RFX3 (regulatory factor X3) - Rat Genome Database

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Gene: RFX3 (regulatory factor X3) Homo sapiens
Analyze
Symbol: RFX3
Name: regulatory factor X3
RGD ID: 1317168
HGNC Page HGNC:9984
Description: Enables transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Part of chromatin.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA32F11.1; DNA binding protein RFX3; MGC87155; regulatory factor X 3; regulatory factor X, 3 (influences HLA class II expression); transcription factor RFX3
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
GRCh3893,218,297 - 3,526,001 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl93,218,297 - 3,526,004 (-)EnsemblGRCh38hg38GRCh38
GRCh3793,218,297 - 3,526,001 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3693,214,645 - 3,515,983 (-)NCBINCBI36Build 36hg18NCBI36
Celera93,142,942 - 3,444,468 (-)NCBICelera
Cytogenetic Map9p24.2NCBI
HuRef93,179,678 - 3,481,736 (-)NCBIHuRef
CHM1_193,225,103 - 3,526,805 (-)NCBICHM1_1
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA,IEA,ISA)
extracellular region  (IEA)
nucleus  (IC,IEA,TAS)
transcription regulator complex  (IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8289803   PMID:8600444   PMID:8889548   PMID:10330134   PMID:11682486   PMID:12411430   PMID:12477932   PMID:14702039   PMID:15024578   PMID:15164053   PMID:15489334   PMID:16189514  
PMID:16344560   PMID:19274049   PMID:19671664   PMID:20148032   PMID:20211142   PMID:20413507   PMID:21516116   PMID:21532573   PMID:21873635   PMID:22415835   PMID:23822649   PMID:24058526  
PMID:25416956   PMID:25609649   PMID:26186194   PMID:26949251   PMID:27173435   PMID:28473536   PMID:28514442   PMID:29317724   PMID:29507755   PMID:29892012   PMID:30127002   PMID:31515488  
PMID:32296183   PMID:33961781   PMID:35416616   PMID:36215168  


Genomics

Comparative Map Data
RFX3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3893,218,297 - 3,526,001 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl93,218,297 - 3,526,004 (-)EnsemblGRCh38hg38GRCh38
GRCh3793,218,297 - 3,526,001 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3693,214,645 - 3,515,983 (-)NCBINCBI36Build 36hg18NCBI36
Celera93,142,942 - 3,444,468 (-)NCBICelera
Cytogenetic Map9p24.2NCBI
HuRef93,179,678 - 3,481,736 (-)NCBIHuRef
CHM1_193,225,103 - 3,526,805 (-)NCBICHM1_1
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBIT2T-CHM13v2.0
Rfx3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391927,739,121 - 27,995,287 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1927,739,121 - 27,988,566 (-)EnsemblGRCm39 Ensembl
GRCm381927,761,721 - 28,014,669 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1927,761,721 - 28,011,166 (-)EnsemblGRCm38mm10GRCm38
MGSCv371927,836,211 - 28,085,656 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361927,834,138 - 28,077,137 (-)NCBIMGSCv36mm8
Celera1928,539,554 - 28,762,791 (-)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1922.36NCBI
Rfx3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81234,863,462 - 235,122,989 (-)NCBIGRCr8
mRatBN7.21225,449,872 - 225,709,622 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1225,456,187 - 225,709,402 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1233,853,780 - 234,113,501 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01240,783,890 - 241,043,615 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01233,604,635 - 233,864,363 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01245,853,332 - 246,110,648 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1245,859,633 - 246,110,218 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01253,096,951 - 253,354,430 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41231,342,761 - 231,499,447 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11231,506,784 - 231,765,347 (-)NCBI
Celera1222,624,008 - 222,875,509 (-)NCBICelera
Cytogenetic Map1q52NCBI
Rfx3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554347,610,422 - 7,881,304 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554347,635,363 - 7,910,056 (-)NCBIChiLan1.0ChiLan1.0
RFX3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211121,059,425 - 121,367,498 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19121,065,243 - 121,373,442 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v093,024,016 - 3,332,266 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.193,216,667 - 3,523,179 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl93,223,405 - 3,398,839 (-)Ensemblpanpan1.1panPan2
RFX3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1191,773,492 - 92,060,895 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl191,778,481 - 92,059,792 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha192,238,679 - 92,527,642 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0192,319,683 - 92,608,765 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl192,324,463 - 92,608,734 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1191,957,293 - 92,246,263 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0191,668,723 - 91,957,177 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0192,445,062 - 92,734,087 (-)NCBIUU_Cfam_GSD_1.0
Rfx3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947139,366,316 - 139,666,094 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365031,606,742 - 1,800,364 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365031,506,944 - 1,802,256 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RFX3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,360,718 - 218,640,923 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,340,427 - 218,647,389 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21244,408,442 - 244,495,985 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RFX3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11276,039,729 - 76,344,936 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1276,096,465 - 76,338,204 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603864,371,457 - 64,680,555 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rfx3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247368,003,234 - 8,161,150 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247368,001,078 - 8,301,856 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RFX3
