AutismKB 2.0

Evidence Details for RTN4IP1


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Basic Information Top
Gene Symbol:RTN4IP1 ( MGC12934,NIMP )
Gene Full Name: reticulon 4 interacting protein 1
Band: 6q21
Quick LinksEntrez ID:84816; OMIM: 610502; Uniprot ID:RT4I1_HUMAN; ENSEMBL ID: ENSG00000130347; HGNC ID: 18647
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RTN4IP1|84816|nucleotide
ATGGAATTTCTGAAGACTTGTGTACTTAGAAGAAATGCATGCACTGCGGTTTGCTTCTGGAGAAGCAAAGTTGTCCAAAAGCCTTCAGTTAGAAGGATTAGTACT
ACCTCTCCTAGGAGCACTGTCATGCCTGCTTGGGTGATAGATAAATATGGGAAGAATGAAGTGCTTCGATTCACTCAGAACATGATGATGCCTATCATACACTAT
CCAAATGAAGTCATTGTCAAAGTTCACGCTGCCAGTGTAAATCCTATAGACGTTAATATGAGAAGTGGTTATGGAGCTACAGCTTTAAATATGAAGCGTGATCCT
TTACACGTGAAAATCAAAGGAGAAGAATTTCCTCTGACTCTGGGTCGGGATGTCTCTGGCGTGGTGATGGAATGTGGGCTTGATGTGAAATACTTCAAGCCTGGA
GATGAGGTCTGGGCTGCAGTTCCTCCTTGGAAACAAGGCACTCTTTCAGAGTTTGTTGTAGTCAGTGGGAATGAGGTCTCTCACAAACCCAAATCACTCACTCAT
ACTCAAGCTGCCTCTTTGCCATATGTGGCTCTCACAGCCTGGTCTGCTATAAACAAAGTTGGTGGCCTGAATGACAAGAATTGCACAGGAAAACGTGTTCTAATC
TTAGGCGCTTCAGGCGGAGTTGGTACTTTTGCTATACAGGTAATGAAAGCATGGGATGCTCATGTGACAGCAGTTTGCTCCCAAGATGCCAGTGAACTTGTAAGG
AAGCTTGGTGCAGACGATGTAATTGATTACAAATCTGGAAGTGTGGAAGAGCAGTTGAAATCCTTAAAACCATTTGATTTTATCCTTGATAATGTTGGCGGATCC
ACTGAAACATGGGCTCCAGATTTTCTCAAGAAATGGTCAGGAGCCACCTATGTGACTTTGGTGACTCCTTTCCTCCTGAACATGGACCGATTGGGCATAGCAGAT
GGCATGTTGCAGACAGGAGTCACTGTAGGTTCAAAGGCATTAAAGCATTTCTGGAAAGGAGTCCATTATCGCTGGGCATTTTTCATGGCCAGTGGCCCATGTTTA
GATGACATTGCAGAACTGGTGGATGCGGGAAAGATCCGGCCAGTTATTGAACAAACCTTTCCTTTTTCTAAAGTTCCAGAAGCCTTCCTGAAGGTGGAAAGAGGA
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>RTN4IP1|84816|protein
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHAASVNPIDVNMRSGYGATALNMKRDP
LHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLI
LGASGGVGTFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIAD
GMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top