ZNF185 (zinc finger protein 185 with LIM domain) - Rat Genome Database

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Gene: ZNF185 (zinc finger protein 185 with LIM domain) Homo sapiens
Analyze
Symbol: ZNF185
Name: zinc finger protein 185 with LIM domain
RGD ID: 1352809
HGNC Page HGNC
Description: Predicted to have zinc ion binding activity. Predicted to localize to actin cytoskeleton; cytoplasm; and focal adhesion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: P1-A; SCELL; sciellin like; zinc finger protein 185; zinc finger protein 185 (LIM domain)
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 EnsemblX152,914,442 - 152,973,480 (+)EnsemblGRCh38hg38GRCh38
GRCh38X152,898,067 - 152,973,481 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,082,986 - 152,142,025 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,833,653 - 151,892,678 (+)NCBINCBI36hg18NCBI36
Build 34X151,757,232 - 151,812,583NCBI
CeleraX152,417,145 - 152,476,190 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX140,883,699 - 140,942,530 (+)NCBIHuRef
CHM1_1X151,957,910 - 152,016,969 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9268636   PMID:10854409   PMID:12873976   PMID:14702039   PMID:15731117   PMID:16344560   PMID:16799630   PMID:18029348   PMID:21145461   PMID:25468996   PMID:27655485   PMID:27667456  
PMID:28514442   PMID:28718761   PMID:28986522   PMID:29467282   PMID:29509190   PMID:30021884   PMID:30337687   PMID:30446632   PMID:31540324   PMID:32296183  


Genomics

Comparative Map Data
ZNF185
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX152,914,442 - 152,973,480 (+)EnsemblGRCh38hg38GRCh38
GRCh38X152,898,067 - 152,973,481 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,082,986 - 152,142,025 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,833,653 - 151,892,678 (+)NCBINCBI36hg18NCBI36
Build 34X151,757,232 - 151,812,583NCBI
CeleraX152,417,145 - 152,476,190 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX140,883,699 - 140,942,530 (+)NCBIHuRef
CHM1_1X151,957,910 - 152,016,969 (+)NCBICHM1_1
Zfp185
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,030,860 - 72,075,149 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,030,945 - 72,075,149 (+)Ensembl
GRCm38X72,987,252 - 73,031,543 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX72,987,339 - 73,031,543 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,232,678 - 70,276,882 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,250,502 - 69,284,232 (+)NCBImm8
CeleraX63,910,727 - 63,955,718 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.29NCBI
Zfp185
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X150,831,869 - 150,877,652 (+)NCBI
Rnor_6.0 EnsemblX152,999,016 - 153,031,444 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X152,989,099 - 153,034,289 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01148,718,734 - 148,763,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X158,990,740 - 159,024,426 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1131,796,229 - 131,841,934 (+)NCBICelera
Cytogenetic MapXq37NCBI
Znf185
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554988,185,994 - 8,253,209 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554988,185,997 - 8,248,910 (+)NCBIChiLan1.0ChiLan1.0
ZNF185
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X152,391,505 - 152,467,150 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX152,391,505 - 152,464,221 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X142,472,497 - 142,547,835 (+)NCBIMhudiblu_PPA_v0panPan3
ZNF185
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X120,770,099 - 120,846,855 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX120,782,011 - 120,843,322 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,150,793 - 106,215,089 (+)NCBI
ROS_Cfam_1.0X123,006,936 - 123,071,169 (+)NCBI
UMICH_Zoey_3.1X119,723,086 - 119,787,382 (+)NCBI
UNSW_CanFamBas_1.0X122,213,729 - 122,277,932 (+)NCBI
UU_Cfam_GSD_1.0X122,088,803 - 122,153,011 (+)NCBI
Znf185
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,006,648 - 118,104,290 (+)NCBI
SpeTri2.0NW_004936714167,552 - 218,785 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF185
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX123,944,319 - 123,987,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X123,942,981 - 123,988,102 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X141,414,957 - 141,458,745 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF185
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X127,418,209 - 127,493,217 (+)NCBI
Znf185
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248834,084,018 - 4,140,308 (+)NCBI

Position Markers
G42863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,114,360 - 152,115,319UniSTSGRCh37
Build 36X151,865,016 - 151,865,975RGDNCBI36
CeleraX152,448,520 - 152,449,479RGD
Cytogenetic MapXq28UniSTS
HuRefX140,914,993 - 140,915,959UniSTS
A004F02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,141,772 - 152,141,971UniSTSGRCh37
Build 36X151,892,428 - 151,892,627RGDNCBI36
CeleraX152,475,937 - 152,476,136RGD
Cytogenetic MapXq28UniSTS
HuRefX140,942,277 - 140,942,476UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
ZNF185_8750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,141,373 - 152,142,062UniSTSGRCh37
Build 36X151,892,029 - 151,892,718RGDNCBI36
CeleraX152,475,538 - 152,476,227RGD
HuRefX140,941,878 - 140,942,567UniSTS
SHGC-17233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,141,795 - 152,141,940UniSTSGRCh37