50 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 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 copy number loss See cases [RCV000051039] Chr9:220253..3793376 [GRCh38]
Chr9:220253..3793376 [GRCh37]
Chr9:210253..3783376 [NCBI36]
Chr9:9p24.3-24.2		 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 9p24.2(chr9:3288211-3545454)x1 copy number loss See cases [RCV000052851] Chr9:3288211..3545454 [GRCh38]
Chr9:3288211..3545454 [GRCh37]
Chr9:3278211..3535454 [NCBI36]
Chr9:9p24.2		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 copy number loss See cases [RCV000052862] Chr9:280255..3905421 [GRCh38]
Chr9:280255..3905421 [GRCh37]
Chr9:270255..3895421 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 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 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2		 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 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [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 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 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 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
NM_001282116.1(RFX3):c.731+573A>G single nucleotide variant Lung cancer [RCV000108309] Chr9:3292504 [GRCh38]
Chr9:3292504 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 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 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 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 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 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 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 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 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 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 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
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 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.2(chr9:3308176-4296711)x3 copy number gain See cases [RCV000138940] Chr9:3308176..4296711 [GRCh38]
Chr9:3308176..4296711 [GRCh37]
Chr9:3298176..4286711 [NCBI36]
Chr9:9p24.2		 uncertain significance
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-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 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
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 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 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
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 copy number loss See cases [RCV000142630] Chr9:266045..3346702 [GRCh38]
Chr9:266045..3346702 [GRCh37]
Chr9:256045..3336702 [NCBI36]
Chr9:9p24.3-24.2		 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 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1		 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 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 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-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 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 9p24.3-24.1(chr9:1232387-4611862)x1 copy number loss See cases [RCV000446479] Chr9:1232387..4611862 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 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 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 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 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 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 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 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 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 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 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
NM_001282116.2(RFX3):c.2204C>G (p.Thr735Ser) single nucleotide variant Inborn genetic diseases [RCV003287451] Chr9:3225088 [GRCh38]
Chr9:3225088 [GRCh37]
Chr9:9p24.2		 uncertain significance
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 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1		 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 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 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 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 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 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2(chr9:2327913-3426358)x3 copy number gain not provided [RCV000683151] Chr9:2327913..3426358 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 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
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 9p24.2(chr9:2890450-3355511)x3 copy number gain not provided [RCV000683123] Chr9:2890450..3355511 [GRCh37]
Chr9:9p24.2		 uncertain significance
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 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 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
NM_001282116.2(RFX3):c.2011+9C>T single nucleotide variant RFX3-related condition [RCV003935896]|not provided [RCV000958612] Chr9:3228838 [GRCh38]
Chr9:3228838 [GRCh37]
Chr9:9p24.2		 benign
NM_001282116.2(RFX3):c.1752T>C (p.Tyr584=) single nucleotide variant not provided [RCV000947152] Chr9:3257053 [GRCh38]
