ZC3H12B (zinc finger CCCH-type containing 12B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ZC3H12B (zinc finger CCCH-type containing 12B) Homo sapiens
Analyze
Symbol: ZC3H12B
Name: zinc finger CCCH-type containing 12B
RGD ID: 1601698
HGNC Page HGNC
Description: Predicted to have endoribonuclease activity and mRNA binding activity. Predicted to be involved in RNA phosphodiester bond hydrolysis, endonucleolytic. Predicted to localize to cytoplasmic ribonucleoprotein granule and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CXorf32; MCP-induced protein 2; MCPIP2; probable ribonuclease ZC3H12B; zinc finger CCCH domain-containing protein 12B
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 EnsemblX65,366,638 - 65,507,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38X65,034,815 - 65,507,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,708,615 - 64,727,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,625,431 - 64,644,492 (+)NCBINCBI36hg18NCBI36
CeleraX65,055,755 - 65,074,911 (+)NCBI
Cytogenetic MapXq11.2-q12NCBI
HuRefX58,536,997 - 58,555,927 (+)NCBIHuRef
CHM1_1X64,601,682 - 64,620,833 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:8889548   PMID:12477932   PMID:14702039   PMID:15772651   PMID:16344560   PMID:18029348   PMID:18178554   PMID:21873635   PMID:30745168   PMID:30988100   PMID:32961112  


Genomics

Comparative Map Data
ZC3H12B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX65,366,638 - 65,507,887 (+)EnsemblGRCh38hg38GRCh38
GRCh38X65,034,815 - 65,507,887 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X64,708,615 - 64,727,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X64,625,431 - 64,644,492 (+)NCBINCBI36hg18NCBI36
CeleraX65,055,755 - 65,074,911 (+)NCBI
Cytogenetic MapXq11.2-q12NCBI
HuRefX58,536,997 - 58,555,927 (+)NCBIHuRef
CHM1_1X64,601,682 - 64,620,833 (+)NCBICHM1_1
Zc3h12b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X94,755,206 - 94,976,262 (+)NCBIGRCm39mm39
GRCm39 EnsemblX94,755,284 - 94,976,243 (+)Ensembl
GRCm38X95,711,583 - 95,932,656 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX95,711,678 - 95,932,637 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X92,907,017 - 93,123,309 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X91,914,397 - 92,127,477 (+)NCBImm8
CeleraX82,732,867 - 82,942,791 (+)NCBICelera
Cytogenetic MapXC3NCBI
Zc3h12b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X60,615,616 - 60,849,278 (+)NCBI
Rnor_6.0 EnsemblX65,040,104 - 65,074,712 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X65,040,032 - 65,074,857 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X65,882,161 - 65,916,894 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X83,528,345 - 83,561,515 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX61,034,060 - 61,259,514 (+)NCBICelera
Cytogenetic MapXq22NCBI
Zc3h12b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,126,158 - 5,162,108 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554754,676,190 - 5,162,108 (+)NCBIChiLan1.0ChiLan1.0
ZC3H12B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X64,680,085 - 64,699,055 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX64,563,916 - 64,699,055 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X54,162,659 - 54,623,859 (+)NCBIMhudiblu_PPA_v0panPan3
ZC3H12B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,295,906 - 50,507,290 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,296,114 - 50,503,019 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX40,751,760 - 41,346,169 (+)NCBI
ROS_Cfam_1.0X51,271,151 - 51,466,110 (+)NCBI
UMICH_Zoey_3.1X48,844,047 - 49,437,341 (+)NCBI
UNSW_CanFamBas_1.0X50,184,370 - 50,783,525 (+)NCBI
UU_Cfam_GSD_1.0X50,090,364 - 50,693,773 (+)NCBI
Zc3h12b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,818,609 - 52,114,221 (-)NCBI
SpeTri2.0NW_0049366352,580,693 - 2,690,297 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZC3H12B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX51,502,731 - 51,749,630 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X51,231,526 - 51,749,627 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,099,740 - 58,372,807 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZC3H12B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X55,152,447 - 55,498,218 (+)NCBI
Vero_WHO_p1.0NW_0236660832,365,607 - 2,794,233 (+)NCBI
Zc3h12b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248981,750,550 - 1,802,233 (-)NCBI

Position Markers
RH12487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,727,585 - 64,727,713UniSTSGRCh37
Build 36X64,644,310 - 64,644,438RGDNCBI36
CeleraX65,074,729 - 65,074,857RGD
Cytogenetic MapXq12UniSTS
HuRefX58,555,745 - 58,555,873UniSTS
GeneMap99-GB4 RH MapX211.81UniSTS
DXS910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,707,562 - 64,707,664UniSTSGRCh37
Build 36X64,624,287 - 64,624,389RGDNCBI36