Build 36X151,892,451 - 151,892,596RGDNCBI36
CeleraX152,475,960 - 152,476,105RGD
Cytogenetic MapXq28UniSTS
HuRefX140,942,300 - 140,942,445UniSTS
Stanford-G3 RH MapX4419.0UniSTS
NCBI RH MapX734.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14170
Count of miRNA genes:1196
Interacting mature miRNAs:1479
Transcripts:ENST00000318504, ENST00000318529, ENST00000324823, ENST00000370268, ENST00000370270, ENST00000426821, ENST00000436731, ENST00000447792, ENST00000449285, ENST00000454925, ENST00000535861, ENST00000539731
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 adipose tissue appendage entire extraembryonic component
High
Medium 142 852 885 143 505 22 2178 44 750 222 854 1148 135 123 1366 3
Low 2280 1887 715 356 1417 319 2163 1938 2955 192 593 453 36 1081 1409 1
Below cutoff 9 245 123 123 26 123 14 211 4 3 4 7 13

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK056517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY997296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ923456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA882423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC305824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ508022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ508023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ508024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ508025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ508026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318504   ⟹   ENSP00000312782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,442 - 152,973,480 (+)Ensembl
RefSeq Acc Id: ENST00000318529   ⟹   ENSP00000313919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,917,865 - 152,973,480 (+)Ensembl
RefSeq Acc Id: ENST00000324823   ⟹   ENSP00000325307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,918,121 - 152,973,471 (+)Ensembl
RefSeq Acc Id: ENST00000370268   ⟹   ENSP00000359291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,453 - 152,973,471 (+)Ensembl
RefSeq Acc Id: ENST00000370270   ⟹   ENSP00000359293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,490 - 152,970,541 (+)Ensembl
RefSeq Acc Id: ENST00000426821   ⟹   ENSP00000409121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,920,349 - 152,973,473 (+)Ensembl
RefSeq Acc Id: ENST00000436731   ⟹   ENSP00000391272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,490 - 152,970,541 (+)Ensembl
RefSeq Acc Id: ENST00000447792   ⟹   ENSP00000401766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,920,707 - 152,959,841 (+)Ensembl
RefSeq Acc Id: ENST00000449285   ⟹   ENSP00000395228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,442 - 152,973,480 (+)Ensembl
RefSeq Acc Id: ENST00000454925   ⟹   ENSP00000392984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,941,701 - 152,973,472 (+)Ensembl
RefSeq Acc Id: ENST00000535861   ⟹   ENSP00000440847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,442 - 152,973,480 (+)Ensembl
RefSeq Acc Id: ENST00000539731   ⟹   ENSP00000444367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX152,914,442 - 152,973,480 (+)Ensembl
RefSeq Acc Id: NM_001178106   ⟹   NP_001171577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,442 - 152,973,481 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178107   ⟹   NP_001171578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,442 - 152,973,481 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178108   ⟹   NP_001171579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,432 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178109   ⟹   NP_001171580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,442 - 152,973,481 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178110   ⟹   NP_001171581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,442 - 152,973,481 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178113   ⟹   NP_001171584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,917,843 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,961,333 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178115   ⟹   NP_001171586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,941,671 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,985,144 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001388432   ⟹   NP_001375361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,067 - 152,973,474 (+)NCBI
GRCh38X152,898,199 - 152,973,474 (+)NCBI
RefSeq Acc Id: NM_007150   ⟹   NP_009081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,442 - 152,973,481 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Build 36X151,833,653 - 151,892,678 (+)NCBI Archive
CeleraX152,417,145 - 152,476,190 (+)RGD
HuRefX140,883,699 - 140,942,530 (+)ENTREZGENE
CHM1_1X151,957,910 - 152,016,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274730   ⟹   XP_005274787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274731   ⟹   XP_005274788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274735   ⟹   XP_005274792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274738   ⟹   XP_005274795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274740   ⟹   XP_005274797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274741   ⟹   XP_005274798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274742   ⟹   XP_005274799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274744   ⟹   XP_005274801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274745   ⟹   XP_005274802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274746   ⟹   XP_005274803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
