRRCGCVLVESECVCKREKLLGDVLCLVHHHRDPSAVLGKCSSSIKAALCTGFHLDV
CKTVQWFRNMMGNAWALVAHKYDFKLSLPPSTTSCKLRLDYRSGRFLSIHLVLGVQREDTLVYLVSQAPDQEQLTSVDWPESFVACEHLFLKLVGRFAPENTCHL
KCLQIILSLRQHQSLPHGASRPILTSYHFKTALMHLLLRLPLTDWAHNMLSQRLQDILWFLGRGLQQRSLHHFLIGNNFLPLTIPIPKTFRNAEPVNLFQHLVLN
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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