MCF2 (MCF.2 cell line derived transforming sequence) - Rat Genome Database

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Gene: MCF2 (MCF.2 cell line derived transforming sequence) Homo sapiens
Analyze
Symbol: MCF2
Name: MCF.2 cell line derived transforming sequence
RGD ID: 1345996
HGNC Page HGNC
Description: Predicted to have guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including negative regulation of axonogenesis; positive regulation of apoptotic process; and regulation of small GTPase mediated signal transduction. Predicted to localize to cytoskeleton and cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARHGEF21; DBL; Oncogene MCF2 (oncogene DBL); proto-oncogene DBL; proto-oncogene MCF-2
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
GRCh38.p13 EnsemblX139,581,770 - 139,708,227 (-)EnsemblGRCh38hg38GRCh38
GRCh38X139,581,768 - 139,708,279 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,663,929 - 138,790,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,491,596 - 138,618,047 (-)NCBINCBI36hg18NCBI36
Build 34X138,389,449 - 138,450,372NCBI
CeleraX139,031,369 - 139,157,817 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX127,931,315 - 128,057,565 (-)NCBIHuRef
CHM1_1X138,574,821 - 138,701,280 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoskeleton  (TAS)
cytosol  (TAS)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1611909   PMID:2065022   PMID:2577874   PMID:2613238   PMID:3056717   PMID:3281159   PMID:3491366   PMID:8276860   PMID:9681826   PMID:10403766   PMID:10518015   PMID:10652228  
PMID:10854437   PMID:10925207   PMID:11062019   PMID:11134331   PMID:11756498   PMID:11907027   PMID:12376548   PMID:12376551   PMID:12445822   PMID:12787561   PMID:13679059   PMID:15772651  
PMID:16344560   PMID:17178836   PMID:17538024   PMID:17606614   PMID:18470881   PMID:18728402   PMID:19373475   PMID:20479760   PMID:21712385   PMID:22984590   PMID:23376485   PMID:25723869  
PMID:31416844   PMID:32203420  


Genomics

Comparative Map Data
MCF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX139,581,770 - 139,708,227 (-)EnsemblGRCh38hg38GRCh38
GRCh38X139,581,768 - 139,708,279 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,663,929 - 138,790,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,491,596 - 138,618,047 (-)NCBINCBI36hg18NCBI36
Build 34X138,389,449 - 138,450,372NCBI
CeleraX139,031,369 - 139,157,817 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX127,931,315 - 128,057,565 (-)NCBIHuRef
CHM1_1X138,574,821 - 138,701,280 (-)NCBICHM1_1
Mcf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X59,101,316 - 59,224,546 (-)NCBIGRCm39mm39
GRCm39 EnsemblX59,101,316 - 59,224,449 (-)Ensembl
GRCm38X60,055,956 - 60,179,184 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX60,055,956 - 60,179,089 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X57,309,133 - 57,400,820 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X56,402,743 - 56,494,427 (-)NCBImm8
CeleraX46,495,004 - 46,586,548 (-)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX33.5NCBI
Mcf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X138,414,077 - 138,514,828 (-)NCBI
Rnor_6.0 EnsemblX143,154,209 - 143,274,180 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X143,159,071 - 143,292,467 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X143,188,541 - 143,236,007 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X145,597,430 - 145,693,790 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX134,485,013 - 134,591,931 (-)NCBICelera
Cytogenetic MapXq36NCBI