Chr9:3257053 [GRCh37]
Chr9:9p24.2		 benign
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-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001282116.2(RFX3):c.1546A>G (p.Thr516Ala) single nucleotide variant not provided [RCV002284815] Chr9:3262994 [GRCh38]
Chr9:3262994 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.139C>G (p.Gln47Glu) single nucleotide variant Inborn genetic diseases [RCV003271784] Chr9:3346743 [GRCh38]
Chr9:3346743 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2(chr9:3381819-3419693)x1 copy number loss not provided [RCV000847860] Chr9:3381819..3419693 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1819A>G (p.Met607Val) single nucleotide variant not provided [RCV003239008] Chr9:3248181 [GRCh38]
Chr9:3248181 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2(chr9:2330906-3419904)x3 copy number gain not provided [RCV000847448] Chr9:2330906..3419904 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.2(chr9:3139725-3274112)x3 copy number gain not provided [RCV000849089] Chr9:3139725..3274112 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2(chr9:3256711-4101714)x4 copy number gain not provided [RCV000847504] Chr9:3256711..4101714 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg) single nucleotide variant Autism spectrum disorder [RCV003128000] Chr9:3257004 [GRCh38]
Chr9:3257004 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1473del (p.Phe492fs) deletion Developmental disorder [RCV003127293] Chr9:3263067 [GRCh38]
Chr9:3263067 [GRCh37]
Chr9:9p24.2		 likely pathogenic
NM_001282116.2(RFX3):c.1675A>T (p.Thr559Ser) single nucleotide variant not provided [RCV003230024] Chr9:3257130 [GRCh38]
Chr9:3257130 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.997T>A (p.Phe333Ile) single nucleotide variant not provided [RCV003233367] Chr9:3275589 [GRCh38]
Chr9:3275589 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1683G>A (p.Gln561=) single nucleotide variant RFX3-related condition [RCV003915989]|not provided [RCV000959008] Chr9:3257122 [GRCh38]
Chr9:3257122 [GRCh37]
Chr9:9p24.2		 benign|likely benign
NM_001282116.2(RFX3):c.1187C>T (p.Thr396Ile) single nucleotide variant RFX3-related condition [RCV003918457]|not provided [RCV000971144] Chr9:3271018 [GRCh38]
Chr9:3271018 [GRCh37]
Chr9:9p24.2		 benign
NM_001282116.2(RFX3):c.1965C>T (p.Gly655=) single nucleotide variant not provided [RCV000957131] Chr9:3248035 [GRCh38]
Chr9:3248035 [GRCh37]
Chr9:9p24.2		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 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 9p24.2(chr9:3321631-3691150)x3 copy number gain not provided [RCV001260086] Chr9:3321631..3691150 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.-9+35393A>G single nucleotide variant not provided [RCV002284910] Chr9:3490354 [GRCh38]
Chr9:3490354 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
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 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NC_000009.11:g.(?_2029023)_(5300444_?)dup duplication not provided [RCV001346810] Chr9:2029023..5300444 [GRCh37]
Chr9:9p24.3-24.1		 uncertain significance
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs) duplication Neurodevelopmental disorder [RCV001375031] Chr9:3257096..3257097 [GRCh38]
Chr9:3257096..3257097 [GRCh37]
Chr9:9p24.2		 likely pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
NM_001282116.2(RFX3):c.475-3C>G single nucleotide variant Attention deficit hyperactivity disorder [RCV001376701] Chr9:3301623 [GRCh38]
Chr9:3301623 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys) single nucleotide variant Neurodevelopmental disorder [RCV002277688] Chr9:3288219 [GRCh38]
Chr9:3288219 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1502C>T (p.Ser501Leu) single nucleotide variant not provided [RCV002273395] Chr9:3263038 [GRCh38]
Chr9:3263038 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.937_938del (p.Val313fs) deletion not provided [RCV001752505] Chr9:3277375..3277376 [GRCh38]
Chr9:3277375..3277376 [GRCh37]
Chr9:9p24.2		 likely pathogenic|uncertain significance
NM_001282116.2(RFX3):c.1086+1G>A single nucleotide variant not provided [RCV001758465] Chr9:3275499 [GRCh38]
Chr9:3275499 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995) copy number gain not specified [RCV002053807] Chr9:203861..4342995 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 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
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 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.2(chr9:3253160-3530900)x3 copy number gain not provided [RCV001829133] Chr9:3253160..3530900 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591) copy number loss not specified [RCV002053806] Chr9:203861..3226591 [GRCh37]
Chr9:9p24.3-24.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:1196289-4322298) copy number gain not specified [RCV002053828] Chr9:1196289..4322298 [GRCh37]
Chr9:9p24.3-24.2		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
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
NM_001282116.2(RFX3):c.2179G>C (p.Glu727Gln) single nucleotide variant not provided [RCV002227647] Chr9:3225113 [GRCh38]
Chr9:3225113 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_134428.3(RFX3):c.223A>G (p.Thr75Ala) single nucleotide variant not provided [RCV002221835]   uncertain significance
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
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 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_001282116.2(RFX3):c.973+3A>G single nucleotide variant not provided [RCV002291422] Chr9:3277337 [GRCh38]
Chr9:3277337 [GRCh37]
