AutismKB 2.0

Evidence Details for NFXL1


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Basic Information Top
Gene Symbol:NFXL1 ( FLJ16294,HOZFP,URCC5 )
Gene Full Name: nuclear transcription factor, X-box binding-like 1
Band: 4p12
Quick LinksEntrez ID:152518; OMIM: NA; Uniprot ID:NFXL1_HUMAN; ENSEMBL ID: ENSG00000170448; HGNC ID: 18726
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFXL1|152518|nucleotide
ATGGAAGCTTCCTGGCGCCAGGTGGCCGGTGGCCGAGGCCGATCCCGGGGACGGGCCACTGCCGCCCCCTCAGGAAATGGAGTCCATCTCCGCGGCGCCGGAGGA
GGGCGAGAGAAGGGGTCGGTGGGCGCAGTTCCTTCTGGCACCAGTCCCGGAGGAGTCGCGACCACGGCGGCTGCAGGGAGCAGGCACAGCCCCGCAGGATCCCAA
GCCCTGCAGACTACCGCAGCCAGCGAGCTAATGTCTCAGAAAAAATTTGAAGAAATCAAGAAAGCTAACCAAGCTGCAGCCAGAAAACTTGTTGAAGAACAGTTT
AGCTCTTCATCTGAAGAAGGAGATGAAGATTTTGAAGGAAAACAGGGAAAAATACTTGCAAATACGTTTATAACATACACTACTCAGACAGATGGAGATACACGT
GAATTAGAGCGAACAAAACAATATGTAAATGAAGCTTTTCAAGCAGGGGCTATGACATGCCTAATTTGTATTGCTTCGGTGAAGAGAAACCAAGCAGTTTGGAGC
TGTTCGGGATGTTTCTGTATATTTCACATGCCCTGTATCCAGAAGTGGGCTAAAGACAGCCAGTTTCTTGTATCTTCTGTGACTGATGATGATTTTGGAAAGAAA
GATTGTCCCTGGCCTTGTCCAAAATGTAGGTTTGAATACAAACGATCTGAAACACCTAGTAGGTACTATTGCTATTGTGGAAAAGTAGAAGATCCACCTTTAGAT
CCGTGGCTTGTGCCTCATTCATGTGGCCAAGTATGTGAGCGTGAATTTAAACCTCCTTGTGGCCATAAATGTTTACTCCTCTGTCATCCAGGTCCCTGCCCTCCT
TGTCCAAAGATGGTCACAACTACTTGTTACTGTAAGAAAGCAAAACCTATCCCTCGTAGGTGCAGTGCCAAGGAATGGTCTTGTCAGCTGCCATGTGGACAGAAG
TTGCTTTGTGGGCAACATAAGTGTGAAAATCCTTGTCATGCAGGAAGCTGTCAGCCTTGTCCAAGAGTTAGTAGACAAAAGTGTGTCTGTGGCAAAAAAGTAGCT
GAAAGAAGTTGTGCAAGTCCACTATGGCACTGTGATCAAGTATGTGGAAAAACACTGCCATGTGGTAATCACACATGTGAGCAAGTTTGCCATGTTGGTGCTTGT
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>NFXL1|152518|protein
MEASWRQVAGGRGRSRGRATAAPSGNGVHLRGAGGGREKGSVGAVPSGTSPGGVATTAAAGSRHSPAGSQALQTTAASELMSQKKFEEIKKANQAAARKLVEEQF
SSSSEEGDEDFEGKQGKILANTFITYTTQTDGDTRELERTKQYVNEAFQAGAMTCLICIASVKRNQAVWSCSGCFCIFHMPCIQKWAKDSQFLVSSVTDDDFGKK
DCPWPCPKCRFEYKRSETPSRYYCYCGKVEDPPLDPWLVPHSCGQVCEREFKPPCGHKCLLLCHPGPCPPCPKMVTTTCYCKKAKPIPRRCSAKEWSCQLPCGQK
LLCGQHKCENPCHAGSCQPCPRVSRQKCVCGKKVAERSCASPLWHCDQVCGKTLPCGNHTCEQVCHVGACGECPRSGKRFCPCQKSKFSLPCTEDVPTCGDSCDK
VLECGIHRCSQRCHRGPCETCRQEVEKHCRCGKHTKRMPCHKPYLCETKCVKMRDCQKHQCRRKCCPGNCPPCDQNCGRTLGCRNHKCPSVCHRGSCYPCPETVD
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 4 (3)
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
Sabaratnam, 2000 - FISHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018