SH3KBP1 (SH3 domain containing kinase binding protein 1) - Rat Genome Database

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Gene: SH3KBP1 (SH3 domain containing kinase binding protein 1) Homo sapiens
Analyze
Symbol: SH3KBP1
Name: SH3 domain containing kinase binding protein 1
RGD ID: 732890
HGNC Page HGNC
Description: Predicted to have SH3 domain binding activity. Involved in several processes, including cytoskeleton organization; positive regulation of B cell activation; and regulation of cell shape. Localizes to cytoplasm. Implicated in immunodeficiency 61.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGMX2; c-Cbl-interacting protein; cbl-interacting protein of 85 kDa; CD2-binding protein 3; CD2BP3; CIN85; GIG10; HSB-1; HSB1; human Src family kinase-binding protein 1; IMD61; MIG18; migration-inducing gene 18; SH3 domain-containing kinase-binding protein 1; SH3-domain kinase binding protein 1; Src family kinase-binding protein 1; src-related kinase binding protein-1
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 EnsemblX19,533,977 - 19,887,600 (-)EnsemblGRCh38hg38GRCh38
GRCh38X19,533,977 - 19,887,600 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,552,095 - 19,905,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,463,441 - 19,815,640 (-)NCBINCBI36hg18NCBI36
Build 34X19,313,176 - 19,665,376NCBI
CeleraX23,675,636 - 24,008,177 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,300,128 - 17,651,187 (-)NCBIHuRef
CHM1_1X19,582,478 - 19,936,208 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aflatoxin B2  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
calcitriol  (EXP)
capsaicin  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel dichloride  (ISO)
nicotine  (EXP)
oxidopamine  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Additional References at PubMed
PMID:7566098   PMID:8889549   PMID:9507006   PMID:9857189   PMID:10679202   PMID:10858458   PMID:10921882   PMID:11071869   PMID:11152963   PMID:11474197   PMID:11894095   PMID:11894096  
PMID:12029088   PMID:12135478   PMID:12177062   PMID:12218189   PMID:12477932   PMID:12618476   PMID:12690097   PMID:12734385   PMID:12771190   PMID:12829691   PMID:12874286   PMID:12946264  
PMID:14596919   PMID:15090612   PMID:15107835   PMID:15144186   PMID:15147912   PMID:15342556   PMID:15456872   PMID:15476827   PMID:15489334   PMID:15557335   PMID:15707590   PMID:15719014  
PMID:15761153   PMID:15824310   PMID:15962011   PMID:16083285   PMID:16164598   PMID:16177060   PMID:16223483   PMID:16228008   PMID:16256071   PMID:16407834   PMID:16537602   PMID:16678097  
PMID:16733801   PMID:16751601   PMID:16849543   PMID:16895919   PMID:17020880   PMID:17072306   PMID:17081983   PMID:17174262   PMID:17244534   PMID:17255943   PMID:17306257   PMID:17314030  
PMID:17428861   PMID:17474147   PMID:17606992   PMID:17675467   PMID:17823309   PMID:18029348   PMID:18048363   PMID:18076569   PMID:18266907   PMID:18362180   PMID:18641129   PMID:18680311  
PMID:19111555   PMID:19166927   PMID:19268472   PMID:19322201   PMID:19417776   PMID:19531213   PMID:20130058   PMID:20216986   PMID:20221403   PMID:20360068   PMID:20457601   PMID:20473970  
PMID:20551902   PMID:20654576   PMID:20711168   PMID:20927317   PMID:21191027   PMID:21275903   PMID:21372129   PMID:21446695   PMID:21516116   PMID:21635887   PMID:21725061   PMID:21822214  
PMID:21830225   PMID:21834987   PMID:21900206   PMID:22203040   PMID:22262777   PMID:22558309   PMID:22623531   PMID:22658674   PMID:22745667   PMID:22791810   PMID:22815893   PMID:22833562  
PMID:22939629   PMID:23085457   PMID:23178720   PMID:23279575   PMID:23506116   PMID:23663663   PMID:24039852   PMID:24167568   PMID:25005938   PMID:25036637   PMID:25416956   PMID:25449262  
PMID:25468996   PMID:25472714   PMID:25496667   PMID:25816594   PMID:26169354   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27334924   PMID:27353366   PMID:27609421  
PMID:28514442   PMID:29227594   PMID:29507755   PMID:29589748   PMID:29636373   PMID:29791485   PMID:30089695   PMID:30397336   PMID:31142511   PMID:31413325   PMID:31452512   PMID:31586073  
PMID:31980649   PMID:32203420   PMID:32296183   PMID:32814053   PMID:33430321  


Genomics

Comparative Map Data
SH3KBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX19,533,977 - 19,887,600 (-)EnsemblGRCh38hg38GRCh38
GRCh38X19,533,977 - 19,887,600 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,552,095 - 19,905,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,463,441 - 19,815,640 (-)NCBINCBI36hg18NCBI36
Build 34X19,313,176 - 19,665,376NCBI
CeleraX23,675,636 - 24,008,177 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,300,128 - 17,651,187 (-)NCBIHuRef
CHM1_1X19,582,478 - 19,936,208 (-)NCBICHM1_1
Sh3kbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,409,888 - 158,758,916 (+)NCBIGRCm39mm39