Chr9:9p24.2		 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 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_001282116.2(RFX3):c.115C>T (p.Gln39Ter) single nucleotide variant RFX3-associated neurodevelopmental disorder [RCV002294580] Chr9:3395474 [GRCh38]
Chr9:3395474 [GRCh37]
Chr9:9p24.2		 likely pathogenic
GRCh37/hg19 9p24.2(chr9:2325086-3426358)x3 copy number gain not provided [RCV002472906] Chr9:2325086..3426358 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1646T>A (p.Val549Asp) single nucleotide variant not provided [RCV002300946] Chr9:3257159 [GRCh38]
Chr9:3257159 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.455C>T (p.Thr152Ile) single nucleotide variant Inborn genetic diseases [RCV002753273] Chr9:3330278 [GRCh38]
Chr9:3330278 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.433G>C (p.Gly145Arg) single nucleotide variant Inborn genetic diseases [RCV002687174] Chr9:3330300 [GRCh38]
Chr9:3330300 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.505T>A (p.Ser169Thr) single nucleotide variant Inborn genetic diseases [RCV002926135] Chr9:3301590 [GRCh38]
Chr9:3301590 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.244A>G (p.Thr82Ala) single nucleotide variant Inborn genetic diseases [RCV002884199] Chr9:3330489 [GRCh38]
Chr9:3330489 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1215A>C (p.Glu405Asp) single nucleotide variant Inborn genetic diseases [RCV002891904] Chr9:3270513 [GRCh38]
Chr9:3270513 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.665C>A (p.Ala222Asp) single nucleotide variant Inborn genetic diseases [RCV002787833] Chr9:3293143 [GRCh38]
Chr9:3293143 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.904G>A (p.Gly302Ser) single nucleotide variant Inborn genetic diseases [RCV002655306] Chr9:3277409 [GRCh38]
Chr9:3277409 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.584_586del (p.Glu195del) deletion not provided [RCV003223374] Chr9:3293222..3293224 [GRCh38]
Chr9:3293222..3293224 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.2159T>G (p.Leu720Arg) single nucleotide variant Inborn genetic diseases [RCV003175232] Chr9:3225133 [GRCh38]
Chr9:3225133 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1486_1487del (p.Leu496fs) microsatellite not provided [RCV003223375] Chr9:3263053..3263054 [GRCh38]
Chr9:3263053..3263054 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.926T>C (p.Val309Ala) single nucleotide variant Inborn genetic diseases [RCV003201109] Chr9:3277387 [GRCh38]
Chr9:3277387 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.2092G>C (p.Glu698Gln) single nucleotide variant Inborn genetic diseases [RCV003386059] Chr9:3225200 [GRCh38]
Chr9:3225200 [GRCh37]
Chr9:9p24.2		 uncertain significance
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_001282116.2(RFX3):c.556T>G (p.Trp186Gly) single nucleotide variant not provided [RCV003435690] Chr9:3293252 [GRCh38]
Chr9:3293252 [GRCh37]
Chr9:9p24.2		 uncertain significance
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
GRCh37/hg19 9p24.2(chr9:3399058-3729674)x3 copy number gain not provided [RCV003484766] Chr9:3399058..3729674 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.855C>G (p.Tyr285Ter) single nucleotide variant RFX3-related condition [RCV003391393] Chr9:3277458 [GRCh38]
Chr9:3277458 [GRCh37]
Chr9:9p24.2		 likely pathogenic
NM_001282116.2(RFX3):c.1772C>G (p.Pro591Arg) single nucleotide variant RFX3-related condition [RCV003412130] Chr9:3257033 [GRCh38]
Chr9:3257033 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1609C>T (p.Gln537Ter) single nucleotide variant not provided [RCV003435689] Chr9:3257196 [GRCh38]
Chr9:3257196 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1298A>G (p.His433Arg) single nucleotide variant RFX3-related condition [RCV003410853] Chr9:3270430 [GRCh38]
Chr9:3270430 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1672A>G (p.Met558Val) single nucleotide variant RFX3-related condition [RCV003414098] Chr9:3257133 [GRCh38]
Chr9:3257133 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.2(chr9:3139287-3274741)x3 copy number gain not specified [RCV003986812] Chr9:3139287..3274741 [GRCh37]
Chr9:9p24.2		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_001282116.2(RFX3):c.1881T>C (p.Arg627=) single nucleotide variant RFX3-related condition [RCV003959108] Chr9:3248119 [GRCh38]
Chr9:3248119 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.215+9A>G single nucleotide variant RFX3-related condition [RCV003947149] Chr9:3346658 [GRCh38]
Chr9:3346658 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.345T>C (p.Thr115=) single nucleotide variant RFX3-related condition [RCV003911876] Chr9:3330388 [GRCh38]
Chr9:3330388 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.216-9C>A single nucleotide variant RFX3-related condition [RCV003956669] Chr9:3330526 [GRCh38]
Chr9:3330526 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.218G>T (p.Arg73Leu) single nucleotide variant RFX3-related condition [RCV003983467] Chr9:3330515 [GRCh38]
Chr9:3330515 [GRCh37]
Chr9:9p24.2		 uncertain significance
NM_001282116.2(RFX3):c.1779C>T (p.Ala593=) single nucleotide variant RFX3-related condition [RCV003914428] Chr9:3257026 [GRCh38]
Chr9:3257026 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.1968+81G>A single nucleotide variant RFX3-related condition [RCV003973816] Chr9:3247951 [GRCh38]
Chr9:3247951 [GRCh37]
Chr9:9p24.2		 benign
NM_001282116.2(RFX3):c.2188G>A (p.Val730Ile) single nucleotide variant RFX3-related condition [RCV003924459] Chr9:3225104 [GRCh38]
Chr9:3225104 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.1455+9T>C single nucleotide variant RFX3-related condition [RCV003943818] Chr9:3266199 [GRCh38]
Chr9:3266199 [GRCh37]
Chr9:9p24.2		 likely benign
NM_001282116.2(RFX3):c.1008T>A (p.Val336=) single nucleotide variant RFX3-related condition [RCV003944631] Chr9:3275578 [GRCh38]
