MAP7D2 (MAP7 domain containing 2) - Rat Genome Database

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Gene: MAP7D2 (MAP7 domain containing 2) Homo sapiens
Analyze
Symbol: MAP7D2
Name: MAP7 domain containing 2
RGD ID: 1605254
HGNC Page HGNC
Description: Predicted to be involved in microtubule cytoskeleton organization. Predicted to localize to microtubule cytoskeleton; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 4,4'-sulfonyldiphenol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ14503; MAP7 domain containing 2 brain; MAP7 domain containing 2 protein varaint 1; MAP7 domain containing 2 protein varaint 2; MAP7 domain-containing protein 2; MAP7 domain-containing protein 2 brain specific variant 1; MAP7 domain-containing protein 2 brain specific variant 2; MGC104944; RP11-393H10.2
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 EnsemblX20,006,713 - 20,116,907 (-)EnsemblGRCh38hg38GRCh38
GRCh38X20,006,713 - 20,116,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X20,024,831 - 20,135,025 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,935,150 - 20,044,937 (-)NCBINCBI36hg18NCBI36
CeleraX24,148,899 - 24,259,048 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,770,131 - 17,877,650 (-)NCBIHuRef
CHM1_1X20,055,334 - 20,165,529 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15772651   PMID:16344560   PMID:16959974   PMID:19413330   PMID:21873635   PMID:24613305   PMID:26186194   PMID:26638075   PMID:26972000   PMID:28514442  
PMID:28718761   PMID:29089450   PMID:30021884   PMID:31267705   PMID:32129710  


Genomics

Comparative Map Data
MAP7D2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX20,006,713 - 20,116,907 (-)EnsemblGRCh38hg38GRCh38
GRCh38X20,006,713 - 20,116,907 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X20,024,831 - 20,135,025 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,935,150 - 20,044,937 (-)NCBINCBI36hg18NCBI36
CeleraX24,148,899 - 24,259,048 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,770,131 - 17,877,650 (-)NCBIHuRef
CHM1_1X20,055,334 - 20,165,529 (-)NCBICHM1_1
Map7d2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,197,488 - 158,281,954 (+)NCBIGRCm39mm39
GRCm39 EnsemblX158,197,568 - 158,281,753 (+)Ensembl
GRCm38X159,414,492 - 159,498,958 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX159,414,572 - 159,498,757 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X155,852,510 - 155,936,879 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X154,758,683 - 154,843,052 (+)NCBImm8
CeleraX142,661,499 - 142,746,251 (+)NCBICelera
Cytogenetic MapXF4NCBI
Map7d2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X35,372,453 - 35,488,073 (-)NCBI
Rnor_6.0 EnsemblX38,397,261 - 38,468,360 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X38,400,578 - 38,467,825 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X38,706,546 - 38,777,123 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X56,573,552 - 56,689,427 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX36,028,803 - 36,139,227 (-)NCBICelera
Cytogenetic MapXq14NCBI
Map7d2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955509450,486 - 494,290 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955509447,053 - 568,590 (-)NCBIChiLan1.0ChiLan1.0
MAP7D2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X19,985,121 - 20,096,303 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX19,989,048 - 20,096,192 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X12,624,994 - 12,736,318 (-)NCBIMhudiblu_PPA_v0panPan3
MAP7D2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,916,609 - 15,972,552 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,917,978 - 15,971,000 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X15,875,385 - 15,983,930 (-)NCBI
UMICH_Zoey_3.1X15,925,054 - 16,033,552 (-)NCBI
UNSW_CanFamBas_1.0X15,932,874 - 16,041,328 (-)NCBI
UU_Cfam_GSD_1.0X15,994,670 - 16,103,414 (-)NCBI
Map7d2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X9,007,408 - 9,119,000 (-)NCBI
SpeTri2.0NW_0049366244,038,854 - 4,150,495 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAP7D2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX16,327,965 - 16,423,375 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X16,327,718 - 16,423,546 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X17,593,326 - 17,690,207 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAP7D2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X18,474,073 - 18,583,545 (-)NCBI
ChlSab1.1 EnsemblX18,473,803 - 18,583,523 (-)Ensembl
Map7d2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248294,821,828 - 4,948,202 (-)NCBI

Position Markers
RH44291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,024,863 - 20,025,048UniSTSGRCh37
Build 36X19,934,784 - 19,934,969RGDNCBI36
CeleraX24,148,931 - 24,149,116RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,770,163 - 17,770,348UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH11293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,024,863 - 20,025,048UniSTSGRCh37
Build 36X19,934,784 - 19,934,969RGDNCBI36
CeleraX24,148,931 - 24,149,116RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,770,163 - 17,770,348UniSTS
DXS1525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,019,743 - 20,019,850UniSTSGRCh37
Build 36X19,929,664 - 19,929,771RGDNCBI36
CeleraX24,143,818 - 24,143,925RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,765,046 - 17,765,153UniSTS
sWXD1124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,020,091 - 20,020,167UniSTSGRCh37
Build 36X19,930,012 - 19,930,088RGDNCBI36
CeleraX24,144,166 - 24,144,242RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,765,394 - 17,765,470UniSTS
D17S1162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371743,254,160 - 43,254,456UniSTSGRCh37