Mcf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554895,665,530 - 5,709,891 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554895,613,310 - 5,715,688 (+)NCBIChiLan1.0ChiLan1.0
MCF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X138,985,456 - 139,047,015 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX138,984,632 - 139,096,066 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X128,737,271 - 128,848,384 (-)NCBIMhudiblu_PPA_v0panPan3
MCF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X109,543,609 - 109,627,265 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX109,545,245 - 109,627,260 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX95,370,950 - 95,454,589 (-)NCBI
ROS_Cfam_1.0X111,530,138 - 111,601,036 (-)NCBI
UMICH_Zoey_3.1X108,664,168 - 108,747,786 (-)NCBI
UNSW_CanFamBas_1.0X110,848,683 - 110,932,293 (-)NCBI
UU_Cfam_GSD_1.0X110,528,154 - 110,611,768 (-)NCBI
Mcf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X107,580,518 - 107,707,380 (-)NCBI
SpeTri2.0NW_0049365137,950,082 - 8,035,421 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX114,258,072 - 114,356,146 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X114,258,082 - 114,356,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X130,456,205 - 130,575,812 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCF2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X114,670,397 - 114,795,400 (-)NCBI
ChlSab1.1 EnsemblX114,670,454 - 114,776,957 (-)Ensembl
Mcf2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248087,010,020 - 7,116,752 (+)NCBI

Position Markers
DXS9752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,664,266 - 138,664,524UniSTSGRCh37
Build 36X138,491,932 - 138,492,190RGDNCBI36
CeleraX139,031,705 - 139,031,963RGD
Cytogenetic MapXq27UniSTS
HuRefX127,931,651 - 127,931,909UniSTS
GeneMap99-G3 RH MapX4259.0UniSTS
WI-14785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,724,700 - 138,724,849UniSTSGRCh37
Build 36X138,552,366 - 138,552,515RGDNCBI36
CeleraX139,092,136 - 139,092,285RGD
Cytogenetic MapXq27UniSTS
GeneMap99-GB4 RH MapX323.06UniSTS
Whitehead-RH MapX300.0UniSTS
AL032612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,699,687 - 138,699,831UniSTSGRCh37
Build 36X138,527,353 - 138,527,497RGDNCBI36
CeleraX139,067,121 - 139,067,265RGD
Cytogenetic MapXq27UniSTS
HuRefX127,966,730 - 127,966,874UniSTS
AL032592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,779,920 - 138,780,017UniSTSGRCh37
Build 36X138,607,586 - 138,607,683RGDNCBI36
CeleraX139,147,356 - 139,147,453RGD
Cytogenetic MapXq27UniSTS
HuRefX128,047,105 - 128,047,202UniSTS
UniSTS:99307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,724,771 - 138,725,048UniSTSGRCh37
Build 36X138,552,437 - 138,552,714RGDNCBI36
CeleraX139,092,207 - 139,092,484RGD
MCF2__7384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,663,820 - 138,664,632UniSTSGRCh37
Build 36X138,491,486 - 138,492,298RGDNCBI36
CeleraX139,031,259 - 139,032,071RGD
HuRefX127,931,205 - 127,932,017UniSTS
STS-X12556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,664,180 - 138,664,349UniSTSGRCh37
Build 36X138,491,846 - 138,492,015RGDNCBI36
CeleraX139,031,619 - 139,031,788RGD
Cytogenetic MapXq27UniSTS
HuRefX127,931,565 - 127,931,734UniSTS
GeneMap99-GB4 RH MapX323.06UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3268
Count of miRNA genes:533
Interacting mature miRNAs:608
Transcripts:ENST00000338585, ENST00000370573, ENST00000370576, ENST00000370578, ENST00000414978, ENST00000437564, ENST00000446225, ENST00000483690, ENST00000519895, ENST00000520602, ENST00000536274
Prediction methods:Microtar, Miranda, Pita, 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.