GRCh37X152,066,671 - 152,142,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531194   ⟹   XP_011529496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531195   ⟹   XP_011529497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029821   ⟹   XP_016885310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029822   ⟹   XP_016885311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,172 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029823   ⟹   XP_016885312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029824   ⟹   XP_016885313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029825   ⟹   XP_016885314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029826   ⟹   XP_016885315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029827   ⟹   XP_016885316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029828   ⟹   XP_016885317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029829   ⟹   XP_016885318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029830   ⟹   XP_016885319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029831   ⟹   XP_016885320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029832   ⟹   XP_016885321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029833   ⟹   XP_016885322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029834   ⟹   XP_016885323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029835   ⟹   XP_016885324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,132 - 152,973,474 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171578 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171579 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171580 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375361 (Get FASTA)   NCBI Sequence Viewer  
  NP_009081 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274787 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274788 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274792 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274795 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274797 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274798 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274799 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274801 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274802 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274803 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529496 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529497 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885310 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885311 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885312 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885313 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885314 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885315 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885316 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885318 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885319 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885320 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885321 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885322 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885323 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885324 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAY54245 (Get FASTA)   NCBI Sequence Viewer  
  ABF57657 (Get FASTA)   NCBI Sequence Viewer  
  ABF57658 (Get FASTA)   NCBI Sequence Viewer  
  ABF57659 (Get FASTA)   NCBI Sequence Viewer  
  ABF57660 (Get FASTA)   NCBI Sequence Viewer  
  ABF57661 (Get FASTA)   NCBI Sequence Viewer  
  BAC04511 (Get FASTA)   NCBI Sequence Viewer  
  BAG51736 (Get FASTA)   NCBI Sequence Viewer  
  BAG59511 (Get FASTA)   NCBI Sequence Viewer  
  BAG65173 (Get FASTA)   NCBI Sequence Viewer  
  BAH13507 (Get FASTA)   NCBI Sequence Viewer  
  CAA70733 (Get FASTA)   NCBI Sequence Viewer  
  CAD97773 (Get FASTA)   NCBI Sequence Viewer  
  CAE45970 (Get FASTA)   NCBI Sequence Viewer  
  EAW72893 (Get FASTA)   NCBI Sequence Viewer  
  EAW72894 (Get FASTA)   NCBI Sequence Viewer  
  EAW72895 (Get FASTA)   NCBI Sequence Viewer  
  EAW72896 (Get FASTA)   NCBI Sequence Viewer  
  O15231 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_009081   ⟸   NM_007150
- Peptide Label: isoform 4
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171577   ⟸   NM_001178106
- Peptide Label: isoform 1
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171578   ⟸   NM_001178107
- Peptide Label: isoform 2
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171579   ⟸   NM_001178108
- Peptide Label: isoform 3
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171580   ⟸   NM_001178109
- Peptide Label: isoform 5
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171581   ⟸   NM_001178110
- Peptide Label: isoform 6
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171584   ⟸   NM_001178113
- Peptide Label: isoform 7
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171586   ⟸   NM_001178115
- Peptide Label: isoform 9
- UniProtKB: O15231 (UniProtKB/Swiss-Prot),   B3KPM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274788   ⟸   XM_005274731
- Peptide Label: isoform X9
- UniProtKB: O15231 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274795   ⟸   XM_005274738