GRCm39 EnsemblX158,410,268 - 158,761,065 (+)Ensembl
GRCm38X159,626,892 - 159,975,920 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX159,627,272 - 159,978,069 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X156,065,340 - 156,413,849 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X155,052,706 - 155,318,272 (+)NCBImm8
CeleraX142,872,597 - 143,219,835 (+)NCBICelera
Cytogenetic MapXF4NCBI
Sh3kbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X34,877,862 - 35,223,013 (-)NCBI
Rnor_6.0 EnsemblX37,790,586 - 38,196,204 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X37,790,004 - 38,196,365 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X38,094,434 - 38,505,289 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X56,075,533 - 56,422,980 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X56,129,005 - 56,476,449 (-)NCBI
CeleraX35,544,608 - 35,884,206 (-)NCBICelera
Cytogenetic MapXq14NCBI
Sh3kbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555094,960 - 345,012 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555096,157 - 344,930 (-)NCBIChiLan1.0ChiLan1.0
SH3KBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X19,517,952 - 19,822,925 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX19,517,952 - 19,822,931 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X12,154,789 - 12,511,949 (-)NCBIMhudiblu_PPA_v0panPan3
SH3KBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,482,593 - 15,818,113 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,484,680 - 15,817,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X15,442,674 - 15,782,235 (-)NCBI
UMICH_Zoey_3.1X15,491,286 - 15,830,650 (-)NCBI
UNSW_CanFamBas_1.0X15,493,198 - 15,832,564 (-)NCBI
UU_Cfam_GSD_1.0X15,560,580 - 15,900,196 (-)NCBI
Sh3kbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X8,541,179 - 8,830,808 (-)NCBI
SpeTri2.0NW_0049366244,327,100 - 4,616,724 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH3KBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,885,412 - 16,224,238 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,887,131 - 16,229,212 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X17,136,481 - 17,492,932 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SH3KBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,999,262 - 18,357,003 (-)NCBI
ChlSab1.1 EnsemblX17,999,211 - 18,357,157 (-)Ensembl
Sh3kbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248294,329,959 - 4,714,329 (-)NCBI

Position Markers
RH94355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,552,340 - 19,552,509UniSTSGRCh37
Build 36X19,462,261 - 19,462,430RGDNCBI36
CeleraX23,675,893 - 23,676,062RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,300,385 - 17,300,554UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
DXS8005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,881,607 - 19,881,676UniSTSGRCh37
Build 36X19,791,528 - 19,791,597RGDNCBI36
CeleraX24,004,947 - 24,005,016RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,627,260 - 17,627,329UniSTS
DXS8004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,591,814 - 19,591,922UniSTSGRCh37
GRCh37X19,591,814 - 19,591,921UniSTSGRCh37
Build 36X19,501,735 - 19,501,843RGDNCBI36
CeleraX23,715,185 - 23,715,292UniSTS
CeleraX23,715,185 - 23,715,293RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,339,615 - 17,339,723UniSTS
HuRefX17,339,615 - 17,339,722UniSTS
DXS443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,750,661 - 19,750,868UniSTSGRCh37
Build 36X19,660,582 - 19,660,789RGDNCBI36
CeleraX23,873,594 - 23,873,799RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,497,947 - 17,498,154UniSTS
DXS3424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,750,655 - 19,750,792UniSTSGRCh37
Build 36X19,660,576 - 19,660,713RGDNCBI36
CeleraX23,873,588 - 23,873,723RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,497,941 - 17,498,078UniSTS
G62700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,587,290 - 19,587,564UniSTSGRCh37
Build 36X19,497,211 - 19,497,485RGDNCBI36
CeleraX23,710,661 - 23,710,935RGD
Cytogenetic MapXp22.1-p21.3UniSTS
RH45953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,599,085 - 19,599,230UniSTSGRCh37
Build 36X19,509,006 - 19,509,151RGDNCBI36
CeleraX23,722,456 - 23,722,601RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,346,886 - 17,347,031UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
SHGC-143702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,700,290 - 19,700,600UniSTSGRCh37
Build 36X19,610,211 - 19,610,521RGDNCBI36
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,447,513 - 17,447,805UniSTS
187J3_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,888,997 - 19,889,325UniSTSGRCh37
Build 36X19,798,918 - 19,799,246RGDNCBI36
