AutismKB 2.0

Evidence Details for ANKHD1-EIF4EBP3


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Basic Information Top
Gene Symbol:ANKHD1-EIF4EBP3 ( MASK-BP3,MASK-BP3ARF )
Gene Full Name: ANKHD1-EIF4EBP3 readthrough
Band: 5q31.3
Quick LinksEntrez ID:404734; OMIM: NA; Uniprot ID:Q8IWZ2_HUMAN; ENSEMBL ID: ENSG00000131503,ENSG00000249536; HGNC ID: 33530
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKHD1-EIF4EBP3|404734|nucleotide
ATGCTGACTGATAGCGGAGGCGGCGGCACCTCCTTTGAGGAGGACCTGGACTCTGTGGCTCCGCGATCCGCCCCAGCTGGGGCCTCGGAGCCGCCTCCGCCGGGA
GGGGTCGGTCTGGGGATCCGCACCGTGAGGCTCTTTGGGGAGGCCGGGCCAGCGTCGGGAGTCGGCAGCAGCGGCGGCGGCGGCAGCGGCAGCGGTACGGGCGGA
GGGGACGCGGCGCTGGATTTCAAGTTGGCGGCTGCCGTGCTGAGGACCGGGGGTGGAGGTGGTGCCTCTGGCAGTGACGAGGACGAAGTGTCCGAGGTTGAATCA
TTTATTTTGGACCAAGAAGATCTGGATAACCCAGTGCTTAAAACAACATCAGAGATATTCTTATCAAGTACTGCAGAAGGAGCAGACTTACGCACTGTGGATCCA
GAGACACAGGCACGACTAGAAGCATTGCTAGAAGCAGCAGGAATTGGCAAATTGTCAACTGCTGATGGTAAAGCTTTTGCAGATCCTGAGGTACTCCGGAGACTG
ACATCCTCAGTTAGTTGTGCACTGGATGAAGCTGCTGCTGCACTGACACGGATGAAAGCAGAAAACAGCCACAATGCAGGACAAGTGGACACTCGCAGTCTAGCA
GAAGCTTGTTCAGATGGGGATGTTAATGCTGTTCGTAAATTGCTAGATGAAGGCAGAAGTGTAAATGAACATACAGAAGAAGGAGAAAGCCTGCTGTGTTTGGCT
TGTTCAGCAGGGTATTATGAATTAGCACAAGTATTGCTTGCTATGCATGCTAATGTTGAAGATCGAGGGAATAAAGGAGACATAACTCCCCTGATGGCAGCTTCC
AGTGGAGGTTACTTAGATATTGTGAAATTATTACTTCTTCATGATGCTGATGTCAACTCCCAGTCTGCAACAGGAAACACTGCGCTAACTTATGCATGTGCTGGA
GGATTTGTTGACATTGTTAAAGTGCTCCTTAATGAAGGTGCAAATATAGAAGATCATAATGAAAATGGACATACTCCCTTAATGGAAGCAGCCAGTGCAGGTCAT
GTGGAAGTTGCAAGAGTTCTTTTAGATCATGGTGCAGGCATCAACACTCATTCTAATGAATTCAAAGAAAGTGCTCTAACACTTGCTTGCTACAAAGGCCATTTG
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>ANKHD1-EIF4EBP3|404734|protein
MLTDSGGGGTSFEEDLDSVAPRSAPAGASEPPPPGGVGLGIRTVRLFGEAGPASGVGSSGGGGSGSGTGGGDAALDFKLAAAVLRTGGGGGASGSDEDEVSEVES
FILDQEDLDNPVLKTTSEIFLSSTAEGADLRTVDPETQARLEALLEAAGIGKLSTADGKAFADPEVLRRLTSSVSCALDEAAAALTRMKAENSHNAGQVDTRSLA
EACSDGDVNAVRKLLDEGRSVNEHTEEGESLLCLACSAGYYELAQVLLAMHANVEDRGNKGDITPLMAASSGGYLDIVKLLLLHDADVNSQSATGNTALTYACAG
GFVDIVKVLLNEGANIEDHNENGHTPLMEAASAGHVEVARVLLDHGAGINTHSNEFKESALTLACYKGHLDMVRFLLEAGADQEHKTDEMHTALMEACMDGHVEV
ARLLLDSGAQVNMPADSFESPLTLAACGGHVELAALLIERGANLEEVNDEGYTPLMEAAREGHEEMVALLLAQGANINAQTEETQETALTLACCGGFSEVADFLI
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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