- Peptide Label: isoform X16
- UniProtKB: O15231 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274792   ⟸   XM_005274735
- Peptide Label: isoform X14
- UniProtKB: O15231 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274798   ⟸   XM_005274741
- Peptide Label: isoform X21
- UniProtKB: O15231 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274802   ⟸   XM_005274745
- Peptide Label: isoform X26
- UniProtKB: O15231 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274803   ⟸   XM_005274746
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_005274787   ⟸   XM_005274730
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_005274797   ⟸   XM_005274740
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_005274801   ⟸   XM_005274744
- Peptide Label: isoform X25
- Sequence:
RefSeq Acc Id: XP_005274799   ⟸   XM_005274742
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_011529497   ⟸   XM_011531195
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: XP_011529496   ⟸   XM_011531194
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: XP_016885310   ⟸   XM_017029821
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885317   ⟸   XM_017029828
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885321   ⟸   XM_017029832
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885314   ⟸   XM_017029825
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885319   ⟸   XM_017029830
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016885315   ⟸   XM_017029826
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885320   ⟸   XM_017029831
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016885318   ⟸   XM_017029829
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016885323   ⟸   XM_017029834
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016885312   ⟸   XM_017029823
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885316   ⟸   XM_017029827
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885324   ⟸   XM_017029835
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_016885313   ⟸   XM_017029824
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885322   ⟸   XM_017029833
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016885311   ⟸   XM_017029822
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359291   ⟸   ENST00000370268
RefSeq Acc Id: ENSP00000359293   ⟸   ENST00000370270
RefSeq Acc Id: ENSP00000409121   ⟸   ENST00000426821
RefSeq Acc Id: ENSP00000392984   ⟸   ENST00000454925
RefSeq Acc Id: ENSP00000325307   ⟸   ENST00000324823
RefSeq Acc Id: ENSP00000440847   ⟸   ENST00000535861
RefSeq Acc Id: ENSP00000444367   ⟸   ENST00000539731
RefSeq Acc Id: ENSP00000401766   ⟸   ENST00000447792
RefSeq Acc Id: ENSP00000395228   ⟸   ENST00000449285
RefSeq Acc Id: ENSP00000312782   ⟸   ENST00000318504
RefSeq Acc Id: ENSP00000313919   ⟸   ENST00000318529
RefSeq Acc Id: ENSP00000391272   ⟸   ENST00000436731
RefSeq Acc Id: NP_001375361   ⟸   NM_001388432
- Peptide Label: isoform 3
Protein Domains
LIM zinc-binding

Promoters
RGD ID:6809425
Promoter ID:HG_KWN:68488
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000370270,   NM_001178113,   NM_001178114
Position:
Human AssemblyChrPosition (strand)Source
Build 36X151,836,889 - 151,837,389 (+)MPROMDB
RGD ID:6809424
Promoter ID:HG_KWN:68493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001178115
Position:
Human AssemblyChrPosition (strand)Source
Build 36X151,860,561 - 151,861,061 (+)MPROMDB
RGD ID:13628478
Promoter ID:EPDNEW_H29473
Type:initiation region
Name:ZNF185_1
Description:zinc finger protein 185 with LIM domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29475  EPDNEW_H29474  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,898,067 - 152,898,127EPDNEW
RGD ID:13628476
Promoter ID:EPDNEW_H29474
Type:initiation region
Name:ZNF185_2
Description:zinc finger protein 185 with LIM domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29475  EPDNEW_H29473  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,914,406 - 152,914,466EPDNEW
RGD ID:13628470
Promoter ID:EPDNEW_H29475
Type:initiation region
Name:ZNF185_3
Description:zinc finger protein 185 with LIM domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29474  EPDNEW_H29473  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,918,116 - 152,918,176EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:152789896-153047281)x2 copy number gain See cases [RCV000133600] ChrX:152789896..153047281 [GRCh38]
ChrX:151897029..152215637 [GRCh37]
ChrX:151647685..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xq28(chrX:152789896-153047281)x3 copy number gain See cases [RCV000054318] ChrX:152789896..153047281 [GRCh38]
ChrX:151897029..152215637 [GRCh37]
ChrX:151647685..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
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 Xq28(chrX:152813612-153047281)x3 copy number gain See cases [RCV000134157] ChrX:152813612..153047281 [GRCh38]
ChrX:151982144..152215637 [GRCh37]
ChrX:151732800..151966293 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:152970453-153311123)x0 copy number loss See cases [RCV000142187] ChrX:152970453..153311123 [GRCh38]
ChrX:152138997..152576581 [GRCh37]
ChrX:151889653..152229775 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:152795555-152912145)x3 copy number gain See cases [RCV000054319] ChrX:152795555..152912145 [GRCh38]
ChrX:151714755..151831345 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151903225-152226301)x3 copy number gain See cases [RCV000240253] ChrX:151903225..152226301 [GRCh37]