CeleraX24,012,382 - 24,012,710RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,634,654 - 17,634,982UniSTS
24O6_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,844,382 - 19,844,483UniSTSGRCh37
Build 36X19,754,303 - 19,754,404RGDNCBI36
CeleraX23,967,562 - 23,967,663RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,590,538 - 17,590,639UniSTS
442A14_SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,669,391 - 19,669,586UniSTSGRCh37
Build 36X19,579,312 - 19,579,507RGDNCBI36
CeleraX23,792,759 - 23,792,954RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,417,243 - 17,417,438UniSTS
692N21_SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,889,152 - 19,889,355UniSTSGRCh37
Build 36X19,799,073 - 19,799,276RGDNCBI36
CeleraX24,012,537 - 24,012,740RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,634,809 - 17,635,012UniSTS
692N21_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,721,183 - 19,721,419UniSTSGRCh37
Build 36X19,631,104 - 19,631,340RGDNCBI36
CeleraX23,844,113 - 23,844,349RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,468,640 - 17,468,876UniSTS
G31065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,552,192 - 19,552,326UniSTSGRCh37
Build 36X19,462,113 - 19,462,247RGDNCBI36
CeleraX23,675,745 - 23,675,879RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,300,237 - 17,300,371UniSTS
RH18201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,553,602 - 19,553,786UniSTSGRCh37
Build 36X19,463,523 - 19,463,707RGDNCBI36
CeleraX23,677,155 - 23,677,339RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,301,705 - 17,301,889UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
NCBI RH MapX10.0UniSTS
L77818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,836,463 - 19,836,622UniSTSGRCh37
Build 36X19,746,384 - 19,746,543RGDNCBI36
CeleraX23,959,643 - 23,959,802RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,582,620 - 17,582,779UniSTS
DXS9770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,898,285 - 19,898,416UniSTSGRCh37
Build 36X19,808,206 - 19,808,337RGDNCBI36
CeleraX24,021,871 - 24,022,002RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,643,942 - 17,644,073UniSTS
DXS8176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,750,988 - 19,751,129UniSTSGRCh37
Build 36X19,660,909 - 19,661,050RGDNCBI36
CeleraX23,873,919 - 23,874,060RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX17,498,274 - 17,498,415UniSTS
DXS8004  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1-p21.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4758
Count of miRNA genes:1342
Interacting mature miRNAs:1747
Transcripts:ENST00000379697, ENST00000379698, ENST00000379716, ENST00000379726, ENST00000397821, ENST00000431164, ENST00000432234, ENST00000477102, ENST00000494961, ENST00000541422
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1147 1870 1082 162 1863 123 3156 591 2430 231 637 1529 52 1204 1601 4
Low 1288 1115 641 462 85 341 1199 1603 1297 187 815 77 120 1187 1 2
Below cutoff 2 2 1 3 1 1 1 1 6 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF230904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF329267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF329268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF542051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY542305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP224209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC359739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC409010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379697   ⟹   ENSP00000369019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,588,278 - 19,887,459 (-)Ensembl
RefSeq Acc Id: ENST00000379698   ⟹   ENSP00000369020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,535,693 - 19,799,751 (-)Ensembl
RefSeq Acc Id: ENST00000379716   ⟹   ENSP00000369039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,534,007 - 19,670,998 (-)Ensembl
RefSeq Acc Id: ENST00000379726   ⟹   ENSP00000369049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,536,414 - 19,746,411 (-)Ensembl
RefSeq Acc Id: ENST00000397821   ⟹   ENSP00000380921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,533,977 - 19,887,600 (-)Ensembl
RefSeq Acc Id: ENST00000431164   ⟹   ENSP00000409292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,683,824 - 19,740,837 (-)Ensembl
RefSeq Acc Id: ENST00000432234   ⟹   ENSP00000388766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,645,417 - 19,747,703 (-)Ensembl
RefSeq Acc Id: ENST00000477102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,592,068 - 19,664,715 (-)Ensembl
RefSeq Acc Id: ENST00000494961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,588,684 - 19,695,701 (-)Ensembl
RefSeq Acc Id: NM_001024666   ⟹   NP_001019837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,799,773 (-)NCBI
