TAB3 (TGF-beta activated kinase 1 (MAP3K7) binding protein 3) - Rat Genome Database

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Gene: TAB3 (TGF-beta activated kinase 1 (MAP3K7) binding protein 3) Homo sapiens
Analyze
Symbol: TAB3
Name: TGF-beta activated kinase 1 (MAP3K7) binding protein 3
RGD ID: 1603527
HGNC Page HGNC
Description: Predicted to have metal ion binding activity and ubiquitin binding activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MAP3K7IP3; MGC45404; mitogen-activated protein kinase kinase kinase 7 interacting protein 3; NAP1; NF-kappa-B-activating protein 1; NFkB activating protein 1; TAB-3; TAK1-binding protein 3; TGF-beta activated kinase 1 and MAP3K7 binding protein 3; TGF-beta activated kinase 1/MAP3K7 binding protein 3; TGF-beta-activated kinase 1 and MAP3K7-binding protein 3; TGF-beta-activated kinase 1-binding protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TAB3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX30,827,442 - 30,975,084 (-)EnsemblGRCh38hg38GRCh38
GRCh38X30,827,442 - 30,889,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,845,559 - 30,907,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,755,480 - 30,817,432 (-)NCBINCBI36hg18NCBI36
CeleraX34,973,775 - 35,018,119 (-)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,586,659 - 28,648,837 (-)NCBIHuRef
CHM1_1X30,877,115 - 30,938,957 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:10066798   PMID:10882101   PMID:12477932   PMID:12609980   PMID:14633987   PMID:14670075   PMID:14702039   PMID:14743216   PMID:14766965   PMID:15276183   PMID:15327770   PMID:15489334  
PMID:16189514   PMID:16344560   PMID:17158449   PMID:17384642   PMID:17449468   PMID:18021073   PMID:18345001   PMID:18570454   PMID:19232515   PMID:19521662   PMID:19820708   PMID:19927120  
PMID:21512569   PMID:21512573   PMID:21572451   PMID:21575904   PMID:21866272   PMID:21873635   PMID:21903422   PMID:21976705   PMID:22081109   PMID:22158122   PMID:22660635   PMID:23286385  
PMID:23487264   PMID:23986494   PMID:24434549   PMID:24488098   PMID:24565101   PMID:24912525   PMID:25416956   PMID:25642820   PMID:26299341   PMID:26389696   PMID:26476534   PMID:26555189  
PMID:26676784   PMID:27009840   PMID:27307491   PMID:27452334   PMID:27497262   PMID:27545878   PMID:27591049   PMID:27651027   PMID:27880917   PMID:28190767   PMID:28295271   PMID:28507161  
PMID:28514442   PMID:28718761   PMID:29331416   PMID:30226617   PMID:30348973   PMID:30472188   PMID:30760523   PMID:30893695   PMID:31127032   PMID:31903660   PMID:32229191   PMID:32296183  
PMID:32373954   PMID:32819610  


Genomics

Comparative Map Data
TAB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX30,827,442 - 30,975,084 (-)EnsemblGRCh38hg38GRCh38
GRCh38X30,827,442 - 30,889,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,845,559 - 30,907,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,755,480 - 30,817,432 (-)NCBINCBI36hg18NCBI36
CeleraX34,973,775 - 35,018,119 (-)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,586,659 - 28,648,837 (-)NCBIHuRef
CHM1_1X30,877,115 - 30,938,957 (-)NCBICHM1_1
Tab3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X84,617,466 - 84,678,075 (+)NCBIGRCm39mm39
GRCm39 EnsemblX84,617,628 - 84,678,075 (+)Ensembl
GRCm38X85,573,854 - 85,634,469 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX85,574,022 - 85,634,469 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X82,819,361 - 82,879,808 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X81,826,741 - 81,887,033 (+)NCBImm8
CeleraX76,769,488 - 76,829,957 (+)NCBICelera
Cytogenetic MapXC1NCBI
Tab3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X49,972,414 - 50,044,658 (+)NCBI
Rnor_6.0 EnsemblX54,062,935 - 54,086,339 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X54,035,958 - 54,090,282 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X54,239,856 - 54,291,761 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X72,264,496 - 72,304,801 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX50,603,539 - 50,675,711 (+)NCBICelera
Cytogenetic MapXq21NCBI
Tab3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555353,585,243 - 3,612,790 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555353,547,556 - 3,612,705 (+)NCBIChiLan1.0ChiLan1.0