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
High
Medium 173 1 1 117 334 1
Low 113 871 592 10 643 9 353 161 2889 141 478 284 3 19 151
Below cutoff 2176 2071 864 525 1213 366 3665 1840 699 222 549 1168 162 1 1179 2413 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB085901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB085902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA391685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA723464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC298193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338585   ⟹   ENSP00000342204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,582,471 - 139,642,518 (-)Ensembl
RefSeq Acc Id: ENST00000370573   ⟹   ENSP00000359605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,582,443 - 139,642,518 (-)Ensembl
RefSeq Acc Id: ENST00000370576   ⟹   ENSP00000359608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,581,770 - 139,642,903 (-)Ensembl
RefSeq Acc Id: ENST00000414978   ⟹   ENSP00000397055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,581,771 - 139,708,216 (-)Ensembl
RefSeq Acc Id: ENST00000437564   ⟹   ENSP00000403271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,581,771 - 139,605,779 (-)Ensembl
RefSeq Acc Id: ENST00000446225   ⟹   ENSP00000405848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,582,142 - 139,615,052 (-)Ensembl
RefSeq Acc Id: ENST00000483690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,607,184 - 139,614,950 (-)Ensembl
RefSeq Acc Id: ENST00000519895   ⟹   ENSP00000430276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,582,297 - 139,708,227 (-)Ensembl
RefSeq Acc Id: ENST00000520602   ⟹   ENSP00000427745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,581,770 - 139,692,156 (-)Ensembl
RefSeq Acc Id: ENST00000536274   ⟹   ENSP00000438155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,581,771 - 139,642,841 (-)Ensembl
RefSeq Acc Id: NM_001099855   ⟹   NP_001093325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,708,167 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
Build 36X138,491,596 - 138,618,047 (-)NCBI Archive
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,701,280 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171876   ⟹   NP_001165347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,708,167 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,701,280 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171877   ⟹   NP_001165348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,642,903 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,635,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171878   ⟹   NP_001165349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,642,903 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,635,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171879   ⟹   NP_001165350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,642,903 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,635,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005369   ⟹   NP_005360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,770 - 139,642,903 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)ENTREZGENE
Build 36X138,491,596 - 138,552,637 (-)NCBI Archive
HuRefX127,931,315 - 128,057,565 (-)ENTREZGENE
CHM1_1X138,574,821 - 138,635,877 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262413   ⟹   XP_005262470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,708,279 (-)NCBI
GRCh37X138,663,930 - 138,790,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531339   ⟹   XP_011529641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,708,279 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029529   ⟹   XP_016885018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,692,000 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029530   ⟹   XP_016885019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,692,000 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029531   ⟹   XP_016885020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,656,715 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029532   ⟹   XP_016885021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,581,768 - 139,642,866 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001093325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165347 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165348 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165349 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165350 (Get FASTA)   NCBI Sequence Viewer  
  NP_005360 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262470 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529641 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885018 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885019 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885020 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885021 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52172 (Get FASTA)   NCBI Sequence Viewer  
  BAC41200 (Get FASTA)   NCBI Sequence Viewer  