CeleraX65,054,702 - 65,054,804RGD
Cytogenetic MapXq12UniSTS
HuRefX58,535,944 - 58,536,046UniSTS
A005W20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,727,649 - 64,727,762UniSTSGRCh37
Build 36X64,644,374 - 64,644,487RGDNCBI36
CeleraX65,074,793 - 65,074,906RGD
Cytogenetic MapXq12UniSTS
HuRefX58,555,809 - 58,555,922UniSTS
GeneMap99-GB4 RH MapX214.49UniSTS
NCBI RH MapX336.6UniSTS
SHGC-32201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,727,606 - 64,727,733UniSTSGRCh37
Build 36X64,644,331 - 64,644,458RGDNCBI36
CeleraX65,074,750 - 65,074,877RGD
Cytogenetic MapXq12UniSTS
HuRefX58,555,766 - 58,555,893UniSTS
Stanford-G3 RH MapX2557.0UniSTS
GeneMap99-GB4 RH MapX211.81UniSTS
Whitehead-RH MapX137.0UniSTS
NCBI RH MapX368.2UniSTS
GeneMap99-G3 RH MapX1791.0UniSTS
G32300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X64,727,649 - 64,727,762UniSTSGRCh37
CeleraX65,074,793 - 65,074,906UniSTS
Cytogenetic MapXq12UniSTS
HuRefX58,555,809 - 58,555,922UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7336
Count of miRNA genes:1315
Interacting mature miRNAs:1694
Transcripts:ENST00000338957, ENST00000423889
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 1 33 1 1 6 1 1
Low 2369 1671 1414 365 981 219 2994 966 3606 286 1162 1433 149 1067 1771 1
Below cutoff 56 1303 303 252 919 240 1352 1223 93 119 281 163 21 137 1017 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001010888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK091685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL441964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL712229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU688472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX415643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA401831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338957   ⟹   ENSP00000340839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,488,735 - 65,507,887 (+)Ensembl
RefSeq Acc Id: ENST00000617377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX65,366,638 - 65,499,310 (+)Ensembl
RefSeq Acc Id: NM_001010888   ⟹   NP_001010888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,488,735 - 65,507,887 (+)NCBI
GRCh37X64,708,058 - 64,727,767 (+)NCBI
Build 36X64,625,431 - 64,644,492 (+)NCBI Archive
CeleraX65,055,755 - 65,074,911 (+)RGD
HuRefX58,536,997 - 58,555,927 (+)RGD
CHM1_1X64,601,682 - 64,620,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530939   ⟹   XP_011529241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,477,020 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029478   ⟹   XP_016884967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029479   ⟹   XP_016884968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,035,277 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029480   ⟹   XP_016884969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029481   ⟹   XP_016884970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029482   ⟹   XP_016884971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029483   ⟹   XP_016884972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029484   ⟹   XP_016884973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,034,815 - 65,507,887 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755686
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,311 - 65,107,289 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755687
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,308 - 65,113,993 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755688
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,311 - 65,113,993 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755689
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,311 - 65,091,892 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755690
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,051,311 - 65,091,113 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001010888   ⟸   NM_001010888
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529241   ⟸   XM_011530939
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884973   ⟸   XM_017029484
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884968   ⟸   XM_017029479
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884967   ⟸   XM_017029478
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884969   ⟸   XM_017029480
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884970   ⟸   XM_017029481
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884971   ⟸   XM_017029482
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884972   ⟸   XM_017029483
- Peptide Label: isoform X1
- UniProtKB: Q5HYM0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000340839   ⟸   ENST00000338957

Promoters
RGD ID:13627315
Promoter ID:EPDNEW_H28932
Type:initiation region
Name:ZC3H12B_1
