NFX1 (nuclear transcription factor, X-box binding 1) - Rat Genome Database

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Gene: NFX1 (nuclear transcription factor, X-box binding 1) Homo sapiens
Analyze
Symbol: NFX1
Name: nuclear transcription factor, X-box binding 1
RGD ID: 1321083
HGNC Page HGNC:7803
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and ubiquitin protein ligase activity. Involved in negative regulation of transcription by RNA polymerase II and protein autoubiquitination. Located in cytosol; nuclear lumen; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp779G2416; MGC20369; NFX2; nuclear transcription factor, X box-binding protein 1; TEG-42; Tex42; transcriptional repressor NF-X1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38933,290,516 - 33,371,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,290,512 - 33,371,157 (+)EnsemblGRCh38hg38GRCh38
GRCh37933,290,514 - 33,371,155 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,280,510 - 33,361,155 (+)NCBINCBI36Build 36hg18NCBI36
Build 34933,280,509 - 33,338,719NCBI
Celera933,220,555 - 33,301,274 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,247,318 - 33,327,704 (+)NCBIHuRef
CHM1_1933,290,194 - 33,370,948 (+)NCBICHM1_1
T2T-CHM13v2.0933,309,149 - 33,389,758 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytosol  (IDA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)
plasma membrane  (IDA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2511169   PMID:7964459   PMID:8125298   PMID:10500182   PMID:12047746   PMID:12226669   PMID:12477932   PMID:14702039   PMID:15358174   PMID:15371341   PMID:16344560   PMID:16687406  
PMID:16751776   PMID:17267499   PMID:17567985   PMID:18505829   PMID:19274049   PMID:19369336   PMID:19690564   PMID:20211142   PMID:20739528   PMID:21873635   PMID:22658674   PMID:22681889  
PMID:24109236   PMID:24163370   PMID:24457600   PMID:25723053   PMID:26496610   PMID:26673895   PMID:27311997   PMID:28190767   PMID:28514442   PMID:28718761   PMID:29117186   PMID:29395067  
PMID:29509190   PMID:30021884   PMID:30776478   PMID:30903928   PMID:31059266   PMID:31375530   PMID:31527615   PMID:32239614   PMID:32460013   PMID:32814053   PMID:32877691   PMID:33658012  
PMID:33961781   PMID:34079125   PMID:34237211   PMID:34244482   PMID:34597346   PMID:34693597   PMID:34702444   PMID:35013218   PMID:35271311   PMID:35509820   PMID:35563538   PMID:35748872  
PMID:35944360   PMID:36232890   PMID:36244648   PMID:36273042   PMID:37827155  


Genomics

Comparative Map Data
NFX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38933,290,516 - 33,371,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,290,512 - 33,371,157 (+)EnsemblGRCh38hg38GRCh38
GRCh37933,290,514 - 33,371,155 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,280,510 - 33,361,155 (+)NCBINCBI36Build 36hg18NCBI36
Build 34933,280,509 - 33,338,719NCBI
Celera933,220,555 - 33,301,274 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,247,318 - 33,327,704 (+)NCBIHuRef
CHM1_1933,290,194 - 33,370,948 (+)NCBICHM1_1
T2T-CHM13v2.0933,309,149 - 33,389,758 (+)NCBIT2T-CHM13v2.0
Nfx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,970,906 - 41,025,992 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl440,970,906 - 41,025,993 (+)EnsemblGRCm39 Ensembl
GRCm38440,970,906 - 41,025,992 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,970,906 - 41,025,993 (+)EnsemblGRCm38mm10GRCm38
MGSCv37440,917,976 - 40,973,025 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,159,652 - 41,213,849 (+)NCBIMGSCv36mm8
Celera440,631,709 - 40,686,644 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.72NCBI
Nfx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8560,900,140 - 60,958,889 (+)NCBIGRCr8
mRatBN7.2556,104,945 - 56,162,912 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,105,234 - 56,162,912 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx558,071,542 - 58,129,118 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,890,692 - 59,948,268 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,885,062 - 59,942,987 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0557,290,916 - 57,348,720 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,291,156 - 57,348,720 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,822,485 - 61,879,030 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,366,449 - 58,424,124 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,366,721 - 58,408,789 (+)NCBI
Celera554,717,075 - 54,774,576 (+)NCBICelera
Cytogenetic Map5q22NCBI
Nfx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,307,682 - 2,371,433 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,306,961 - 2,371,597 (-)NCBIChiLan1.0ChiLan1.0
