MORF4L2 (mortality factor 4 like 2) - Rat Genome Database

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Gene: MORF4L2 (mortality factor 4 like 2) Homo sapiens
Analyze
Symbol: MORF4L2
Name: mortality factor 4 like 2
RGD ID: 1347861
HGNC Page HGNC
Description: Predicted to be involved in chromatin organization. Localizes to nucleolus; nucleoplasm; and plasma membrane; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; INTERACTS WITH (+)-catechin; 5-azacytidine; 5-fluorouracil.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: KIAA0026; MORF-related gene X protein; MORFL2; mortality factor 4-like protein 2; MRGX; MSL3-2 protein; protein MSL3-2; transcription factor-like protein MRGX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MORF4L2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX103,675,496 - 103,688,158 (-)EnsemblGRCh38hg38GRCh38
GRCh38X103,675,498 - 103,688,047 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X102,930,426 - 102,942,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,817,089 - 102,828,252 (-)NCBINCBI36hg18NCBI36
Build 34X102,736,577 - 102,747,741NCBI
CeleraX103,369,434 - 103,382,094 (-)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,587,851 - 92,600,511 (-)NCBIHuRef
CHM1_1X102,823,433 - 102,836,101 (-)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:8125298   PMID:9891081   PMID:10942595   PMID:11988016   PMID:12391155   PMID:12477932   PMID:12963728   PMID:14506250   PMID:14702039   PMID:15489334  
PMID:15647280   PMID:15772651   PMID:16230350   PMID:16341674   PMID:16344560   PMID:17353931   PMID:17573780   PMID:18593893   PMID:19553677   PMID:20332121   PMID:20850016   PMID:21466675  
PMID:21516116   PMID:21873635   PMID:21903422   PMID:24104479   PMID:24332808   PMID:25036637   PMID:25184681   PMID:25281560   PMID:25416956   PMID:25544563   PMID:25609649   PMID:25720964  
PMID:25796627   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26841866   PMID:27025967   PMID:27153538   PMID:27634302   PMID:28514442   PMID:28515276   PMID:28695742  
PMID:29028833   PMID:29180619   PMID:29229926   PMID:29845934   PMID:30209976   PMID:30804502   PMID:31059266   PMID:31239290   PMID:31515488   PMID:31527615   PMID:31540324   PMID:31586073  
PMID:31753913   PMID:31822558   PMID:32296183   PMID:32814053   PMID:33011223  


Genomics

Comparative Map Data
MORF4L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX103,675,496 - 103,688,158 (-)EnsemblGRCh38hg38GRCh38
GRCh38X103,675,498 - 103,688,047 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X102,930,426 - 102,942,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,817,089 - 102,828,252 (-)NCBINCBI36hg18NCBI36
Build 34X102,736,577 - 102,747,741NCBI
CeleraX103,369,434 - 103,382,094 (-)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,587,851 - 92,600,511 (-)NCBIHuRef
CHM1_1X102,823,433 - 102,836,101 (-)NCBICHM1_1
Morf4l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X135,633,691 - 135,644,435 (-)NCBIGRCm39mm39
GRCm39 EnsemblX135,633,691 - 135,644,439 (-)Ensembl
GRCm38X136,732,942 - 136,743,686 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX136,732,942 - 136,743,690 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X133,267,481 - 133,278,225 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X132,079,306 - 132,087,973 (-)NCBImm8
CeleraX120,016,542 - 120,027,206 (-)NCBICelera
Cytogenetic MapXF1NCBI
Morf4l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X100,082,562 - 100,093,658 (-)NCBI
Rnor_6.0 EnsemblX107,394,486 - 107,405,564 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X107,394,468 - 107,405,564 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X107,278,227 - 107,289,323 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X124,382,809 - 124,393,906 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X124,456,246 - 124,467,339 (-)NCBI
CeleraX100,917,630 - 100,928,726 (-)NCBICelera
Cytogenetic MapXq32NCBI
Morf4l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955548682,409 - 685,886 (-)NCBIChiLan1.0ChiLan1.0
MORF4L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X103,285,742 - 103,298,493 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X92,904,721 - 92,917,340 (-)NCBIMhudiblu_PPA_v0panPan3
MORF4L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X77,084,940 - 77,097,900 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX77,085,599 - 77,086,465 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX63,313,892 - 63,326,779 (-)NCBI
ROS_Cfam_1.0X78,703,679 - 78,716,574 (-)NCBI
UMICH_Zoey_3.1X76,180,997 - 76,193,933 (-)NCBI
UNSW_CanFamBas_1.0X77,867,801 - 77,880,688 (-)NCBI
UU_Cfam_GSD_1.0X77,634,885 - 77,647,774 (-)NCBI
Morf4l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X77,010,522 - 77,021,237 (-)NCBI