  BAC41201 (Get FASTA)   NCBI Sequence Viewer  
  BAG36623 (Get FASTA)   NCBI Sequence Viewer  
  BAH12371 (Get FASTA)   NCBI Sequence Viewer  
  BAH12378 (Get FASTA)   NCBI Sequence Viewer  
  BAH13855 (Get FASTA)   NCBI Sequence Viewer  
  BAH14787 (Get FASTA)   NCBI Sequence Viewer  
  CAA31069 (Get FASTA)   NCBI Sequence Viewer  
  CAA31617 (Get FASTA)   NCBI Sequence Viewer  
  CAB55301 (Get FASTA)   NCBI Sequence Viewer  
  EAW88426 (Get FASTA)   NCBI Sequence Viewer  
  EAW88427 (Get FASTA)   NCBI Sequence Viewer  
  EAW88428 (Get FASTA)   NCBI Sequence Viewer  
  EAW88429 (Get FASTA)   NCBI Sequence Viewer  
  EAW88430 (Get FASTA)   NCBI Sequence Viewer  
  P10911 (Get FASTA)   NCBI Sequence Viewer  
  SPT35769 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001093325   ⟸   NM_001099855
- Peptide Label: isoform a
- UniProtKB: P10911 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165347   ⟸   NM_001171876
- Peptide Label: isoform c
- UniProtKB: P10911 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165348   ⟸   NM_001171877
- Peptide Label: isoform d
- UniProtKB: P10911 (UniProtKB/Swiss-Prot),   B2R9S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165349   ⟸   NM_001171878
- Peptide Label: isoform e
- UniProtKB: P10911 (UniProtKB/Swiss-Prot),   B2R9S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005360   ⟸   NM_005369
- Peptide Label: isoform b
- UniProtKB: P10911 (UniProtKB/Swiss-Prot),   B2R9S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165350   ⟸   NM_001171879
- Peptide Label: isoform f
- UniProtKB: P10911 (UniProtKB/Swiss-Prot),   B2R9S6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262470   ⟸   XM_005262413
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529641   ⟸   XM_011531339
- Peptide Label: isoform X4
- UniProtKB: P10911 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885019   ⟸   XM_017029530
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885018   ⟸   XM_017029529
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885020   ⟸   XM_017029531
- Peptide Label: isoform X4
- UniProtKB: P10911 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885021   ⟸   XM_017029532
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000359605   ⟸   ENST00000370573
RefSeq Acc Id: ENSP00000359608   ⟸   ENST00000370576
RefSeq Acc Id: ENSP00000430276   ⟸   ENST00000519895
RefSeq Acc Id: ENSP00000397055   ⟸   ENST00000414978
RefSeq Acc Id: ENSP00000342204   ⟸   ENST00000338585
RefSeq Acc Id: ENSP00000427745   ⟸   ENST00000520602
RefSeq Acc Id: ENSP00000438155   ⟸   ENST00000536274
RefSeq Acc Id: ENSP00000405848   ⟸   ENST00000446225
RefSeq Acc Id: ENSP00000403271   ⟸   ENST00000437564
Protein Domains
CRAL-TRIO   DH   PH

Promoters
RGD ID:13628244
Promoter ID:EPDNEW_H29397
Type:multiple initiation site
Name:MCF2_1
Description:MCF.2 cell line derived transforming sequence
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,642,681 - 139,642,741EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_005369.4(MCF2):c.288+348T>A single nucleotide variant Lung cancer [RCV000102379] ChrX:139631047 [GRCh38]
ChrX:138713206 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_005369.4(MCF2):c.171+292T>C single nucleotide variant Lung cancer [RCV000102380] ChrX:139632043 [GRCh38]
ChrX:138714202 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139333024-140959375)x0 copy number loss See cases [RCV000051734] ChrX:139333024..140959375 [GRCh38]
ChrX:138415183..139986362 [GRCh37]
ChrX:138242849..139869206 [NCBI36]
ChrX:Xq27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139199307-139682289)x2 copy number gain See cases [RCV000054280] ChrX:139199307..139682289 [GRCh38]
ChrX:138281469..138764448 [GRCh37]
ChrX:138109135..138592114 [NCBI36]
ChrX:Xq27.1
uncertain significance
GRCh38/hg38 Xq27.1(chrX:139605696-140302516)x3 copy number gain See cases [RCV000054281] ChrX:139605696..140302516 [GRCh38]
ChrX:138687855..139384681 [GRCh37]
ChrX:138515521..139212347 [NCBI36]
ChrX:Xq27.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139698609-140201321)x3 copy number gain See cases [RCV000133714] ChrX:139698609..140201321 [GRCh38]
ChrX:138780768..139283477 [GRCh37]
ChrX:138608434..139111143 [NCBI36]
ChrX:Xq27.1
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005369.5(MCF2):c.1780A>G (p.Asn594Asp) single nucleotide variant not provided [RCV000914501]|not specified [RCV000418878] ChrX:139602462 [GRCh38]
ChrX:138684621 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3 copy number gain See cases [RCV000511988] ChrX:138768091..140805967 [GRCh37]
ChrX:Xq27.1-27.2
likely benign
