AutismKB 2.0

Evidence Details for ANKRD50


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Basic Information Top
Gene Symbol:ANKRD50 ( KIAA1223 )
Gene Full Name: ankyrin repeat domain 50
Band: 4q28.1
Quick LinksEntrez ID:57182; OMIM: NA; Uniprot ID:ANR50_HUMAN; ENSEMBL ID: ENSG00000151458; HGNC ID: 29223
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKRD50|57182|nucleotide
ATGAAGCCTCCCCAGCAAAGCCTATACCTGCTTGTTGATTCTGTTGATGAAGGGTGTAACATTACTGAAGGTGAACAAACGTCTACCAGCTTATCTGGGACTGTT
GCAGCACTTTTAGCTGGTCACCATGAGTTCTTTCCACCATGGCTATTGCTTCTCTGTTCTGCCCGAAAGCAGAGTAAGGCTGTTACTAAAATGTTTACTGGTTTT
CGAAAAATAAGTTTAGATGACCTTCGGAAGGCATATATCGTCAAGGATGTTCAGCAGTACATTCTTCATCGTTTAGATCAAGAAGAAGCTTTGCGACAACACCTC
ACAAAAGAAACTGCAGAGATGTTAAATCAACTGCACATTAAAAGCAGTGGATGCTTTCTTTACCTAGAACGAGTTTTAGATGGAGTTGTAGAAAATTTTATTATG
TTAAGAGAAATTCGTGACATCCCAGGAACTCTAAATGGTTTATATCTCTGGCTGTGCCAAAGACTTTTTGTAAGAAAACAATTTGCAAAGGTTCAGCCTATTTTG
AATGTGATTCTTGCAGCCTGCCGACCTTTGACCATAACGGAATTATATCACGCAGTATGGACCAAAAACATGTCGTTAACTTTGGAAGATTTTCAACGCAAGTTA
GATATCCTCTCCAAACTTCTTGTTGATGGACTAGGAAATACAAAAATACTGTTTCATTATAGTTTTGCCGAGTGGCTTCTGGATGTGAAACACTGTACTCAGAAG
TATTTATGTAATGCAGCAGAAGGACACAGAATGTTGGCTATGAGTTATACCTGTCAAGCCAAGAATTTAACACCATTGGAAGCACAAGAATTTGCATTGCACTTA
ATTAACTCAAACTTACAATTAGAGACAGCGGAGTTAGCTCTGTGGATGATATGGAATGGTACACCTGTCAGAGATTCCCTTTCTACTTTGATACCCAAGGAACAA
GAAGTGCTACAGCTGTTGGTTAAAGCTGGGGCTCATGTCAACAGTGAAGACGATCGCACATCATGCATAGTTCGACAAGCCTTAGAAAGAGAGGATTCCATTCGG
ACATTATTAGATAATGGAGCTTCAGTAAATCAGTGTGATTCAAATGGGAGAACATTATTGGCTAATGCTGCATATAGTGGCAGTCTTGATGTAGTCAATTTACTT
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>ANKRD50|57182|protein
MKPPQQSLYLLVDSVDEGCNITEGEQTSTSLSGTVAALLAGHHEFFPPWLLLLCSARKQSKAVTKMFTGFRKISLDDLRKAYIVKDVQQYILHRLDQEEALRQHL
TKETAEMLNQLHIKSSGCFLYLERVLDGVVENFIMLREIRDIPGTLNGLYLWLCQRLFVRKQFAKVQPILNVILAACRPLTITELYHAVWTKNMSLTLEDFQRKL
DILSKLLVDGLGNTKILFHYSFAEWLLDVKHCTQKYLCNAAEGHRMLAMSYTCQAKNLTPLEAQEFALHLINSNLQLETAELALWMIWNGTPVRDSLSTLIPKEQ
EVLQLLVKAGAHVNSEDDRTSCIVRQALEREDSIRTLLDNGASVNQCDSNGRTLLANAAYSGSLDVVNLLVSRGADLEIEDAHGHTPLTLAARQGHTKVVNCLIG
CGANINHTDQDGWTALRSAAWGGHTEVVSALLYAGVKVDCADADSRTALRAAAWGGHEDIVLNLLQHGAEVNKADNEGRTALIAAAYMGHREIVEHLLDHGAEVN
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top