SpeTri2.0NW_00493649910,636,711 - 10,647,442 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MORF4L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX84,552,705 - 84,569,030 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X84,553,770 - 84,566,304 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X98,342,575 - 98,355,075 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MORF4L2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X91,566,051 - 91,579,084 (-)NCBI
ChlSab1.1 EnsemblX91,566,712 - 91,567,575 (-)Ensembl
Morf4l2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624954246,881 - 258,360 (+)NCBI

Position Markers
SHGC-30053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X102,930,480 - 102,930,579UniSTSGRCh37
Build 36X102,817,136 - 102,817,235RGDNCBI36
CeleraX103,369,488 - 103,369,587RGD
Cytogenetic MapXq22UniSTS
HuRefX92,587,905 - 92,588,004UniSTS
TNG Radiation Hybrid MapX21626.0UniSTS
GeneMap99-G3 RH MapX3205.0UniSTS
RH25264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37454,953,195 - 54,953,376UniSTSGRCh37
GRCh37X102,931,667 - 102,931,846UniSTSGRCh37
Build 36X102,818,323 - 102,818,502RGDNCBI36
Celera452,452,873 - 52,453,054UniSTS
CeleraX103,370,675 - 103,370,854RGD
Cytogenetic Map4q12UniSTS
Cytogenetic MapXq22UniSTS
HuRef450,900,156 - 50,900,337UniSTS
HuRefX92,589,091 - 92,589,270UniSTS
RH126514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X102,930,474 - 102,930,718UniSTSGRCh37
Build 36X102,817,130 - 102,817,374RGDNCBI36
CeleraX103,369,482 - 103,369,726RGD
HuRefX92,587,899 - 92,588,142UniSTS
DXS7488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X102,930,491 - 102,930,824UniSTSGRCh37
Build 36X102,817,147 - 102,817,480RGDNCBI36
CeleraX103,369,499 - 103,369,832RGD
Cytogenetic MapXq22UniSTS
HuRefX92,587,916 - 92,588,248UniSTS
TNG Radiation Hybrid MapX21626.0UniSTS
GeneMap99-GB4 RH MapX277.43UniSTS
Whitehead-RH MapX265.0UniSTS
NCBI RH MapX539.9UniSTS
GeneMap99-G3 RH MapX3205.0UniSTS
RH17381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X102,930,502 - 102,930,758UniSTSGRCh37
Build 36X102,817,158 - 102,817,414RGDNCBI36
CeleraX103,369,510 - 103,369,766RGD
Cytogenetic MapXq22UniSTS
HuRefX92,587,927 - 92,588,182UniSTS
GeneMap99-GB4 RH MapX277.43UniSTS
NCBI RH MapX536.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5011
Count of miRNA genes:1031
Interacting mature miRNAs:1211
Transcripts:ENST00000360458, ENST00000418819, ENST00000422154, ENST00000422355, ENST00000423833, ENST00000433176, ENST00000434230, ENST00000441076, ENST00000442614, ENST00000451301, ENST00000467755, ENST00000474653, ENST00000488331, ENST00000492116, ENST00000498064
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 pharyngeal arch
High 1 4 1 2 20
Medium 2439 2855 1725 624 1830 465 4353 2181 3733 417 1440 1613 175 1 1204 2788 6 2
Low 136 121 15 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB050779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF167174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM471743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM835303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA068448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA268606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA987770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC301727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC366195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC419967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC424668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360458   ⟹   ENSP00000353643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,675,496 - 103,688,064 (-)Ensembl
RefSeq Acc Id: ENST00000418819   ⟹   ENSP00000393283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,497 - 103,688,041 (-)Ensembl
RefSeq Acc Id: ENST00000422154   ⟹   ENSP00000394417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,675,500 - 103,686,818 (-)Ensembl
RefSeq Acc Id: ENST00000422355   ⟹   ENSP00000408607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,826 - 103,686,705 (-)Ensembl
RefSeq Acc Id: ENST00000423833   ⟹   ENSP00000416120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,161 - 103,676,931 (-)Ensembl
RefSeq Acc Id: ENST00000433176   ⟹   ENSP00000415476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,675,500 - 103,688,158 (-)Ensembl
RefSeq Acc Id: ENST00000434230   ⟹   ENSP00000413664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,495 - 103,688,038 (-)Ensembl
RefSeq Acc Id: ENST00000441076   ⟹   ENSP00000391969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,675,498 - 103,686,699 (-)Ensembl
RefSeq Acc Id: ENST00000442614   ⟹   ENSP00000400938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,554 - 103,686,709 (-)Ensembl
RefSeq Acc Id: ENST00000451301   ⟹   ENSP00000410532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,675,500 - 103,686,818 (-)Ensembl