GRCh37X20,128,041 - 20,128,328UniSTSGRCh37
Build 36X20,037,962 - 20,038,249RGDNCBI36
CeleraX24,251,942 - 24,252,262RGD
Celera1739,963,794 - 39,964,173UniSTS
Cytogenetic MapXp22.12UniSTS
HuRef1739,016,410 - 39,016,690UniSTS
HuRefX17,870,874 - 17,871,161UniSTS
188G3_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,133,827 - 20,134,075UniSTSGRCh37
Build 36X20,043,748 - 20,043,996RGDNCBI36
CeleraX24,257,761 - 24,258,009RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,876,363 - 17,876,611UniSTS
382L18_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,020,179 - 20,020,377UniSTSGRCh37
Build 36X19,930,100 - 19,930,298RGDNCBI36
CeleraX24,144,254 - 24,144,452RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,765,482 - 17,765,680UniSTS
A004N33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,024,904 - 20,025,031UniSTSGRCh37
Build 36X19,934,825 - 19,934,952RGDNCBI36
CeleraX24,148,972 - 24,149,099RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,770,204 - 17,770,331UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
DXS6730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,033,501 - 20,033,801UniSTSGRCh37
Build 36X19,943,422 - 19,943,722RGDNCBI36
CeleraX24,157,662 - 24,157,962RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,778,801 - 17,779,101UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3725
Count of miRNA genes:987
Interacting mature miRNAs:1159
Transcripts:ENST00000379643, ENST00000379651, ENST00000443379, ENST00000452324, ENST00000466145, ENST00000485173, ENST00000543767
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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
Medium 162 41 16 217 16 25 13 1936 59 445 90 2 2
Low 1395 230 553 68 466 66 1968 507 1231 238 717 426 11 1 271 971 2 1
Below cutoff 870 2626 1095 510 1127 354 2324 1663 562 93 296 1072 159 931 1789 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK027409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW138738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA409284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ319659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ319660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP849473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP849474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP979782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP979783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP979784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP979785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP979786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R45976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379643   ⟹   ENSP00000368964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,006,713 - 20,116,907 (-)Ensembl
RefSeq Acc Id: ENST00000379651   ⟹   ENSP00000368972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,006,713 - 20,116,898 (-)Ensembl
RefSeq Acc Id: ENST00000443379   ⟹   ENSP00000388239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,008,038 - 20,116,904 (-)Ensembl
RefSeq Acc Id: ENST00000452324   ⟹   ENSP00000413301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,008,339 - 20,116,632 (-)Ensembl
RefSeq Acc Id: ENST00000466145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,021,348 - 20,025,943 (-)Ensembl
RefSeq Acc Id: NM_001168465   ⟹   NP_001161937
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,713 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)RGD
CeleraX24,148,899 - 24,259,048 (-)RGD
HuRefX17,770,131 - 17,877,650 (-)RGD
CHM1_1X20,055,334 - 20,165,529 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168466   ⟹   NP_001161938
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,713 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)RGD
CeleraX24,148,899 - 24,259,048 (-)RGD
HuRefX17,770,131 - 17,877,650 (-)RGD
CHM1_1X20,055,334 - 20,165,529 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168467   ⟹   NP_001161939
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,713 - 20,116,640 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)RGD
CeleraX24,148,899 - 24,259,048 (-)RGD
HuRefX17,770,131 - 17,877,650 (-)RGD
CHM1_1X20,055,334 - 20,165,171 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152780   ⟹   NP_689993
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,713 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)RGD
Build 36X19,935,150 - 20,044,937 (-)NCBI Archive
CeleraX24,148,899 - 24,259,048 (-)RGD
HuRefX17,770,131 - 17,877,650 (-)RGD
CHM1_1X20,055,334 - 20,165,529 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274478   ⟹   XP_005274535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,864 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274479   ⟹   XP_005274536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274480   ⟹   XP_005274537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