NFX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21191,232,589 - 91,315,646 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1991,238,531 - 91,321,602 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0933,068,235 - 33,149,271 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1933,876,836 - 33,959,924 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl933,876,836 - 33,959,924 (+)Ensemblpanpan1.1panPan2
NFX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,387,368 - 50,462,978 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1150,387,883 - 50,462,428 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,017,302 - 49,092,686 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01151,327,657 - 51,403,266 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1151,328,098 - 51,404,681 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11149,991,742 - 50,067,296 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01149,859,107 - 49,935,686 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01150,624,061 - 50,699,626 (+)NCBIUU_Cfam_GSD_1.0
Nfx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,277,056 - 165,339,742 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,823,813 - 1,886,721 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,824,629 - 1,886,726 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,126,607 - 33,200,680 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,126,460 - 33,200,819 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,446,410 - 37,473,033 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NFX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11246,899,208 - 46,982,237 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1246,900,920 - 46,982,518 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603843,791,151 - 43,876,000 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nfx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473638,044,117 - 38,127,512 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473638,054,231 - 38,124,497 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NFX1
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:33126394-33398500)x3 copy number gain not provided [RCV001006236] Chr9:33126394..33398500 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_002504.6(NFX1):c.1341A>T (p.Lys447Asn) single nucleotide variant Inborn genetic diseases [RCV003242558] Chr9:33307264 [GRCh38]
Chr9:33307262 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p21.1-13.3(chr9:33127803-33398500)x3 copy number gain not provided [RCV002473888] Chr9:33127803..33398500 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:33127802-33377822)x3 copy number gain not provided [RCV001259520] Chr9:33127802..33377822 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_002504.6(NFX1):c.3055A>C (p.Lys1019Gln) single nucleotide variant Inborn genetic diseases [RCV003304662] Chr9:33366644 [GRCh38]
Chr9:33366642 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p21.1-13.3(chr9:33127803-33391202)x3 copy number gain not provided [RCV002474636] Chr9:33127803..33391202 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NM_002504.6(NFX1):c.2345T>C (p.Val782Ala) single nucleotide variant Inborn genetic diseases [RCV002779693] Chr9:33347038 [GRCh38]
Chr9:33347036 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.823A>G (p.Arg275Gly) single nucleotide variant Inborn genetic diseases [RCV002906407] Chr9:33295217 [GRCh38]
Chr9:33295215 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1633G>A (p.Asp545Asn) single nucleotide variant Inborn genetic diseases [RCV002777790] Chr9:33318775 [GRCh38]
Chr9:33318773 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.3196G>A (p.Val1066Ile) single nucleotide variant Inborn genetic diseases [RCV002749418] Chr9:33367525 [GRCh38]
Chr9:33367523 [GRCh37]
Chr9:9p13.3		 likely benign
NM_002504.6(NFX1):c.2194C>T (p.Arg732Cys) single nucleotide variant Inborn genetic diseases [RCV002773598] Chr9:33342824 [GRCh38]
Chr9:33342822 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.134G>C (p.Arg45Thr) single nucleotide variant Inborn genetic diseases [RCV002849333] Chr9:33294528 [GRCh38]
Chr9:33294526 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.2694G>A (p.Met898Ile) single nucleotide variant Inborn genetic diseases [RCV003000603] Chr9:33352684 [GRCh38]
Chr9:33352682 [GRCh37]
Chr9:9p13.3		 likely benign
NM_002504.6(NFX1):c.254C>T (p.Thr85Met) single nucleotide variant Inborn genetic diseases [RCV002758791] Chr9:33294648 [GRCh38]