Description:zinc finger CCCH-type containing 12B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X65,034,826 - 65,034,886EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 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 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 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: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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
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: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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 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 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-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 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 Xq11.2-12(chrX:64829717-65696211)x3 copy number gain See cases [RCV000137507] ChrX:64829717..65696211 [GRCh38]
ChrX:64049597..64916072 [GRCh37]
ChrX:63966322..64832797 [NCBI36]
ChrX:Xq11.2-12
likely pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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 Xp22.33-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 Xp22.2-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-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 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 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 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-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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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-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
NC_000023.11:g.65362419A>G single nucleotide variant Lung cancer [RCV000111436] ChrX:65362419 [GRCh38]
ChrX:64582299 [GRCh37]
ChrX:Xq11.2
uncertain significance
GRCh38/hg38 Xq11.2(chrX:65043676-65305544)x2 copy number gain See cases [RCV000133765] ChrX:65043676..65305544 [GRCh38]
ChrX:64263556..64525424 [GRCh37]
ChrX:64180281..64442149 [NCBI36]
ChrX:Xq11.2
uncertain significance
GRCh38/hg38 Xq11.2(chrX:64958462-65369941)x2 copy number gain See cases [RCV000139300] ChrX:64958462..65369941 [GRCh38]
ChrX:64178342..64589821 [GRCh37]
ChrX:64095067..64506546 [NCBI36]
ChrX:Xq11.2
likely benign
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.2-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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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: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-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.2-12(chrX:64236940-65161851)x3 copy number gain See cases [RCV000445659] ChrX:64236940..65161851 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 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 Xp22.31-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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 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
NM_001010888.3(ZC3H12B):c.1392G>A (p.Ser464=) single nucleotide variant not provided [RCV000891692] ChrX:65502090 [GRCh38]
ChrX:64721970 [GRCh37]
ChrX:Xq12
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001010888.3(ZC3H12B):c.326A>G (p.Gln109Arg) single nucleotide variant not provided [RCV000893070] ChrX:65489127 [GRCh38]
ChrX:64709007 [GRCh37]
ChrX:Xq12
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely 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 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 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 Xq11.2-12(chrX:64325329-64772747)x2 copy number gain not provided [RCV001007309] ChrX:64325329..64772747 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
GRCh37/hg19 Xq11.2-12(chrX:63997723-64725677)x2 copy number gain not provided [RCV001007308] ChrX:63997723..64725677 [GRCh37]
ChrX:Xq11.2-12
uncertain significance
Single allele deletion Wieacker-Wolff syndrome, female-restricted [RCV001255971] ChrX:64951692..65166933 [GRCh38]
ChrX:Xq11.2
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17407 AgrOrtholog
COSMIC ZC3H12B COSMIC
Ensembl Genes ENSG00000102053 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000340839 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000338957 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000102053 GTEx
HGNC ID HGNC:17407 ENTREZGENE
Human Proteome Map ZC3H12B Human Proteome Map
InterPro Rege-1_UBA-like UniProtKB/Swiss-Prot
  Regnase_1/ZC3H12_C UniProtKB/Swiss-Prot
  RNase_Zc3h12_NYN UniProtKB/Swiss-Prot
  Znf_CCCH UniProtKB/Swiss-Prot
KEGG Report hsa:340554 UniProtKB/Swiss-Prot
NCBI Gene 340554 ENTREZGENE
OMIM 300889 OMIM
Pfam Regnase_1_C UniProtKB/Swiss-Prot
  RNase_Zc3h12a UniProtKB/Swiss-Prot
  UBA_6 UniProtKB/Swiss-Prot
PharmGKB PA134942463 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot
UniProt Q5HYM0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RTQ3 UniProtKB/Swiss-Prot
  E9PAJ6 UniProtKB/Swiss-Prot
  Q5H9C0 UniProtKB/Swiss-Prot