TAB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X30,980,841 - 31,042,142 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX30,980,841 - 31,012,994 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X23,428,343 - 23,489,688 (-)NCBIMhudiblu_PPA_v0panPan3
TAB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X25,950,071 - 26,039,180 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX25,954,145 - 26,008,169 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX30,925,754 - 31,014,854 (-)NCBI
ROS_Cfam_1.0X25,981,434 - 26,070,564 (-)NCBI
UMICH_Zoey_3.1X26,026,007 - 26,115,373 (-)NCBI
UNSW_CanFamBas_1.0X26,019,013 - 26,108,164 (-)NCBI
UU_Cfam_GSD_1.0X26,116,786 - 26,206,101 (-)NCBI
Tab3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X18,767,914 - 18,825,442 (-)NCBI
SpeTri2.0NW_0049365536,860,435 - 6,917,796 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX26,632,549 - 26,729,051 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X26,632,547 - 26,729,039 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X28,950,771 - 29,007,946 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TAB3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X29,256,176 - 29,318,129 (-)NCBI
ChlSab1.1 EnsemblX29,256,104 - 29,288,960 (-)Ensembl
Vero_WHO_p1.0NW_02366605631,321,989 - 31,383,983 (-)NCBI
Tab3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476225,107,234 - 25,177,268 (+)NCBI

Position Markers
RH48054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,848,514 - 30,848,649UniSTSGRCh37
Build 36X30,758,435 - 30,758,570RGDNCBI36
CeleraX34,976,730 - 34,976,865RGD
Cytogenetic MapXp21.2UniSTS
HuRefX28,589,614 - 28,589,749UniSTS
GeneMap99-GB4 RH MapX107.78UniSTS
SHGC-153633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,908,696 - 30,909,038UniSTSGRCh37
Build 36X30,818,617 - 30,818,959RGDNCBI36
CeleraX35,036,196 - 35,036,538RGD
Cytogenetic MapXp21.2UniSTS
HuRefX28,650,021 - 28,650,363UniSTS
AB055321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,845,586 - 30,845,695UniSTSGRCh37
Build 36X30,755,507 - 30,755,616RGDNCBI36
CeleraX34,973,802 - 34,973,911RGD
HuRefX28,586,686 - 28,586,795UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR23Bhsa-miR-23b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22660635

Predicted Target Of
Summary Value
Count of predictions:12696
Count of miRNA genes:1528
Interacting mature miRNAs:2100
Transcripts:ENST00000288422, ENST00000378928, ENST00000378930, ENST00000378932, ENST00000378933, ENST00000467136
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 126 19 255 127 546 116 319 39 142 126 876 328 22 5 113 4
Low 2306 2926 1468 495 1386 348 4036 2131 3559 291 572 1280 149 1199 2675
Below cutoff 39 16 23 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY331591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY331592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY371491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU849692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA494641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288422   ⟹   ENSP00000288422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,855,523 - 30,889,394 (-)Ensembl
RefSeq Acc Id: ENST00000378928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,842,988 - 30,852,887 (-)Ensembl
RefSeq Acc Id: ENST00000378930   ⟹   ENSP00000368212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,827,443 - 30,859,720 (-)Ensembl
RefSeq Acc Id: ENST00000378932   ⟹   ENSP00000368214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,830,331 - 30,975,084 (-)Ensembl
RefSeq Acc Id: ENST00000378933   ⟹   ENSP00000368215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,827,442 - 30,975,084 (-)Ensembl
RefSeq Acc Id: ENST00000467136   ⟹   ENSP00000433193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,834,621 - 30,871,802 (-)Ensembl
RefSeq Acc Id: NM_152787   ⟹   NP_690000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,827,442 - 30,889,254 (-)NCBI
GRCh37X30,845,559 - 30,907,511 (-)RGD
Build 36X30,755,480 - 30,817,432 (-)NCBI Archive
CeleraX34,973,775 - 35,018,119 (-)RGD