Chr9:3275578 [GRCh37]
Chr9:9p24.2		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3713
Count of miRNA genes:1242
Interacting mature miRNAs:1584
Transcripts:ENST00000302303, ENST00000358730, ENST00000381984, ENST00000382004, ENST00000420720, ENST00000442560, ENST00000449190, ENST00000449234, ENST00000451859, ENST00000457373, ENST00000458034
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
D9S939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3793,355,943 - 3,356,328UniSTSGRCh37
Build 3693,345,943 - 3,346,328RGDNCBI36
Celera93,274,207 - 3,274,592RGD
Cytogenetic Map9p24.2UniSTS
HuRef93,310,961 - 3,311,345UniSTS
Marshfield Genetic Map99.83UniSTS
Marshfield Genetic Map99.83RGD
RFX3_2153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3793,247,337 - 3,248,176UniSTSGRCh37
Build 3693,237,337 - 3,238,176RGDNCBI36
Celera93,165,636 - 3,166,475RGD
HuRef93,202,366 - 3,203,205UniSTS
STS-R89225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3793,419,088 - 3,419,219UniSTSGRCh37
Build 3693,409,088 - 3,409,219RGDNCBI36
Celera93,337,350 - 3,337,481RGD
Cytogenetic Map9p24.2UniSTS
HuRef93,374,151 - 3,374,282UniSTS
GeneMap99-GB4 RH Map919.95UniSTS
D9S1708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3793,247,530 - 3,247,873UniSTSGRCh37
Build 3693,237,530 - 3,237,873RGDNCBI36
Celera93,165,829 - 3,166,172RGD
Cytogenetic Map9p24.2UniSTS
HuRef93,202,559 - 3,202,902UniSTS
Stanford-G3 RH Map975.0UniSTS
GeneMap99-GB4 RH Map920.89UniSTS
Whitehead-RH Map923.9UniSTS
NCBI RH Map935.9UniSTS
GeneMap99-G3 RH Map975.0UniSTS


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 18 5 29 3 259 3 116 16 322 22 265 130 1 2 100
Low 2419 2772 1507 434 1648 276 4232 2018 3406 382 1192 1479 173 1 1201 2682 6 1
Below cutoff 2 214 190 186 44 186 8 163 6 15 2 3 1 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI811824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW152407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU170404 (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
  DB036180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB461398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302303   ⟹   ENSP00000303847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,270,930 - 3,489,487 (-)Ensembl
RefSeq Acc Id: ENST00000358730   ⟹   ENSP00000351574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,247,037 - 3,395,596 (-)Ensembl
RefSeq Acc Id: ENST00000381984   ⟹   ENSP00000371414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,344,732 - 3,395,588 (-)Ensembl
RefSeq Acc Id: ENST00000382004   ⟹   ENSP00000371434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,218,297 - 3,525,983 (-)Ensembl
RefSeq Acc Id: ENST00000420720   ⟹   ENSP00000416189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,323,961 - 3,346,764 (-)Ensembl
RefSeq Acc Id: ENST00000442560   ⟹   ENSP00000410988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,323,961 - 3,346,764 (-)Ensembl
RefSeq Acc Id: ENST00000449190   ⟹   ENSP00000399352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,330,317 - 3,526,004 (-)Ensembl
RefSeq Acc Id: ENST00000449234   ⟹   ENSP00000415594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,247,514 - 3,257,199 (-)Ensembl
RefSeq Acc Id: ENST00000451859   ⟹   ENSP00000411756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,301,543 - 3,489,428 (-)Ensembl
RefSeq Acc Id: ENST00000457373   ⟹   ENSP00000405664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,293,084 - 3,489,416 (-)Ensembl
RefSeq Acc Id: ENST00000458034   ⟹   ENSP00000400026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,257,002 - 3,270,738 (-)Ensembl
RefSeq Acc Id: ENST00000617270   ⟹   ENSP00000482598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl93,218,297 - 3,526,001 (-)Ensembl
RefSeq Acc Id: NM_001282116   ⟹   NP_001269045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
HuRef93,173,329 - 3,481,754 (-)NCBI
CHM1_193,218,754 - 3,526,823 (-)NCBI
T2T-CHM13v2.093,222,122 - 3,530,379 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282117   ⟹   NP_001269046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,270,929 - 3,489,434 (-)NCBI
HuRef93,173,329 - 3,481,754 (-)NCBI
CHM1_193,271,384 - 3,490,262 (-)NCBI
T2T-CHM13v2.093,274,739 - 3,493,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377999   ⟹   NP_001364928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
T2T-CHM13v2.093,222,122 - 3,530,379 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002919   ⟹   NP_002910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,243,989 - 3,526,001 (-)NCBI
GRCh3793,218,297 - 3,525,992 (-)NCBI
Build 3693,237,037 - 3,515,983 (-)NCBI Archive
Celera93,142,942 - 3,444,468 (-)RGD
HuRef93,173,329 - 3,481,754 (-)NCBI
CHM1_193,247,495 - 3,396,370 (-)NCBI
T2T-CHM13v2.093,247,816 - 3,530,379 (-)NCBI
Sequence:
RefSeq Acc Id: NM_134428   ⟹   NP_602304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
GRCh3793,218,297 - 3,525,992 (-)NCBI
Build 3693,214,645 - 3,515,983 (-)NCBI Archive
Celera93,142,942 - 3,444,468 (-)RGD
HuRef93,173,329 - 3,481,754 (-)NCBI
CHM1_193,218,754 - 3,526,823 (-)NCBI