RefSeq Acc Id: ENST00000467755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,979 - 103,686,684 (-)Ensembl
RefSeq Acc Id: ENST00000474653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,916 - 103,685,505 (-)Ensembl
RefSeq Acc Id: ENST00000488331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,684,974 - 103,688,027 (-)Ensembl
RefSeq Acc Id: ENST00000492116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,694 - 103,688,122 (-)Ensembl
RefSeq Acc Id: ENST00000498064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX103,676,979 - 103,686,816 (-)Ensembl
RefSeq Acc Id: NM_001142418   ⟹   NP_001135890
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142419   ⟹   NP_001135891
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142420   ⟹   NP_001135892
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142421   ⟹   NP_001135893
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142422   ⟹   NP_001135894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142423   ⟹   NP_001135895
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142424   ⟹   NP_001135896
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142425   ⟹   NP_001135897
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142426   ⟹   NP_001135898
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142427   ⟹   NP_001135899
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142428   ⟹   NP_001135900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142429   ⟹   NP_001135901
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142430   ⟹   NP_001135902
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142431   ⟹   NP_001135903
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142432   ⟹   NP_001135904
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,688,047 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,836,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012286   ⟹   NP_036418
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X103,675,498 - 103,686,699 (-)NCBI
GRCh37X102,930,426 - 102,943,086 (-)RGD
Build 36X102,817,089 - 102,828,252 (-)NCBI Archive
CeleraX103,369,434 - 103,382,094 (-)RGD
HuRefX92,587,851 - 92,600,511 (-)ENTREZGENE
CHM1_1X102,823,433 - 102,834,761 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001135890 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135892 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135893 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135895 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135897 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135900 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135901 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135903 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135904 (Get FASTA)   NCBI Sequence Viewer  
  NP_036418 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD29873 (Get FASTA)   NCBI Sequence Viewer  
  AAF80855 (Get FASTA)   NCBI Sequence Viewer  
  AAH56899 (Get FASTA)   NCBI Sequence Viewer  
  AAH93013 (Get FASTA)   NCBI Sequence Viewer  
  BAA03553 (Get FASTA)   NCBI Sequence Viewer  
  BAC22659 (Get FASTA)   NCBI Sequence Viewer  
  BAD97224 (Get FASTA)   NCBI Sequence Viewer  
  BAG51604 (Get FASTA)   NCBI Sequence Viewer  
  BAG54288 (Get FASTA)   NCBI Sequence Viewer  
  BAG54326 (Get FASTA)   NCBI Sequence Viewer  
  BAG63470 (Get FASTA)   NCBI Sequence Viewer  
  EAW54697 (Get FASTA)   NCBI Sequence Viewer  
  EAW54698 (Get FASTA)   NCBI Sequence Viewer  
  EAW54699 (Get FASTA)   NCBI Sequence Viewer  
  EAW54700 (Get FASTA)   NCBI Sequence Viewer  
  EAW54701 (Get FASTA)   NCBI Sequence Viewer  
  Q15014 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001135894   ⟸   NM_001142422
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135899   ⟸   NM_001142427
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135900   ⟸   NM_001142428
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135903   ⟸   NM_001142431
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135904   ⟸   NM_001142432
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135891   ⟸   NM_001142419
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135892   ⟸   NM_001142420
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135893   ⟸   NM_001142421
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135895   ⟸   NM_001142423
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135896   ⟸   NM_001142424
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135897   ⟸   NM_001142425
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135898   ⟸   NM_001142426
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135901   ⟸   NM_001142429
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135902   ⟸   NM_001142430
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036418   ⟸   NM_012286