Chr9:33294646 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.2086C>T (p.Arg696Trp) single nucleotide variant Inborn genetic diseases [RCV002661639] Chr9:33338560 [GRCh38]
Chr9:33338558 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.952C>T (p.Arg318Trp) single nucleotide variant Inborn genetic diseases [RCV002744443] Chr9:33295346 [GRCh38]
Chr9:33295344 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.2824C>G (p.Gln942Glu) single nucleotide variant Inborn genetic diseases [RCV003003436] Chr9:33354180 [GRCh38]
Chr9:33354178 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1405T>A (p.Cys469Ser) single nucleotide variant Inborn genetic diseases [RCV002987279] Chr9:33311134 [GRCh38]
Chr9:33311132 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1799C>T (p.Pro600Leu) single nucleotide variant Inborn genetic diseases [RCV002931270] Chr9:33319020 [GRCh38]
Chr9:33319018 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1485C>G (p.His495Gln) single nucleotide variant Inborn genetic diseases [RCV002986617] Chr9:33313690 [GRCh38]
Chr9:33313688 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1826G>A (p.Ser609Asn) single nucleotide variant Inborn genetic diseases [RCV002787397] Chr9:33319047 [GRCh38]
Chr9:33319045 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1511T>G (p.Leu504Trp) single nucleotide variant Inborn genetic diseases [RCV002812978] Chr9:33313716 [GRCh38]
Chr9:33313714 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1158A>G (p.Ile386Met) single nucleotide variant Inborn genetic diseases [RCV002919966] Chr9:33301387 [GRCh38]
Chr9:33301385 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.140A>C (p.Asn47Thr) single nucleotide variant Inborn genetic diseases [RCV002648416] Chr9:33294534 [GRCh38]
Chr9:33294532 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.224C>T (p.Pro75Leu) single nucleotide variant Inborn genetic diseases [RCV002674155] Chr9:33294618 [GRCh38]
Chr9:33294616 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.3164A>G (p.Asn1055Ser) single nucleotide variant Inborn genetic diseases [RCV003173738] Chr9:33366753 [GRCh38]
Chr9:33366751 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1945G>A (p.Asp649Asn) single nucleotide variant Inborn genetic diseases [RCV003199632] Chr9:33328619 [GRCh38]
Chr9:33328617 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.350G>C (p.Arg117Thr) single nucleotide variant Inborn genetic diseases [RCV003198715] Chr9:33294744 [GRCh38]
Chr9:33294742 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1582A>T (p.Asn528Tyr) single nucleotide variant Inborn genetic diseases [RCV003193826] Chr9:33313787 [GRCh38]
Chr9:33313785 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.2576C>G (p.Pro859Arg) single nucleotide variant Inborn genetic diseases [RCV003189072] Chr9:33351711 [GRCh38]
Chr9:33351709 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.202G>C (p.Val68Leu) single nucleotide variant Inborn genetic diseases [RCV003194523] Chr9:33294596 [GRCh38]
Chr9:33294594 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1610C>T (p.Ser537Phe) single nucleotide variant Inborn genetic diseases [RCV003310004] Chr9:33318752 [GRCh38]
Chr9:33318750 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.896A>G (p.Asn299Ser) single nucleotide variant Inborn genetic diseases [RCV003349426] Chr9:33295290 [GRCh38]
Chr9:33295288 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1337A>G (p.Lys446Arg) single nucleotide variant Inborn genetic diseases [RCV003361793] Chr9:33307260 [GRCh38]
Chr9:33307258 [GRCh37]
Chr9:9p13.3		 likely benign
NM_002504.6(NFX1):c.2428C>T (p.Arg810Trp) single nucleotide variant Inborn genetic diseases [RCV003374338] Chr9:33351563 [GRCh38]
Chr9:33351561 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_002504.6(NFX1):c.1638A>G (p.Val546=) single nucleotide variant not provided [RCV003457167] Chr9:33318780 [GRCh38]
Chr9:33318778 [GRCh37]
Chr9:9p13.3		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002504.6(NFX1):c.157C>T (p.Pro53Ser) single nucleotide variant Inborn genetic diseases [RCV003201266] Chr9:33294551 [GRCh38]
Chr9:33294549 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
NM_002504.6(NFX1):c.1238C>T (p.Ala413Val) single nucleotide variant Inborn genetic diseases [RCV003252803] Chr9:33303236 [GRCh38]
Chr9:33303234 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p21.1-13.3(chr9:32912345-33564154)x3 copy number gain not provided [RCV000748375] Chr9:32912345..33564154 [GRCh37]
Chr9:9p21.1-13.3		 benign
GRCh37/hg19 9p21.1-13.3(chr9:33177135-33407576)x3 copy number gain not provided [RCV000846223] Chr9:33177135..33407576 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1963
