AutismKB 2.0

Evidence Details for CUBN


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Basic Information Top
Gene Symbol:CUBN ( FLJ90055,FLJ90747,IFCR,MGA1,gp280 )
Gene Full Name: cubilin (intrinsic factor-cobalamin receptor)
Band: 10p13
Quick LinksEntrez ID:8029; OMIM: 602997; Uniprot ID:CUBN_HUMAN; ENSEMBL ID: ENSG00000107611; HGNC ID: 2548
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CUBN|8029|nucleotide
ATGATGAACATGTCTTTACCTTTTCTTTGGAGTTTGCTTACCTTATTAATATTTGCTGAAGTAAATGGCGAAGCTGGAGAACTTGAGCTGCAGAGACAAAAAAGA
AGCATCAATCTCCAACAGCCTCGAATGGCTACAGAGAGAGGAAATTTGGTGTTTCTTACGGGGTCTGCTCAAAACATTGAGTTTAGAACCGGATCCCTGGGAAAA
ATTAAATTAAATGATGAAGATCTCAGTGAGTGTTTACATCAGATCCAGAAAAACAAAGAAGATATTATAGAGTTAAAAGGGAGTGCAATTGGTCTGCCTCAAAAT
ATATCTAGTCAAATCTATCAGCTTAATTCCAAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGACTGTTGACAAAAAGGTTTGCAGCAGCAATCCT
TGCCAGAATGGTGGAACCTGCCTCAATCTGCATGATTCCTTTTTTTGTATCTGTCCCCCACAGTGGAAGGGTCCTCTCTGCTCAGCTGATGTTAACGAATGTGAG
ATTTACTCAGGAACACCCTTGAGCTGCCAGAATGGAGGCACATGTGTTAATACAATGGGAAGTTACAGTTGTCACTGCCCACCTGAGACGTACGGACCCCAGTGT
GCATCCAAATATGACGACTGTGAAGGGGGTTCTGTGGCACGCTGTGTCCATGGCATCTGTGAGGATTTAATGCGAGAGCAAGCTGGAGAGCCCAAGTACAGCTGC
GTCTGTGATGCTGGGTGGATGTTTTCACCCAACAGCCCTGCCTGCACGCTGGACAGAGACGAGTGCAGCTTCCAGCCCGGGCCTTGCTCCACACTTGTGCAGTGT
TTCAACACTCAAGGCTCTTTCTACTGTGGGGCCTGTCCAACAGGCTGGCAAGGCAATGGATATATTTGCGAAGATATCAATGAATGTGAGATAAATAACGGCGGC
TGTTCTGTGGCTCCACCCGTTGAGTGTGTGAATACACCTGGGTCTTCCCACTGCCAGGCCTGTCCACCAGGGTACCAGGGTGACGGAAGAGTGTGCACACTCACA
GACATCTGCTCAGTCAGTAATGGAGGCTGCCACCCAGATGCCTCATGCTCCTCAACTCTAGGTTCCTTACCTCTCTGCACGTGTCTCCCGGGTTATACTGGAAAT
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>CUBN|8029|protein
MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQNIEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQN
ISSQIYQLNSKLVDLERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYSCHCPPETYGPQC
ASKYDDCEGGSVARCVHGICEDLMREQAGEPKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNGYICEDINECEINNGG
CSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGCHPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC
DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSGINGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMD
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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 (2) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top