ChrX:Xq28
uncertain significance
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:71267-155246643)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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [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: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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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: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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq28(chrX:151869764-152329158)x3 copy number gain See cases [RCV000449086] ChrX:151869764..152329158 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq28(chrX:151996219-152227964)x2 copy number gain See cases [RCV000446057] ChrX:151996219..152227964 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
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 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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
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 Xq28(chrX:152033631-152329158)x2 copy number gain See cases [RCV000511168] ChrX:152033631..152329158 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
Single allele duplication not provided [RCV000677984] ChrX:151903225..152087646 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152090809-152513783)x3 copy number gain not provided [RCV000753916] ChrX:152090809..152513783 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
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
NM_007150.3(ZNF185):c.2064C>G (p.Leu688=) single nucleotide variant not provided [RCV000899253] ChrX:152970535 [GRCh38]
ChrX:152139079 [GRCh37]
ChrX:Xq28
likely benign
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_007150.3(ZNF185):c.827+10G>A single nucleotide variant not provided [RCV000887850] ChrX:152922819 [GRCh38]
ChrX:152091363 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:151908474-152108084)x3 copy number gain not provided [RCV000847602] ChrX:151908474..152108084 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151945709-152228928)x3 copy number gain not provided [RCV000848157] ChrX:151945709..152228928 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely 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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_007150.3(ZNF185):c.489G>A (p.Glu163=) single nucleotide variant not provided [RCV000964274] ChrX:152919040 [GRCh38]
ChrX:152087584 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152081026-152329158)x3 copy number gain not provided [RCV001260052] ChrX:152081026..152329158 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152113018-152187023)x1 copy number loss not provided [RCV001260054] ChrX:152113018..152187023 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151970736-152091035)x3 copy number gain not provided [RCV001260064] ChrX:151970736..152091035 [GRCh37]
ChrX:Xq28
uncertain significance
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:12976 AgrOrtholog
COSMIC ZNF185 COSMIC
Ensembl Genes ENSG00000147394 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312782 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000313919 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000325307 UniProtKB/Swiss-Prot
  ENSP00000359291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359293 UniProtKB/Swiss-Prot
  ENSP00000391272 UniProtKB/TrEMBL
  ENSP00000392984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401766 UniProtKB/TrEMBL
  ENSP00000409121 UniProtKB/TrEMBL
  ENSP00000440847 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444367 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000318529 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000324823 UniProtKB/Swiss-Prot
  ENST00000370268 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370270 UniProtKB/Swiss-Prot
  ENST00000426821 UniProtKB/TrEMBL
  ENST00000436731 UniProtKB/TrEMBL
  ENST00000447792 UniProtKB/TrEMBL
  ENST00000449285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000454925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000539731 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147394 GTEx
HGNC ID HGNC:12976 ENTREZGENE
Human Proteome Map ZNF185 Human Proteome Map
InterPro ZNF185 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7739 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7739 ENTREZGENE
OMIM 300381 OMIM
PANTHER PTHR15468:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37558 PharmGKB
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPM4 ENTREZGENE, UniProtKB/TrEMBL
  H0Y704_HUMAN UniProtKB/TrEMBL
  H7BZT5_HUMAN UniProtKB/TrEMBL
  H7C1R1_HUMAN UniProtKB/TrEMBL
  O15231 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4FTV3 UniProtKB/Swiss-Prot
  A6NME5 UniProtKB/Swiss-Prot
  B4DLE9 UniProtKB/Swiss-Prot
  B7Z771 UniProtKB/Swiss-Prot
  B8K2L9 UniProtKB/Swiss-Prot
  B8K2M0 UniProtKB/Swiss-Prot
  B8K2M1 UniProtKB/Swiss-Prot
  B8K2M2 UniProtKB/Swiss-Prot
  E9PFR6 UniProtKB/Swiss-Prot
  F5GXF7 UniProtKB/Swiss-Prot
  F5GZL4 UniProtKB/Swiss-Prot
  F8W8V7 UniProtKB/Swiss-Prot
  H0Y4M8 UniProtKB/Swiss-Prot
  O00345 UniProtKB/Swiss-Prot
  Q8N1R8 UniProtKB/Swiss-Prot
  Q9NSD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 ZNF185  zinc finger protein 185 with LIM domain    zinc finger protein 185 (LIM domain)  Symbol and/or name change 5135510 APPROVED