Count of miRNA genes:869
Interacting mature miRNAs:1017
Transcripts:ENST00000318524, ENST00000379521, ENST00000379540, ENST00000463421, ENST00000466359, ENST00000466971
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-22028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,370,820 - 33,371,069UniSTSGRCh37
Build 36933,360,820 - 33,361,069RGDNCBI36
Celera933,300,939 - 33,301,188RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,327,369 - 33,327,618UniSTS
Whitehead-RH Map9152.6UniSTS
RH75007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,360,286 - 33,360,520UniSTSGRCh37
Build 36933,350,286 - 33,350,520RGDNCBI36
Celera933,290,417 - 33,290,651RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,316,847 - 33,317,081UniSTS
RH118658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,346,514 - 33,346,821UniSTSGRCh37
Build 36933,336,514 - 33,336,821RGDNCBI36
Celera933,276,644 - 33,276,951RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,303,109 - 33,303,416UniSTS
TNG Radiation Hybrid Map917344.0UniSTS
D9S1052E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,364,739 - 33,366,720UniSTSGRCh37
Build 36933,354,739 - 33,356,720RGDNCBI36
Celera933,294,858 - 33,296,839RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,321,288 - 33,323,269UniSTS
STS-AA037854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,370,756 - 33,370,963UniSTSGRCh37
Build 36933,360,756 - 33,360,963RGDNCBI36
Celera933,300,875 - 33,301,082RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,327,305 - 33,327,512UniSTS
GeneMap99-GB4 RH Map9134.18UniSTS
D9S1081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,292,871 - 33,293,049UniSTSGRCh37
Build 36933,282,871 - 33,283,049RGDNCBI36
Celera933,223,008 - 33,223,186RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,249,771 - 33,249,949UniSTS
Whitehead-RH Map9139.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9419.1UniSTS
RH35865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,370,954 - 33,371,090UniSTSGRCh37
Build 36933,360,954 - 33,361,090RGDNCBI36
Celera933,301,073 - 33,301,209RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,327,503 - 33,327,639UniSTS
GeneMap99-GB4 RH Map9124.73UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2331 1740 1604 524 1265 366 4335 1851 2397 311 1442 1596 174 1 1186 2770 5 2
Low 108 1249 122 100 684 99 22 346 1337 108 18 17 1 18 18 1
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF332009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI679589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI884552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW674001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP871782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA093124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA290058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB076795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318524   ⟹   ENSP00000317695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,290,545 - 33,348,723 (+)Ensembl
RefSeq Acc Id: ENST00000379521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,290,512 - 33,365,283 (+)Ensembl
RefSeq Acc Id: ENST00000379540   ⟹   ENSP00000368856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,290,516 - 33,371,157 (+)Ensembl
RefSeq Acc Id: ENST00000463421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,365,233 - 33,367,578 (+)Ensembl
RefSeq Acc Id: ENST00000466359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,319,021 - 33,332,657 (+)Ensembl
RefSeq Acc Id: ENST00000466971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,342,812 - 33,351,882 (+)Ensembl
RefSeq Acc Id: NM_001318758   ⟹   NP_001305687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,371,157 (+)NCBI
CHM1_1933,290,191 - 33,370,954 (+)NCBI
T2T-CHM13v2.0933,309,149 - 33,389,758 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002504   ⟹   NP_002495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,371,157 (+)NCBI
GRCh37933,290,418 - 33,371,155 (+)ENTREZGENE
GRCh37933,290,418 - 33,371,155 (+)NCBI
Build 36933,280,510 - 33,361,155 (+)NCBI Archive
HuRef933,247,318 - 33,327,704 (+)ENTREZGENE
CHM1_1933,290,191 - 33,370,954 (+)NCBI
T2T-CHM13v2.0933,309,149 - 33,389,758 (+)NCBI
Sequence:
RefSeq Acc Id: NM_147134   ⟹   NP_667345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,348,731 (+)NCBI
GRCh37933,290,418 - 33,371,155 (+)ENTREZGENE
GRCh37933,290,418 - 33,371,155 (+)NCBI
Build 36933,280,510 - 33,338,721 (+)NCBI Archive
HuRef933,247,318 - 33,327,704 (+)ENTREZGENE
CHM1_1933,290,191 - 33,348,497 (+)NCBI