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135890   ⟸   NM_001142418
- UniProtKB: Q15014 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000416120   ⟸   ENST00000423833
RefSeq Acc Id: ENSP00000410532   ⟸   ENST00000451301
RefSeq Acc Id: ENSP00000353643   ⟸   ENST00000360458
RefSeq Acc Id: ENSP00000391969   ⟸   ENST00000441076
RefSeq Acc Id: ENSP00000400938   ⟸   ENST00000442614
RefSeq Acc Id: ENSP00000393283   ⟸   ENST00000418819
RefSeq Acc Id: ENSP00000415476   ⟸   ENST00000433176
RefSeq Acc Id: ENSP00000413664   ⟸   ENST00000434230
RefSeq Acc Id: ENSP00000408607   ⟸   ENST00000422355
RefSeq Acc Id: ENSP00000394417   ⟸   ENST00000422154
Protein Domains
MRG

Promoters
RGD ID:6808712
Promoter ID:HG_KWN:67619
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000372620,   UC010NOS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X102,817,836 - 102,820,862 (-)MPROMDB
RGD ID:6809085
Promoter ID:HG_KWN:67620
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:NM_001142418,   NM_001142423,   NM_001142424,   NM_001142425,   NM_001142426,   NM_001142429,   NM_001142430,   NM_012286,   OTTHUMT00000057727,   OTTHUMT00000057740,   UC004EKW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X102,826,446 - 102,829,047 (-)MPROMDB
RGD ID:6809049
Promoter ID:HG_KWN:67621
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000360458,   NM_001142419,   NM_001142420,   NM_001142422,   NM_001142427,   NM_001142428,   NM_001142431,   NM_001142432,   OTTHUMT00000057725
Position:
Human AssemblyChrPosition (strand)Source
Build 36X102,829,286 - 102,829,786 (-)MPROMDB
RGD ID:13627730
Promoter ID:EPDNEW_H29142
Type:initiation region
Name:MORF4L2_1
Description:mortality factor 4 like 2
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
GRCh38X103,686,699 - 103,686,759EPDNEW

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
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:10679-156013167)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:10679-156022206)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)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 Xq22.2(chrX:103630251-103712297)x1 copy number loss See cases [RCV000051426] ChrX:103630251..103712297 [GRCh38]
ChrX:102885179..102967225 [GRCh37]
ChrX:102771835..102853881 [NCBI36]
ChrX:Xq22.2
uncertain significance
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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0 copy number loss See cases [RCV000051717] ChrX:103350604..104513304 [GRCh38]
ChrX:102605532..103757985 [GRCh37]
ChrX:102492188..103644641 [NCBI36]
ChrX:Xq22.2-22.3
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
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 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 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)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: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: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 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: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 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 Xq22.2(chrX:103350804-104033500)x2 copy number gain See cases [RCV000133951] ChrX:103350804..104033500 [GRCh38]
ChrX:102605732..103288063 [GRCh37]
ChrX:102492388..103174719 [NCBI36]
ChrX:Xq22.2
pathogenic
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 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: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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 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 Xq22.2(chrX:103602874-103832685)x2 copy number gain See cases [RCV000136659] ChrX:103602874..103832685 [GRCh38]
ChrX:102857802..103087615 [GRCh37]
ChrX:102744458..102974271 [NCBI36]
ChrX:Xq22.2
pathogenic|likely benign
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 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 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 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 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: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 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 Xq21.31-28(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 Xq22.2(chrX:103404405-103913265)x2 copy number gain See cases [RCV000138964] ChrX:103404405..103913265 [GRCh38]
ChrX:102659333..103167860 [GRCh37]
ChrX:102545989..103054516 [NCBI36]
ChrX:Xq22.2
pathogenic
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq22.2(chrX:103602874-103881017)x2 copy number gain See cases [RCV000141403] ChrX:103602874..103881017 [GRCh38]
ChrX:102857802..103135921 [GRCh37]
ChrX:102744458..103022577 [NCBI36]
ChrX:Xq22.2