HuRefX28,586,659 - 28,648,837 (-)RGD
CHM1_1X30,877,115 - 30,938,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274483   ⟹   XP_005274540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,827,602 - 30,889,391 (-)NCBI
GRCh37X30,845,559 - 30,907,511 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274484   ⟹   XP_005274541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,827,442 - 30,889,391 (-)NCBI
GRCh37X30,845,559 - 30,907,511 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545488   ⟹   XP_011543790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,842,965 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029399   ⟹   XP_016884888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,805 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029400   ⟹   XP_016884889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,805 - 30,883,720 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029401   ⟹   XP_016884890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,159 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029402   ⟹   XP_016884891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,845,933 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755682
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,159 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XR_430492
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,631 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950433
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,834,065 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950434
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,831,488 - 30,889,391 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950435
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,835,387 - 30,889,391 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_690000   ⟸   NM_152787
- UniProtKB: Q8N5C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274540   ⟸   XM_005274483
- Peptide Label: isoform X2
- UniProtKB: Q8N5C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274541   ⟸   XM_005274484
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543790   ⟸   XM_011545488
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884890   ⟸   XM_017029401
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884888   ⟸   XM_017029399
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884889   ⟸   XM_017029400
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884891   ⟸   XM_017029402
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000433193   ⟸   ENST00000467136
RefSeq Acc Id: ENSP00000368212   ⟸   ENST00000378930
RefSeq Acc Id: ENSP00000368214   ⟸   ENST00000378932
RefSeq Acc Id: ENSP00000368215   ⟸   ENST00000378933
RefSeq Acc Id: ENSP00000288422   ⟸   ENST00000288422
Protein Domains
CUE

Promoters
RGD ID:6809038
Promoter ID:HG_KWN:66348
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_152787
Position:
Human AssemblyChrPosition (strand)Source
Build 36X30,817,156 - 30,817,832 (-)MPROMDB
RGD ID:13604990
Promoter ID:EPDNEW_H28679
Type:initiation region
Name:TAB3_1
Description:TGF-beta activated kinase 1 and MAP3K7 binding protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,889,254 - 30,889,314EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_152787.4(TAB3):c.1889-2573G>C single nucleotide variant Lung cancer [RCV000102529] ChrX:30836725 [GRCh38]
ChrX:30854842 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.2(chrX:30783431-30834542)x2 copy number gain See cases [RCV000053697] ChrX:30783431..30834542 [GRCh38]
ChrX:30801548..30852659 [GRCh37]
ChrX:30711469..30762580 [NCBI36]
ChrX:Xp21.2
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.2(chrX:30654318-30840990)x3 copy number gain See cases [RCV000134072] ChrX:30654318..30840990 [GRCh38]
ChrX:30672435..30859107 [GRCh37]
ChrX:30582356..30769028 [NCBI36]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0 copy number loss See cases [RCV000136548] ChrX:30093911..34060667 [GRCh38]
ChrX:30112028..34078784 [GRCh37]
ChrX:30021949..33988705 [NCBI36]
ChrX:Xp21.2-21.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp21.2(chrX:30869943-31263793)x2 copy number gain See cases [RCV000512160] ChrX:30869943..31263793 [GRCh37]
