Evidence Details for NFIX
Basic Information Top
| Gene Symbol: | NFIX ( NF1A ) |
|---|---|
| Gene Full Name: | nuclear factor I/X (CCAAT-binding transcription factor) |
| Band: | 19p13.13 |
| Quick Links | Entrez ID:4784; OMIM: 164005; Uniprot ID:NFIX_HUMAN; ENSEMBL ID: ENSG00000008441; HGNC ID: 7788 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NFIX|4784|nucleotide
ATGTACTCCCCGTACTGCCTCACCCAGGATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCG
CGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAG
TGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTC
TCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATGGTGATTTTGTTTAAGGGGATC
CCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTG
GATCTTTATCTGGCTTACTTTGTCCACACTCCGGAATCCGGACAATCAGATAGTTCAAACCAGCAAGGAGATGCGGACATCAAACCACTGCCCAACGGGCACTTA
AGTTTCCAGGACTGTTTTGTGACTTCCGGGGTCTGGAATGTGACGGAGCTGGTGAGAGTATCACAGACTCCTGTTGCAACAGCATCAGGGCCCAACTTCTCCCTG
GCGGACCTGGAGAGTCCCAGCTACTACAACATCAACCAGGTGACCCTGGGGCGGCGGTCCATCACCTCCCCTCCTTCCACCAGCACCACCAAGCGCCCCAAGTCC
ATCGATGACAGTGAGATGGAGAGCCCTGTTGATGACGTGTTCTATCCCGGGACAGGCCGTTCCCCAGCAGCTGGCAGCAGCCAGTCCAGCGGGTGGCCCAACGAT
GTGGATGCAGGCCCGGCTTCTCTAAAGAAGTCAGGAAAGCTGGACTTCTGCAGTGCCCTCTCCTCTCAGGGCAGCTCCCCGCGCATGGCTTTCACCCACCACCCG
CTGCCTGTGCTTGCTGGAGTCAGACCAGGGAGCCCCCGGGCCACAGCATCAGCCCTGCACTTCCCCTCCACGTCCATCATCCAGCAGTCGAGCCCGTATTTCACG
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ATGTACTCCCCGTACTGCCTCACCCAGGATGAGTTCCACCCGTTCATCGAGGCACTGCTGCCTCACGTCCGCGCTTTCTCCTACACCTGGTTCAACCTGCAGGCG
CGGAAGCGCAAGTACTTCAAGAAGCATGAAAAGCGGATGTCGAAGGACGAGGAGCGGGCGGTGAAGGACGAGCTGCTGGGCGAGAAGCCCGAGATCAAGCAGAAG
TGGGCATCCCGGCTGCTGGCCAAGCTGCGCAAGGACATCCGGCCCGAGTTCCGCGAGGACTTCGTGCTGACCATCACGGGCAAGAAGCCCCCCTGCTGCGTGCTC
TCCAACCCCGACCAGAAGGGCAAGATCCGGCGGATTGACTGCCTGCGCCAGGCTGACAAGGTGTGGCGGCTGGACCTGGTCATGGTGATTTTGTTTAAGGGGATC
CCCCTGGAAAGTACTGATGGGGAGCGGCTCTACAAGTCGCCTCAGTGCTCGAACCCCGGCCTGTGCGTCCAGCCACATCACATTGGAGTCACAATCAAAGAACTG
GATCTTTATCTGGCTTACTTTGTCCACACTCCGGAATCCGGACAATCAGATAGTTCAAACCAGCAAGGAGATGCGGACATCAAACCACTGCCCAACGGGCACTTA
AGTTTCCAGGACTGTTTTGTGACTTCCGGGGTCTGGAATGTGACGGAGCTGGTGAGAGTATCACAGACTCCTGTTGCAACAGCATCAGGGCCCAACTTCTCCCTG
GCGGACCTGGAGAGTCCCAGCTACTACAACATCAACCAGGTGACCCTGGGGCGGCGGTCCATCACCTCCCCTCCTTCCACCAGCACCACCAAGCGCCCCAAGTCC
ATCGATGACAGTGAGATGGAGAGCCCTGTTGATGACGTGTTCTATCCCGGGACAGGCCGTTCCCCAGCAGCTGGCAGCAGCCAGTCCAGCGGGTGGCCCAACGAT
GTGGATGCAGGCCCGGCTTCTCTAAAGAAGTCAGGAAAGCTGGACTTCTGCAGTGCCCTCTCCTCTCAGGGCAGCTCCCCGCGCATGGCTTTCACCCACCACCCG
CTGCCTGTGCTTGCTGGAGTCAGACCAGGGAGCCCCCGGGCCACAGCATCAGCCCTGCACTTCCCCTCCACGTCCATCATCCAGCAGTCGAGCCCGTATTTCACG
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>NFIX|4784|protein
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVL
SNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHL
SFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPND
VDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQHS
QRQAPPLPTGLSASDPGTATF
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MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVL
SNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHL
SFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPND
VDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQHS
QRQAPPLPTGLSASDPGTATF
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Sotos syndrome (117550) |
| Description | Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, ID, scoliosis, and unusual facial features |
| Reference(s) | 20673863; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.09 | Up | 0.00331 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.