T2T-CHM13v2.0933,309,149 - 33,367,336 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423427   ⟹   XP_047279383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,347,942 (+)NCBI
RefSeq Acc Id: XM_047423428   ⟹   XP_047279384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,347,937 (+)NCBI
RefSeq Acc Id: XM_047423429   ⟹   XP_047279385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,516 - 33,347,938 (+)NCBI
RefSeq Acc Id: XM_054363002   ⟹   XP_054218977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,309,149 - 33,366,548 (+)NCBI
RefSeq Acc Id: XM_054363003   ⟹   XP_054218978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,309,149 - 33,366,543 (+)NCBI
RefSeq Acc Id: XM_054363004   ⟹   XP_054218979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,309,149 - 33,366,544 (+)NCBI
RefSeq Acc Id: XM_054363005   ⟹   XP_054218980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,310,077 - 33,366,548 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002495   ⟸   NM_002504
- Peptide Label: isoform 1
- UniProtKB: Q96EL5 (UniProtKB/Swiss-Prot),   Q5VXW6 (UniProtKB/Swiss-Prot),   A8K6H8 (UniProtKB/Swiss-Prot),   Q9BXI1 (UniProtKB/Swiss-Prot),   Q12986 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_667345   ⟸   NM_147134
- Peptide Label: isoform 3
- UniProtKB: A0JLR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305687   ⟸   NM_001318758
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000368856   ⟸   ENST00000379540
RefSeq Acc Id: ENSP00000317695   ⟸   ENST00000318524
RefSeq Acc Id: XP_047279383   ⟸   XM_047423427
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279385   ⟸   XM_047423429
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279384   ⟸   XM_047423428
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218977   ⟸   XM_054363002
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218979   ⟸   XM_054363004
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218978   ⟸   XM_054363003
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218980   ⟸   XM_054363005
- Peptide Label: isoform X4
Protein Domains
PHD-type   R3H   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12986-F1-model_v2 AlphaFold Q12986 1-1120 view protein structure

Promoters
RGD ID:6807914
Promoter ID:HG_KWN:62913
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000318524,   OTTHUMT00000052069,   OTTHUMT00000052070,   UC003ZSR.1,   UC010MJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,279,681 - 33,280,692 (+)MPROMDB
RGD ID:6807483
Promoter ID:HG_KWN:62914
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000263220
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,283,961 - 33,285,027 (+)MPROMDB
RGD ID:7214875
Promoter ID:EPDNEW_H13184
Type:initiation region
Name:NFX1_1
Description:nuclear transcription factor, X-box binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,290,527 - 33,290,587EPDNEW
RGD ID:6807915
Promoter ID:HG_KWN:62918
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000052071
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,355,646 - 33,356,146 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7803 AgrOrtholog
COSMIC NFX1 COSMIC
Ensembl Genes ENSG00000086102 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318524 ENTREZGENE
  ENST00000318524.6 UniProtKB/Swiss-Prot
  ENST00000379540 ENTREZGENE
  ENST00000379540.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1370.50 UniProtKB/Swiss-Prot
GTEx ENSG00000086102 GTEx
HGNC ID HGNC:7803 ENTREZGENE
Human Proteome Map NFX1 Human Proteome Map
InterPro NFX1_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3H_dom UniProtKB/Swiss-Prot
  R3H_dom_sf UniProtKB/Swiss-Prot
  R3H_NF-X1 UniProtKB/Swiss-Prot
  Znf_NFX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4799 UniProtKB/Swiss-Prot
NCBI Gene 4799 ENTREZGENE
OMIM 603255 OMIM
PANTHER PTHR12360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTIONAL REPRESSOR NF-X1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam R3H UniProtKB/Swiss-Prot
  zf-NF-X1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31608 PharmGKB
PROSITE R3H UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART R3H UniProtKB/Swiss-Prot
  RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_NFX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82708 UniProtKB/Swiss-Prot
UniProt A0JLR2 ENTREZGENE, UniProtKB/TrEMBL
  A8K6H8 ENTREZGENE
  L8ECM9_HUMAN UniProtKB/TrEMBL
  NFX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VXW6 ENTREZGENE
  Q96EL5 ENTREZGENE
  Q9BXI1 ENTREZGENE
UniProt Secondary A8K6H8 UniProtKB/Swiss-Prot
  Q5VXW6 UniProtKB/Swiss-Prot
  Q96EL5 UniProtKB/Swiss-Prot
  Q9BXI1 UniProtKB/Swiss-Prot