ChrX:Xp21.2
uncertain significance
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del deletion Congenital adrenal hypoplasia, X-linked [RCV000512729] ChrX:28753427..31819902 [GRCh38]
ChrX:28771544..31838019 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del deletion Congenital adrenal hypoplasia, X-linked [RCV000513432] ChrX:30064519..31178619 [GRCh38]
ChrX:30082636..31196736 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp21.2(chrX:30452164-30849176)x3 copy number gain not provided [RCV000753458] ChrX:30452164..30849176 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_152787.5(TAB3):c.716C>T (p.Ser239Leu) single nucleotide variant not provided [RCV000973167] ChrX:30854949 [GRCh38]
ChrX:30873066 [GRCh37]
ChrX:Xp21.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
Single allele deletion Chromosome Xp21 deletion syndrome [RCV000845038] ChrX:27346252..33328836 [GRCh37]
ChrX:Xp21.3-21.1
not provided
GRCh37/hg19 Xp21.2(chrX:30892354-31250086)x2 copy number gain not provided [RCV000849681] ChrX:30892354..31250086 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
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
NM_152787.5(TAB3):c.1866A>G (p.Val622=) single nucleotide variant not provided [RCV000887306] ChrX:30842988 [GRCh38]
ChrX:30861105 [GRCh37]
ChrX:Xp21.2
benign
NM_152787.5(TAB3):c.537G>A (p.Pro179=) single nucleotide variant not provided [RCV000888432] ChrX:30855128 [GRCh38]
ChrX:30873245 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2(chrX:30780009-31458625)x3 copy number gain not provided [RCV001007282] ChrX:30780009..31458625 [GRCh37]
ChrX:Xp21.2
uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1 copy number loss not provided [RCV001259445] ChrX:28309706..31853992 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
GRCh37/hg19 Xp21.2(chrX:30870218-31102254)x3 copy number gain not provided [RCV001259441] ChrX:30870218..31102254 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30681 AgrOrtholog
COSMIC TAB3 COSMIC
Ensembl Genes ENSG00000157625 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000288422 UniProtKB/TrEMBL
  ENSP00000368212 UniProtKB/Swiss-Prot
  ENSP00000368214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433193 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288422 UniProtKB/TrEMBL
  ENST00000378930 UniProtKB/Swiss-Prot
  ENST00000378932 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378933 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000467136 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000157625 GTEx
HGNC ID HGNC:30681 ENTREZGENE
Human Proteome Map TAB3 Human Proteome Map
InterPro CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAB2/3_CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RanBP2 UniProtKB/Swiss-Prot
  Znf_RanBP2_sf UniProtKB/Swiss-Prot
KEGG Report hsa:257397 UniProtKB/Swiss-Prot
NCBI Gene 257397 ENTREZGENE
OMIM 300480 OMIM
Pfam CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165757406 PharmGKB
PROSITE CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RANBP2_1 UniProtKB/Swiss-Prot
  ZF_RANBP2_2 UniProtKB/Swiss-Prot
SMART CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_RBZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF90209 UniProtKB/Swiss-Prot
UniProt A0A0A0MQY2_HUMAN UniProtKB/TrEMBL
  F6SS63_HUMAN UniProtKB/TrEMBL
  Q8N5C8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NDD9 UniProtKB/Swiss-Prot
  Q6VQR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-20 TAB3  TGF-beta activated kinase 1 (MAP3K7) binding protein 3    TGF-beta activated kinase 1 and MAP3K7 binding protein 3  Symbol and/or name change 5135510 APPROVED
2017-01-24 TAB3  TGF-beta activated kinase 1 and MAP3K7 binding protein 3    TGF-beta activated kinase 1/MAP3K7 binding protein 3  Symbol and/or name change 5135510 APPROVED
2011-09-01 TAB3  TGF-beta activated kinase 1/MAP3K7 binding protein 3  TAB3  TGF-beta activated kinase 1/MAP3K7 binding protein 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 TAB3  TGF-beta activated kinase 1/MAP3K7 binding protein 3  MAP3K7IP3  mitogen-activated protein kinase kinase kinase 7 interacting protein 3  Symbol and/or name change 5135510 APPROVED