GRCh37X19,552,083 - 19,905,744 (-)ENTREZGENE
Build 36X19,463,732 - 19,727,789 (-)NCBI Archive
HuRefX17,300,128 - 17,651,187 (-)NCBI
CHM1_1X19,582,478 - 19,848,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001184960   ⟹   NP_001171889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,670,999 (-)NCBI
GRCh37X19,552,083 - 19,905,744 (-)ENTREZGENE
HuRefX17,300,128 - 17,651,187 (-)NCBI
CHM1_1X19,582,478 - 19,719,555 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353890   ⟹   NP_001340819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,600 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353891   ⟹   NP_001340820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,600 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353892   ⟹   NP_001340821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,600 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353893   ⟹   NP_001340822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,833,151 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353894   ⟹   NP_001340823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,833,151 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353895   ⟹   NP_001340824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,833,151 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353897   ⟹   NP_001340826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,670,999 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031892   ⟹   NP_114098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,600 (-)NCBI
GRCh37X19,552,083 - 19,905,744 (-)ENTREZGENE
Build 36X19,463,441 - 19,815,640 (-)NCBI Archive
HuRefX17,300,128 - 17,651,187 (-)NCBI
CHM1_1X19,582,478 - 19,936,208 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545498   ⟹   XP_011543800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,887,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545499   ⟹   XP_011543801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,799,786 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545500   ⟹   XP_011543802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545502   ⟹   XP_011543804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,664,834 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545503   ⟹   XP_011543805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,591,062 - 19,887,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029460   ⟹   XP_016884949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,836,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029461   ⟹   XP_016884950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,836,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029464   ⟹   XP_016884953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029465   ⟹   XP_016884954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,887,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029467   ⟹   XP_016884956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029468   ⟹   XP_016884957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,533,977 - 19,887,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029469   ⟹   XP_016884958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,535,407 - 19,670,408 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001019837 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171889 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340826 (Get FASTA)   NCBI Sequence Viewer  
  NP_114098 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543800 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543801 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543802 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543804 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543805 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884949 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884950 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884953 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884954 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884956 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884957 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884958 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF37854 (Get FASTA)   NCBI Sequence Viewer  
  AAH15806 (Get FASTA)   NCBI Sequence Viewer  
  AAH50663 (Get FASTA)   NCBI Sequence Viewer  
  AAK95587 (Get FASTA)   NCBI Sequence Viewer  
  AAN77231 (Get FASTA)   NCBI Sequence Viewer  
  AAO13348 (Get FASTA)   NCBI Sequence Viewer  
  AAS00497 (Get FASTA)   NCBI Sequence Viewer  
  AAT08174 (Get FASTA)   NCBI Sequence Viewer  
  BAG36113 (Get FASTA)   NCBI Sequence Viewer  
  BAH11470 (Get FASTA)   NCBI Sequence Viewer  
  BAH11471 (Get FASTA)   NCBI Sequence Viewer  
  BAH13234 (Get FASTA)   NCBI Sequence Viewer  