GRCh37X20,024,831 - 20,135,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724481   ⟹   XP_006724544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724482   ⟹   XP_006724545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545483   ⟹   XP_011543785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545484   ⟹   XP_011543786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,638 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545485   ⟹   XP_011543787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,606 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545486   ⟹   XP_011543788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,018,649 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029393   ⟹   XP_016884882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029394   ⟹   XP_016884883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,638 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029395   ⟹   XP_016884884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,864 - 20,116,638 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029396   ⟹   XP_016884885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,606 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029397   ⟹   XP_016884886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,606 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029398   ⟹   XP_016884887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,018,649 - 20,116,907 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452361   ⟹   XP_024308129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,006,717 - 20,116,627 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452362   ⟹   XP_024308130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,018,649 - 20,116,907 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001161937 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161938 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161939 (Get FASTA)   NCBI Sequence Viewer  
  NP_689993 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274535 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274536 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274537 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724544 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724545 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543785 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543786 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543788 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884882 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884883 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884884 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884885 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884886 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884887 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308129 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308130 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH37165 (Get FASTA)   NCBI Sequence Viewer  
  AAH89400 (Get FASTA)   NCBI Sequence Viewer  
  AAI36380 (Get FASTA)   NCBI Sequence Viewer  
  AFG73613 (Get FASTA)   NCBI Sequence Viewer  
  AFG73614 (Get FASTA)   NCBI Sequence Viewer  
  AKU19354 (Get FASTA)   NCBI Sequence Viewer  
  AKU19355 (Get FASTA)   NCBI Sequence Viewer  
  ALC74287 (Get FASTA)   NCBI Sequence Viewer  
  ALC74288 (Get FASTA)   NCBI Sequence Viewer  
  ALC74289 (Get FASTA)   NCBI Sequence Viewer  
  ALC74290 (Get FASTA)   NCBI Sequence Viewer  
  ALC74291 (Get FASTA)   NCBI Sequence Viewer  
  BAB55093 (Get FASTA)   NCBI Sequence Viewer  
  BAC05407 (Get FASTA)   NCBI Sequence Viewer  
  BAG54432 (Get FASTA)   NCBI Sequence Viewer  
  BAH11884 (Get FASTA)   NCBI Sequence Viewer  
  BAH12313 (Get FASTA)   NCBI Sequence Viewer  
  BAH13881 (Get FASTA)   NCBI Sequence Viewer  
  BAH14488 (Get FASTA)   NCBI Sequence Viewer  
  EAW98971 (Get FASTA)   NCBI Sequence Viewer  
  Q96T17 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_689993   ⟸   NM_152780
- Peptide Label: isoform 2
- UniProtKB: Q96T17 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161937   ⟸   NM_001168465
- Peptide Label: isoform 1
- UniProtKB: Q96T17 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161938   ⟸   NM_001168466
- Peptide Label: isoform 3
- UniProtKB: Q96T17 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161939   ⟸   NM_001168467
- Peptide Label: isoform 4
- UniProtKB: Q96T17 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274537   ⟸   XM_005274480
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_005274536   ⟸   XM_005274479
- Peptide Label: isoform X8
- UniProtKB: A0A0K1JS24 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274535   ⟸   XM_005274478
- Peptide Label: isoform X5
- UniProtKB: A0A0K1JRJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724545   ⟸   XM_006724482
- Peptide Label: isoform X3
- UniProtKB: A0A0M4F6E1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724544   ⟸   XM_006724481
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543785   ⟸   XM_011545483
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543786   ⟸   XM_011545484
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543787   ⟸   XM_011545485
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011543788   ⟸   XM_011545486
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016884882   ⟸   XM_017029393
- Peptide Label: isoform X6
- UniProtKB: A0A0M4FLI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884884   ⟸   XM_017029395
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016884883   ⟸   XM_017029394
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884886   ⟸   XM_017029397
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016884885   ⟸   XM_017029396
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016884887   ⟸   XM_017029398
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_024308129   ⟸   XM_024452361
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024308130   ⟸   XM_024452362
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: ENSP00000413301   ⟸   ENST00000452324
RefSeq Acc Id: ENSP00000388239   ⟸   ENST00000443379
RefSeq Acc Id: ENSP00000368964   ⟸   ENST00000379643
RefSeq Acc Id: ENSP00000368972   ⟸   ENST00000379651

Promoters
RGD ID:6809024
Promoter ID:HG_KWN:66207
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC004CZQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,984,636 - 19,985,136 (-)MPROMDB
RGD ID:6809023
Promoter ID:HG_KWN:66209
