NFIX gene homepage

General information
Gene symbol NFIX
Gene name nuclear factor I/X (CCAAT-binding transcription factor)
Chromosome 19
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_032925.2
Transcript reference NM_001271043.1, NM_002501.2
Exon/intron information NM_001271043.1 exon/intron table
Associated with diseases ID, MRSHSS, SOTOS, SOTOS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 97
Unique public DNA variants reported 73
Individuals with public variants 75
Hidden variants 19
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created November 19, 2012
Date last updated October 27, 2018
Version NFIX:181027

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001271043.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/NFIX
HGNC 7788
Entrez Gene 4784
PubMed articles NFIX
OMIM - Gene 164005
OMIM - Diseases MRSHSS (Marshall-Smith syndrome (MRSHSS))
SOTOS-2 (Sotos syndrome, type 2 (SOTOS-2))
HGMD NFIX
GeneCards NFIX
GeneTests NFIX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001767 19 transcript variant 1 NM_001271043.1 NP_001257972.1 97
00025274 19 transcript variant 2 NM_002501.2 NP_002492.2 72


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