  CAK32182 (Get FASTA)   NCBI Sequence Viewer  
  CAK32183 (Get FASTA)   NCBI Sequence Viewer  
  EAW98964 (Get FASTA)   NCBI Sequence Viewer  
  EAW98965 (Get FASTA)   NCBI Sequence Viewer  
  EAW98966 (Get FASTA)   NCBI Sequence Viewer  
  EAW98967 (Get FASTA)   NCBI Sequence Viewer  
  Q96B97 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_114098   ⟸   NM_031892
- Peptide Label: isoform a
- UniProtKB: Q96B97 (UniProtKB/Swiss-Prot),   Q5JPT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001019837   ⟸   NM_001024666
- Peptide Label: isoform b
- UniProtKB: Q96B97 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171889   ⟸   NM_001184960
- Peptide Label: isoform c
- UniProtKB: Q96B97 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543802   ⟸   XM_011545500
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543800   ⟸   XM_011545498
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543801   ⟸   XM_011545499
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543804   ⟸   XM_011545502
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011543805   ⟸   XM_011545503
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884957   ⟸   XM_017029468
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884953   ⟸   XM_017029464
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884956   ⟸   XM_017029467
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884954   ⟸   XM_017029465
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884950   ⟸   XM_017029461
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884949   ⟸   XM_017029460
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884958   ⟸   XM_017029469
- Peptide Label: isoform X12
- UniProtKB: Q96B97 (UniProtKB/Swiss-Prot),   B7Z6E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340819   ⟸   NM_001353890
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001340821   ⟸   NM_001353892
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001340820   ⟸   NM_001353891
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001340823   ⟸   NM_001353894
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: NP_001340822   ⟸   NM_001353893
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001340824   ⟸   NM_001353895
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001340826   ⟸   NM_001353897
- Peptide Label: isoform j
- Sequence:
RefSeq Acc Id: ENSP00000369019   ⟸   ENST00000379697
RefSeq Acc Id: ENSP00000369020   ⟸   ENST00000379698
RefSeq Acc Id: ENSP00000369039   ⟸   ENST00000379716
RefSeq Acc Id: ENSP00000369049   ⟸   ENST00000379726
RefSeq Acc Id: ENSP00000409292   ⟸   ENST00000431164
RefSeq Acc Id: ENSP00000388766   ⟸   ENST00000432234
RefSeq Acc Id: ENSP00000380921   ⟸   ENST00000397821
Protein Domains
SH3

Promoters
RGD ID:6808585
Promoter ID:HG_KWN:66186
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:UC010NFM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,497,276 - 19,498,342 (-)MPROMDB
RGD ID:6808729
Promoter ID:HG_KWN:66187
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000397811
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,575,896 - 19,576,797 (-)MPROMDB
RGD ID:6809259
Promoter ID:HG_KWN:66188
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055998
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,593,196 - 19,593,747 (-)MPROMDB
RGD ID:6809253
Promoter ID:HG_KWN:66189
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001184960
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,598,756 - 19,599,256 (-)MPROMDB
RGD ID:6809260
Promoter ID:HG_KWN:66190
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000056000
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,623,406 - 19,624,697 (-)MPROMDB
RGD ID:6808730
Promoter ID:HG_KWN:66191
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000397804
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,634,746 - 19,635,957 (-)MPROMDB
RGD ID:6809257
Promoter ID:HG_KWN:66192
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000055997
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,668,806 - 19,669,747 (-)MPROMDB
RGD ID:6809254
Promoter ID:HG_KWN:66193
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055995
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,673,996 - 19,675,107 (-)MPROMDB
RGD ID:6809258
Promoter ID:HG_KWN:66194
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000055996
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,675,596 - 19,676,397 (-)MPROMDB
RGD ID:6809252
Promoter ID:HG_KWN:66195
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:NM_001024666
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,727,581 - 19,728,157 (-)MPROMDB
RGD ID:6814835
Promoter ID:HG_XEF:8539
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_001030805
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,764,114 - 19,764,614 (-)MPROMDB