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000330274,   NM_001168465,   NM_001168466,   NM_001168467,   OTTHUMT00000056001
Position:
Human AssemblyChrPosition (strand)Source
Build 36X20,045,081 - 20,045,581 (-)MPROMDB
RGD ID:13604892
Promoter ID:EPDNEW_H28630
Type:initiation region
Name:MAP7D2_1
Description:MAP7 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28631  EPDNEW_H28632  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,116,907 - 20,116,967EPDNEW

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: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: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)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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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: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: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 copy number gain See cases [RCV000052384] ChrX:19624798..20573750 [GRCh38]
ChrX:19642916..20591868 [GRCh37]
ChrX:19552837..20501789 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 copy number gain See cases [RCV000052385] ChrX:19878110..20395102 [GRCh38]
ChrX:19896228..20413220 [GRCh37]
ChrX:19806149..20323141 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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: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)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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
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 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 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 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-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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2 copy number gain See cases [RCV000137623] ChrX:20007955..20579523 [GRCh38]
ChrX:20026073..20597641 [GRCh37]
ChrX:19935994..20507562 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.12(chrX:19970925-20240102)x2 copy number gain See cases [RCV000138669] ChrX:19970925..20240102 [GRCh38]
ChrX:19989043..20258220 [GRCh37]
ChrX:19898964..20168141 [NCBI36]
ChrX:Xp22.12
uncertain significance
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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
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
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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 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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 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
GRCh37/hg19 Xp22.12(chrX:19855485-20154502)x3 copy number gain See cases [RCV000446019] ChrX:19855485..20154502 [GRCh37]
ChrX:Xp22.12
uncertain significance
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.12(chrX:19938254-20640014)x2 copy number gain See cases [RCV000511476] ChrX:19938254..20640014 [GRCh37]
ChrX:Xp22.12
conflicting data from submitters
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 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 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:60262-155245765)x1 copy number loss not provided [RCV000753271] 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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
GRCh37/hg19 Xp22.12(chrX:20082776-20137122)x1 copy number loss not provided [RCV001007271] ChrX:20082776..20137122 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
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 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19258311-20193960)x2 copy number gain not provided [RCV000845973] ChrX:19258311..20193960 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001168465.2(MAP7D2):c.2250C>T (p.Asp750=) single nucleotide variant not provided [RCV000958805] ChrX:20010875 [GRCh38]
ChrX:20028993 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.12(chrX:20007752-20498564)x0 copy number gain See cases [RCV001263031] ChrX:20007752..20498564 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Unilateral renal agenesis [RCV001291960] ChrX:19183657..20215858 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25899 AgrOrtholog
COSMIC MAP7D2 COSMIC
Ensembl Genes ENSG00000184368 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000368964 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368972 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388239 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413301 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379643 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379651 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000443379 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452324 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000184368 GTEx
HGNC ID HGNC:25899 ENTREZGENE
Human Proteome Map MAP7D2 Human Proteome Map
InterPro MAP7_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:256714 UniProtKB/Swiss-Prot
NCBI Gene 256714 ENTREZGENE
Pfam MAP7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394971 PharmGKB
UniProt A0A0K1JRJ6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0K1JS24 ENTREZGENE, UniProtKB/TrEMBL
  A0A0M3R6J9_HUMAN UniProtKB/TrEMBL
  A0A0M4F6E1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0M4FLI9 ENTREZGENE, UniProtKB/TrEMBL
  H9XGZ6_HUMAN UniProtKB/TrEMBL
  H9XGZ7_HUMAN UniProtKB/TrEMBL
  MA7D2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7Z2J8 UniProtKB/Swiss-Prot
  B7Z3S7 UniProtKB/Swiss-Prot
  B9EGC7 UniProtKB/Swiss-Prot
  C9JMA4 UniProtKB/Swiss-Prot
  C9JYW0 UniProtKB/Swiss-Prot
  Q5EBN1 UniProtKB/Swiss-Prot
  Q5JPS7 UniProtKB/Swiss-Prot
  Q6PIC7 UniProtKB/Swiss-Prot
  Q8N792 UniProtKB/Swiss-Prot