T2T-CHM13v2.093,222,122 - 3,530,379 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716840   ⟹   XP_006716903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716843   ⟹   XP_006716906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,489,434 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716844   ⟹   XP_006716907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716847   ⟹   XP_006716910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,288,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517998   ⟹   XP_011516300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,489,434 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015000   ⟹   XP_016870489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015002   ⟹   XP_016870491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,285,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447630   ⟹   XP_024303398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447631   ⟹   XP_024303399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447632   ⟹   XP_024303400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447634   ⟹   XP_024303402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447635   ⟹   XP_024303403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423687   ⟹   XP_047279643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423688   ⟹   XP_047279644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423689   ⟹   XP_047279645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423690   ⟹   XP_047279646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,423,746 (-)NCBI
RefSeq Acc Id: XM_047423691   ⟹   XP_047279647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423692   ⟹   XP_047279648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423693   ⟹   XP_047279649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423694   ⟹   XP_047279650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423695   ⟹   XP_047279651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423696   ⟹   XP_047279652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423697   ⟹   XP_047279653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423698   ⟹   XP_047279654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423699   ⟹   XP_047279655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423700   ⟹   XP_047279656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,423,746 (-)NCBI
RefSeq Acc Id: XM_047423701   ⟹   XP_047279657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,526,001 (-)NCBI
RefSeq Acc Id: XM_047423702   ⟹   XP_047279658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,218,297 - 3,394,878 (-)NCBI
RefSeq Acc Id: XM_054363466   ⟹   XP_054219441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363467   ⟹   XP_054219442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363468   ⟹   XP_054219443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363469   ⟹   XP_054219444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,529,885 (-)NCBI
RefSeq Acc Id: XM_054363470   ⟹   XP_054219445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363471   ⟹   XP_054219446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,427,557 (-)NCBI
RefSeq Acc Id: XM_054363472   ⟹   XP_054219447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363473   ⟹   XP_054219448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363474   ⟹   XP_054219449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363475   ⟹   XP_054219450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,529,885 (-)NCBI
RefSeq Acc Id: XM_054363476   ⟹   XP_054219451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363477   ⟹   XP_054219452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363478   ⟹   XP_054219453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363479   ⟹   XP_054219454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,493,281 (-)NCBI
RefSeq Acc Id: XM_054363480   ⟹   XP_054219455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,493,270 (-)NCBI
RefSeq Acc Id: XM_054363481   ⟹   XP_054219456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,529,885 (-)NCBI
RefSeq Acc Id: XM_054363482   ⟹   XP_054219457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,529,885 (-)NCBI
RefSeq Acc Id: XM_054363483   ⟹   XP_054219458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,529,882 (-)NCBI
RefSeq Acc Id: XM_054363484   ⟹   XP_054219459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363485   ⟹   XP_054219460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,494,168 (-)NCBI
RefSeq Acc Id: XM_054363486   ⟹   XP_054219461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363487   ⟹   XP_054219462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,427,556 (-)NCBI
RefSeq Acc Id: XM_054363488   ⟹   XP_054219463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,122 - 3,530,379 (-)NCBI
RefSeq Acc Id: XM_054363489   ⟹   XP_054219464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,398,657 (-)NCBI
RefSeq Acc Id: XM_054363490   ⟹   XP_054219465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,289,097 (-)NCBI
RefSeq Acc Id: XM_054363491   ⟹   XP_054219466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.093,222,120 - 3,292,033 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001269045 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269046 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364928 (Get FASTA)   NCBI Sequence Viewer  
  NP_002910 (Get FASTA)   NCBI Sequence Viewer  
  NP_602304 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716903 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716906 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716907 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716910 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516300 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870489 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870491 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303398 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303399 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303400 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303402 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303403 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279646 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279647 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279648 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279649 