RGD ID:13604886
Promoter ID:EPDNEW_H28628
Type:initiation region
Name:SH3KBP1_2
Description:SH3 domain containing kinase binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28629  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,799,773 - 19,799,833EPDNEW
RGD ID:6808723
Promoter ID:HG_KWN:66196
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379697,   ENST00000379702,   ENST00000397808,   NM_031892
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,815,436 - 19,816,562 (-)MPROMDB
RGD ID:13604890
Promoter ID:EPDNEW_H28629
Type:initiation region
Name:SH3KBP1_1
Description:SH3 domain containing kinase binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28628  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,887,600 - 19,887,660EPDNEW

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_031892.2(SH3KBP1):c.1494+1496C>A single nucleotide variant Lung cancer [RCV000102464] ChrX:19548478 [GRCh38]
ChrX:19566596 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_031892.2(SH3KBP1):c.727-14586A>G single nucleotide variant Lung cancer [RCV000102465] ChrX:19660061 [GRCh38]
ChrX:19678179 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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-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 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 copy number loss See cases [RCV000051385] ChrX:19677033..19881974 [GRCh38]
ChrX:19695151..19900092 [GRCh37]
ChrX:19605072..19810013 [NCBI36]
ChrX:Xp22.12		 uncertain significance
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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.3(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 Xp22.33-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 Xp22.12(chrX:19624798-20573750)x3 copy number gain See cases [RCV000052384] ChrX:19624798..20573750 [GRCh38]
ChrX:19642916..20591868 [GRCh37]
ChrX:19552837..20501789 [NCBI36]
ChrX:Xp22.12		 pathogenic
GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 copy number gain See cases [RCV000052385] ChrX:19878110..20395102 [GRCh38]
ChrX:19896228..20413220 [GRCh37]
ChrX:19806149..20323141 [NCBI36]
ChrX:Xp22.12		 pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(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 Xp22.33-11.21(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 Xp22.33-11.21(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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_031892.2(SH3KBP1):c.1387T>C (p.Leu463=) single nucleotide variant Malignant melanoma [RCV000073147] ChrX:19550081 [GRCh38]
ChrX:19568199 [GRCh37]
ChrX:19478120 [NCBI36]
ChrX:Xp22.12		 not provided
NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly) single nucleotide variant not provided [RCV000087241] ChrX:19588683 [GRCh38]
ChrX:19606801 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Unilateral renal agenesis [RCV001291960] ChrX:19183657..20215858 [GRCh37]
ChrX:Xp22.13-22.12		 pathogenic
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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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 Xp22.33-11.23(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-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-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 Xp22.33-11.21(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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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 Xp22.13-22.12(chrX:19073372-19743908)x2 copy number gain See cases [RCV000137714] ChrX:19073372..19743908 [GRCh38]
ChrX:19091490..19762026 [GRCh37]
ChrX:19001411..19671947 [NCBI36]
ChrX:Xp22.13-22.12		 uncertain significance
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 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12		 uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2		 pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-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-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 Xp22.33-11.4(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: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 Xp22.33-11.22(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-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 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 Xp22.33-11.22(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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NC_000023.10:g.19667630_19886572del deletion Immunodeficiency 61 [RCV000768376] ChrX:Xp22.12 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.21(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.12(chrX:19855485-20154502)x3 copy number gain See cases [RCV000446019] ChrX:19855485..20154502 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2		 likely pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Torticollis [RCV000626551] ChrX:19030055..19591281 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.12(chrX:19515847-19825756)x2 copy number gain not provided [RCV000753415] ChrX:19515847..19825756 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.12(chrX:19561853-19949936)x3 copy number gain not provided [RCV000753416] ChrX:19561853..19949936 [GRCh37]