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138325952-138931001)x3 copy number gain not provided [RCV000684396] ChrX:138325952..138931001 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138575424-139059289)x2 copy number gain not provided [RCV000684398] ChrX:138575424..139059289 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1 copy number loss not provided [RCV000684394] ChrX:136399075..139504489 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2 copy number gain not provided [RCV000684395] ChrX:138126026..138891563 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138769551-139108503)x3 copy number gain not provided [RCV000684399] ChrX:138769551..139108503 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138657651-138792333)x3 copy number gain not provided [RCV000753808] ChrX:138657651..138792333 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq27.1(chrX:138694139-139097345)x2 copy number gain not provided [RCV000753809] ChrX:138694139..139097345 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_005369.5(MCF2):c.2363T>C (p.Ile788Thr) single nucleotide variant not provided [RCV000958375] ChrX:139589842 [GRCh38]
ChrX:138672001 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_005369.5(MCF2):c.1099G>A (p.Glu367Lys) single nucleotide variant not provided [RCV000882436] ChrX:139616374 [GRCh38]
ChrX:138698533 [GRCh37]
ChrX:Xq27.1
likely benign
NM_005369.5(MCF2):c.2371-10del deletion not provided [RCV000951363] ChrX:139588448 [GRCh38]
ChrX:138670607 [GRCh37]
ChrX:Xq27.1
benign
NM_005369.5(MCF2):c.2126G>T (p.Gly709Val) single nucleotide variant not provided [RCV000973005] ChrX:139596700 [GRCh38]
ChrX:138678859 [GRCh37]
ChrX:Xq27.1
benign
NM_005369.5(MCF2):c.117G>A (p.Thr39=) single nucleotide variant not provided [RCV000973006] ChrX:139632389 [GRCh38]
ChrX:138714548 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005369.5(MCF2):c.172-5T>C single nucleotide variant not provided [RCV000972572] ChrX:139631516 [GRCh38]
ChrX:138713675 [GRCh37]
ChrX:Xq27.1
benign
NM_005369.5(MCF2):c.937G>A (p.Glu313Lys) single nucleotide variant not provided [RCV000884276] ChrX:139617575 [GRCh38]
ChrX:138699734 [GRCh37]
ChrX:Xq27.1
benign
NM_005369.5(MCF2):c.*15C>G single nucleotide variant not provided [RCV000958374] ChrX:139582456 [GRCh38]
ChrX:138664615 [GRCh37]
ChrX:Xq27.1
benign
NM_005369.5(MCF2):c.1192-5C>T single nucleotide variant not provided [RCV000958376] ChrX:139615057 [GRCh38]
ChrX:138697216 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq27.1(chrX:138377936-138702368)x2 copy number gain not provided [RCV000845889] ChrX:138377936..138702368 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138655347-139306763)x2 copy number gain not provided [RCV000849148] ChrX:138655347..139306763 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_138612860)_(139587225_?)del deletion Hereditary factor IX deficiency disease [RCV000823961] ChrX:138612860..139587225 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_005369.5(MCF2):c.729A>G (p.Glu243=) single nucleotide variant not provided [RCV000883603] ChrX:139619665 [GRCh38]
ChrX:138701824 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq27.1(chrX:138739715-139210619)x2 copy number gain not provided [RCV001007350] ChrX:138739715..139210619 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6940 AgrOrtholog
COSMIC MCF2 COSMIC
Ensembl Genes ENSG00000101977 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342204 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359605 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359608 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397055 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403271 UniProtKB/TrEMBL
  ENSP00000405848 UniProtKB/TrEMBL
  ENSP00000427745 UniProtKB/TrEMBL
  ENSP00000430276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438155 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000338585 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370576 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414978 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000437564 UniProtKB/TrEMBL
  ENST00000446225 UniProtKB/TrEMBL
  ENST00000519895 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520602 UniProtKB/TrEMBL
  ENST00000536274 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101977 GTEx
HGNC ID HGNC:6940 ENTREZGENE
Human Proteome Map MCF2 Human Proteome Map
InterPro CRAL-TRIO_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRAL-TRIO_dom_sf UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDS_CDC24_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4168 ENTREZGENE
OMIM 311030 OMIM
Pfam CRAL_TRIO_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30684 PharmGKB
PROSITE CRAL_TRIO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEC14 UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52087 UniProtKB/TrEMBL
UniProt A0A2U3TZL4_HUMAN UniProtKB/TrEMBL
  A0A2X0SZ10_HUMAN UniProtKB/TrEMBL
  B2R9S6 ENTREZGENE, UniProtKB/TrEMBL
  H0Y662_HUMAN UniProtKB/TrEMBL
  MCF2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JYJ5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z3Y5 UniProtKB/Swiss-Prot
  B7Z869 UniProtKB/Swiss-Prot
  B7ZAV1 UniProtKB/Swiss-Prot
  E9PH77 UniProtKB/Swiss-Prot
  F5H091 UniProtKB/Swiss-Prot
  P14919 UniProtKB/Swiss-Prot
  Q5JYJ2 UniProtKB/Swiss-Prot
  Q5JYJ3 UniProtKB/Swiss-Prot
  Q5JYJ4 UniProtKB/Swiss-Prot
  Q8IUF3 UniProtKB/Swiss-Prot
  Q8IUF4 UniProtKB/Swiss-Prot
  Q9UJB3 UniProtKB/Swiss-Prot