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279650 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279651 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279652 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279653 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279654 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279655 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279656 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279657 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219444 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219445 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219446 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219448 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219454 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219466 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22191 (Get FASTA)   NCBI Sequence Viewer  
  AAH67778 (Get FASTA)   NCBI Sequence Viewer  
  BAF82229 (Get FASTA)   NCBI Sequence Viewer  
  CAA53706 (Get FASTA)   NCBI Sequence Viewer  
  EAW58794 (Get FASTA)   NCBI Sequence Viewer  
  EAW58795 (Get FASTA)   NCBI Sequence Viewer  
  EAW58796 (Get FASTA)   NCBI Sequence Viewer  
  EAW58797 (Get FASTA)   NCBI Sequence Viewer  
  EAW58798 (Get FASTA)   NCBI Sequence Viewer  
  EAW58799 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000303847
  ENSP00000303847.2
  ENSP00000351574
  ENSP00000351574.2
  ENSP00000371414.2
  ENSP00000371434
  ENSP00000371434.3
  ENSP00000399352.1
  ENSP00000400026.1
  ENSP00000405664.1
  ENSP00000410988.1
  ENSP00000411756.1
  ENSP00000415594.1
  ENSP00000416189.1
  ENSP00000482598
  ENSP00000482598.1
GenBank Protein P48380 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_602304   ⟸   NM_134428
- Peptide Label: isoform b
- UniProtKB: Q95HL5 (UniProtKB/Swiss-Prot),   Q8WTU4 (UniProtKB/Swiss-Prot),   Q6NW13 (UniProtKB/Swiss-Prot),   Q5JTL8 (UniProtKB/Swiss-Prot),   Q5JTL7 (UniProtKB/Swiss-Prot),   D3DRH9 (UniProtKB/Swiss-Prot),   D3DRH8 (UniProtKB/Swiss-Prot),   A8K0H5 (UniProtKB/Swiss-Prot),   Q95HL6 (UniProtKB/Swiss-Prot),   P48380 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002910   ⟸   NM_002919
- Peptide Label: isoform a
- UniProtKB: P48380 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269045   ⟸   NM_001282116
- Peptide Label: isoform b
- UniProtKB: Q95HL5 (UniProtKB/Swiss-Prot),   Q8WTU4 (UniProtKB/Swiss-Prot),   Q6NW13 (UniProtKB/Swiss-Prot),   Q5JTL8 (UniProtKB/Swiss-Prot),   Q5JTL7 (UniProtKB/Swiss-Prot),   D3DRH9 (UniProtKB/Swiss-Prot),   D3DRH8 (UniProtKB/Swiss-Prot),   A8K0H5 (UniProtKB/Swiss-Prot),   Q95HL6 (UniProtKB/Swiss-Prot),   P48380 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269046   ⟸   NM_001282117
- Peptide Label: isoform c
- UniProtKB: P48380 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716903   ⟸   XM_006716840
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006716907   ⟸   XM_006716844
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006716906   ⟸   XM_006716843
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006716910   ⟸   XM_006716847
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011516300   ⟸   XM_011517998
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870489   ⟸   XM_017015000
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870491   ⟸   XM_017015002
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_024303400   ⟸   XM_024447632
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303399   ⟸   XM_024447631
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303398   ⟸   XM_024447630
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303403   ⟸   XM_024447635
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303402   ⟸   XM_024447634
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001364928   ⟸   NM_001377999
- Peptide Label: isoform d
RefSeq Acc Id: ENSP00000411756   ⟸   ENST00000451859
RefSeq Acc Id: ENSP00000410988   ⟸   ENST00000442560
RefSeq Acc Id: ENSP00000405664   ⟸   ENST00000457373
RefSeq Acc Id: ENSP00000400026   ⟸   ENST00000458034
RefSeq Acc Id: ENSP00000482598   ⟸   ENST00000617270
RefSeq Acc Id: ENSP00000416189   ⟸   ENST00000420720
RefSeq Acc Id: ENSP00000303847   ⟸   ENST00000302303
RefSeq Acc Id: ENSP00000399352   ⟸   ENST00000449190
RefSeq Acc Id: ENSP00000371414   ⟸   ENST00000381984
RefSeq Acc Id: ENSP00000415594   ⟸   ENST00000449234
RefSeq Acc Id: ENSP00000371434   ⟸   ENST00000382004
RefSeq Acc Id: ENSP00000351574   ⟸   ENST00000358730
RefSeq Acc Id: XP_047279657   ⟸   XM_047423701
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047279655   ⟸   XM_047423699
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047279652   ⟸   XM_047423696
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047279644   ⟸   XM_047423688
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279653   ⟸   XM_047423697
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279651   ⟸   XM_047423695
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047279650   ⟸   XM_047423694
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279648   ⟸   XM_047423692
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279649   ⟸   XM_047423693
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279654   ⟸   XM_047423698
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047279647   ⟸   XM_047423691
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279645   ⟸   XM_047423689
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279643   ⟸   XM_047423687
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279656   ⟸   XM_047423700
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279646   ⟸   XM_047423690
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279658   ⟸   XM_047423702
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219461   ⟸   XM_054363486