ChrX:Xp22.12		 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: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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely 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 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12		 pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12		 pathogenic
NM_031892.3(SH3KBP1):c.801G>C (p.Lys267Asn) single nucleotide variant Esophageal atresia [RCV000984679] ChrX:19645401 [GRCh38]
ChrX:19663519 [GRCh37]
ChrX:Xp22.12		 likely 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
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 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.12(chrX:19560561-19952212)x2 copy number gain not provided [RCV000846452] ChrX:19560561..19952212 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.12(chrX:19665569-19942210)x3 copy number gain not provided [RCV000846563] ChrX:19665569..19942210 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:19258311-20193960)x2 copy number gain not provided [RCV000845973] ChrX:19258311..20193960 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NM_031892.3(SH3KBP1):c.1621C>G (p.Gln541Glu) single nucleotide variant not provided [RCV000963537] ChrX:19545924 [GRCh38]
ChrX:19564042 [GRCh37]
ChrX:Xp22.12		 benign
NM_031892.3(SH3KBP1):c.42C>T (p.His14=) single nucleotide variant not provided [RCV000948149] ChrX:19836245 [GRCh38]
ChrX:19854363 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.13-22.12(chrX:19167477-19595672)x3 copy number gain not provided [RCV001007270] ChrX:19167477..19595672 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_031892.3(SH3KBP1):c.1657C>T (p.Pro553Ser) single nucleotide variant not provided [RCV001320559] ChrX:19542160 [GRCh38]
ChrX:19560278 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NM_031892.3(SH3KBP1):c.264G>A (p.Thr88=) single nucleotide variant not provided [RCV001311820] ChrX:19746340 [GRCh38]
ChrX:19764458 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_031892.3(SH3KBP1):c.1635C>A (p.Asn545Lys) single nucleotide variant not provided [RCV001294600] ChrX:19542182 [GRCh38]
ChrX:19560300 [GRCh37]
ChrX:Xp22.12		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13867 AgrOrtholog
COSMIC SH3KBP1 COSMIC
Ensembl Genes ENSG00000147010 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369019 UniProtKB/TrEMBL
  ENSP00000369020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369049 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000380921 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388766 UniProtKB/TrEMBL
  ENSP00000409292 UniProtKB/TrEMBL
Ensembl Transcript ENST00000379697 UniProtKB/TrEMBL
  ENST00000379698 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379716 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379726 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000397821 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431164 UniProtKB/TrEMBL
  ENST00000432234 UniProtKB/TrEMBL
GTEx ENSG00000147010 GTEx
HGNC ID HGNC:13867 ENTREZGENE
Human Proteome Map SH3KBP1 Human Proteome Map
InterPro CD2AP UniProtKB/TrEMBL
  CIN85_SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CIN85_SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CIN85_SH3_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sorbin_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30011 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 30011 ENTREZGENE
OMIM 300310 OMIM
  300374 OMIM
PANTHER PTHR14167:SF23 UniProtKB/TrEMBL
  PTHR14167:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37822 PharmGKB
PRINTS SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z6E8 ENTREZGENE, UniProtKB/TrEMBL
  L0R6P6_HUMAN UniProtKB/TrEMBL
  Q5JPT1_HUMAN UniProtKB/TrEMBL
  Q5JPT2_HUMAN UniProtKB/TrEMBL
  Q5JPT3_HUMAN UniProtKB/TrEMBL
  Q5JPT6 ENTREZGENE, UniProtKB/TrEMBL
  Q5VSN0_HUMAN UniProtKB/TrEMBL
  Q96B97 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z1D5 UniProtKB/Swiss-Prot
  Q5JPT4 UniProtKB/Swiss-Prot
  Q5JPT5 UniProtKB/Swiss-Prot
  Q8IWX6 UniProtKB/Swiss-Prot
  Q8IX98 UniProtKB/Swiss-Prot
  Q96RN4 UniProtKB/Swiss-Prot
  Q9NYR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 SH3KBP1  SH3 domain containing kinase binding protein 1    SH3-domain kinase binding protein 1  Symbol and/or name change 5135510 APPROVED