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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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: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 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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 Xq22.2(chrX:102774255-103167770)x3 copy number gain See cases [RCV000240011] ChrX:102774255..103167770 [GRCh37]
ChrX:Xq22.2
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
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: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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
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 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 Xq22.1-22.2(chrX:102443487-102995502)x3 copy number gain not provided [RCV000684364] ChrX:102443487..102995502 [GRCh37]
ChrX:Xq22.1-22.2
uncertain significance
GRCh37/hg19 Xq22.1-22.2(chrX:102463087-103281330)x3 copy number gain not provided [RCV000684365] ChrX:102463087..103281330 [GRCh37]
ChrX:Xq22.1-22.2
uncertain significance
GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2 copy number gain not provided [RCV000684366] ChrX:102718261..103490112 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102767250-103236332)x2 copy number gain not provided [RCV000684367] ChrX:102767250..103236332 [GRCh37]
ChrX:Xq22.2
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NC_000023.10:g.(?_102831398)_(103220942_?)dup duplication Hereditary spastic paraplegia 2 [RCV001032572] ChrX:102831398..103220942 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993771] ChrX:102615641..103309503 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993774] ChrX:102066350..105409822 [GRCh37]
ChrX:Xq22.1-22.3
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993772] ChrX:100866604..103411980 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
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 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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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 Xq22.1-22.3(chrX:102436725-105520605)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993773] ChrX:102436725..105520605 [GRCh37]
ChrX:Xq22.1-22.3
uncertain significance
GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0 copy number loss not provided [RCV000993779] ChrX:102543473..103398234 [GRCh37]
ChrX:Xq22.1-22.2
uncertain significance
NC_000023.10:g.102632399_103221016del deletion Global developmental delay [RCV001172265] ChrX:102632399..103221016 [GRCh37]
ChrX:Xq22.2
pathogenic
GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2 copy number gain not provided [RCV001007329] ChrX:102742391..103109211 [GRCh37]
ChrX:Xq22.2
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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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 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:16849 AgrOrtholog
COSMIC MORF4L2 COSMIC
Ensembl Genes ENSG00000123562 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353643 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391969 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393283 UniProtKB/TrEMBL
  ENSP00000400938 UniProtKB/TrEMBL
  ENSP00000408607 UniProtKB/TrEMBL
  ENSP00000410532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413664 UniProtKB/TrEMBL
  ENSP00000415476 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418819 UniProtKB/TrEMBL
  ENST00000422355 UniProtKB/TrEMBL
  ENST00000433176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434230 UniProtKB/TrEMBL
  ENST00000441076 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442614 UniProtKB/TrEMBL
  ENST00000451301 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.274.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123562 GTEx
HGNC ID HGNC:16849 ENTREZGENE
Human Proteome Map MORF4L2 Human Proteome Map
InterPro MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRG_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRG_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRGX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9643 UniProtKB/Swiss-Prot
NCBI Gene 9643 ENTREZGENE
OMIM 300409 OMIM
PANTHER PTHR10880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10880:SF25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134925837 PharmGKB
PROSITE MRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt MO4L2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JXX1_HUMAN UniProtKB/TrEMBL
  Q5JXX2_HUMAN UniProtKB/TrEMBL
  Q5JXX6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A088AWL8 UniProtKB/TrEMBL
  A0A0E3D6L8 UniProtKB/TrEMBL
  A0A0U1RVL1 UniProtKB/TrEMBL
  B3KP92 UniProtKB/Swiss-Prot
  D3DXA5 UniProtKB/Swiss-Prot
  Q567V0 UniProtKB/Swiss-Prot
  Q5JXX3 UniProtKB/TrEMBL
  Q8J026 UniProtKB/Swiss-Prot