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054219449   ⟸   XM_054363474
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219453   ⟸   XM_054363478
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219452   ⟸   XM_054363477
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219442   ⟸   XM_054363467
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054219441   ⟸   XM_054363466
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054219456   ⟸   XM_054363481
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219457   ⟸   XM_054363482
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054219444   ⟸   XM_054363469
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054219450   ⟸   XM_054363475
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219451   ⟸   XM_054363476
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219447   ⟸   XM_054363472
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054219445   ⟸   XM_054363470
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054219454   ⟸   XM_054363479
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219455   ⟸   XM_054363480
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219446   ⟸   XM_054363471
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054219464   ⟸   XM_054363489
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054219466   ⟸   XM_054363491
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054219465   ⟸   XM_054363490
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054219463   ⟸   XM_054363488
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054219459   ⟸   XM_054363484
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054219458   ⟸   XM_054363483
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054219460   ⟸   XM_054363485
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219448   ⟸   XM_054363473
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219443   ⟸   XM_054363468
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219462   ⟸   XM_054363487
- Peptide Label: isoform X12
Protein Domains
RFX-type winged-helix   RFX1 transcription activation region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48380-F1-model_v2 AlphaFold P48380 1-749 view protein structure

Promoters
RGD ID:7214577
Promoter ID:EPDNEW_H13034
Type:multiple initiation site
Name:RFX3_2
Description:regulatory factor X3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13035  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,473,651 - 3,473,711EPDNEW
RGD ID:6813692
Promoter ID:HG_ACW:79599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:RFX3.KAPR07,   RFX3.SAPR07,   RFX3.VFAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3693,514,686 - 3,515,277 (-)MPROMDB
RGD ID:6807475
Promoter ID:HG_KWN:62474
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:ENST00000381985,   ENST00000381986,   ENST00000381992,   ENST00000397849,   NM_002919,   OTTHUMT00000051543,   OTTHUMT00000051545,   UC010MHD.1,   UC010MHE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3693,515,586 - 3,516,972 (-)MPROMDB
RGD ID:7214579
Promoter ID:EPDNEW_H13035
Type:initiation region
Name:RFX3_1
Description:regulatory factor X3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13034  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3893,526,001 - 3,526,061EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9984 AgrOrtholog
COSMIC RFX3 COSMIC
Ensembl Genes ENSG00000080298 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302303 ENTREZGENE
  ENST00000302303.5 UniProtKB/Swiss-Prot
  ENST00000358730 ENTREZGENE
  ENST00000358730.6 UniProtKB/Swiss-Prot
  ENST00000381984.2 UniProtKB/TrEMBL
  ENST00000382004 ENTREZGENE
  ENST00000382004.7 UniProtKB/Swiss-Prot
  ENST00000420720.5 UniProtKB/TrEMBL
  ENST00000442560.5 UniProtKB/TrEMBL
  ENST00000449190.5 UniProtKB/TrEMBL
  ENST00000449234.1 UniProtKB/TrEMBL
  ENST00000451859.5 UniProtKB/TrEMBL
  ENST00000457373.5 UniProtKB/TrEMBL
  ENST00000458034.1 UniProtKB/TrEMBL
  ENST00000617270 ENTREZGENE
  ENST00000617270.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080298 GTEx
HGNC ID HGNC:9984 ENTREZGENE
Human Proteome Map RFX3 Human Proteome Map
InterPro DNA-bd_RFX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RFX-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RFX1_trans_act UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5991 UniProtKB/Swiss-Prot
NCBI Gene 5991 ENTREZGENE
OMIM 601337 OMIM
PANTHER PTHR12619 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION FACTOR RFX3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RFX1_trans_act UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RFX_DNA_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34354 PharmGKB
PROSITE RFX_DBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0H5 ENTREZGENE
  A9Z1Z2_HUMAN UniProtKB/TrEMBL
  D3DRH8 ENTREZGENE
  D3DRH9 ENTREZGENE
  F6UGA0_HUMAN UniProtKB/TrEMBL
  F6USP3_HUMAN UniProtKB/TrEMBL
  F6UV76_HUMAN UniProtKB/TrEMBL
  F6XM74_HUMAN UniProtKB/TrEMBL
  H0Y790_HUMAN UniProtKB/TrEMBL
  H0Y7W5_HUMAN UniProtKB/TrEMBL
  H0Y7Z4_HUMAN UniProtKB/TrEMBL
  P48380 ENTREZGENE
  Q5JTL7 ENTREZGENE
  Q5JTL8 ENTREZGENE
  Q6NW13 ENTREZGENE
  Q8WTU4 ENTREZGENE
  Q95HL5 ENTREZGENE
  Q95HL6 ENTREZGENE
  RFX3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K0H5 UniProtKB/Swiss-Prot
  D3DRH8 UniProtKB/Swiss-Prot
  D3DRH9 UniProtKB/Swiss-Prot
  F6SLT7 UniProtKB/TrEMBL
  Q5JTL7 UniProtKB/Swiss-Prot
  Q5JTL8 UniProtKB/Swiss-Prot
  Q6NW13 UniProtKB/Swiss-Prot
  Q8WTU4 UniProtKB/Swiss-Prot
  Q95HL5 UniProtKB/Swiss-Prot
  Q95HL6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 RFX3  regulatory factor X3  RFX3  regulatory factor X, 3 (influences HLA class II expression)  Symbol and/or name change 5135510 APPROVED