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