KLHL13 (kelch like family member 13) - Rat Genome Database

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Gene: KLHL13 (kelch like family member 13) Homo sapiens
Analyze
Symbol: KLHL13
Name: kelch like family member 13
RGD ID: 1342476
HGNC Page HGNC
Description: Exhibits cullin family protein binding activity and protein N-terminus binding activity. Contributes to ubiquitin-protein transferase activity. Involved in protein ubiquitination and regulation of cytokinesis. Localizes to Cul3-RING ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BKLHD2; BTB and kelch domain containing 2; FLJ10262; kelch-like 13; kelch-like family member 13; kelch-like protein 13; KIAA1309; MGC74791
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 EnsemblX117,897,813 - 118,117,340 (-)EnsemblGRCh38hg38GRCh38
GRCh38X117,897,813 - 118,117,340 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X117,031,776 - 117,251,303 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X116,915,804 - 116,990,881 (-)NCBINCBI36hg18NCBI36
Build 34X116,813,657 - 116,888,735NCBI
CeleraX117,486,583 - 117,706,100 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX106,526,310 - 106,745,823 (-)NCBIHuRef
CHM1_1X116,942,701 - 117,162,205 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:14528312   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15772651   PMID:16344560   PMID:17543862   PMID:18075312   PMID:18775313   PMID:19084217  
PMID:19295130   PMID:19615732   PMID:19995937   PMID:21145461   PMID:21873635   PMID:22939624   PMID:23314748   PMID:23676014   PMID:25921289   PMID:26186194   PMID:26496610   PMID:27565346  
PMID:28514442   PMID:28581483   PMID:28619731   PMID:29507755   PMID:30021884   PMID:30190310   PMID:31067453   PMID:31515271   PMID:31594818  


Genomics

Comparative Map Data
KLHL13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX117,897,813 - 118,117,340 (-)EnsemblGRCh38hg38GRCh38
GRCh38X117,897,813 - 118,117,340 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X117,031,776 - 117,251,303 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X116,915,804 - 116,990,881 (-)NCBINCBI36hg18NCBI36
Build 34X116,813,657 - 116,888,735NCBI
CeleraX117,486,583 - 117,706,100 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX106,526,310 - 106,745,823 (-)NCBIHuRef
CHM1_1X116,942,701 - 117,162,205 (-)NCBICHM1_1
Klhl13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X23,085,510 - 23,231,340 (-)NCBIGRCm39mm39
GRCm39 EnsemblX23,085,510 - 23,231,321 (-)Ensembl
GRCm38X23,219,271 - 23,365,161 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX23,219,271 - 23,365,082 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X22,796,397 - 22,942,179 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X22,376,230 - 22,522,012 (-)NCBImm8
CeleraX21,314,201 - 21,459,747 (-)NCBICelera
Cytogenetic MapXA2NCBI
Klhl13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X113,942,309 - 114,107,355 (-)NCBI
Rnor_6.0 EnsemblX121,578,940 - 121,731,543 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X121,578,965 - 121,735,014 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X121,716,856 - 121,876,640 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X10,344,050 - 10,424,665 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX113,160,518 - 113,316,894 (-)NCBICelera
Cytogenetic MapXq34NCBI
Klhl13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555341,906,928 - 2,127,485 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555341,906,783 - 2,127,266 (+)NCBIChiLan1.0ChiLan1.0
KLHL13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X117,320,192 - 117,538,413 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX117,320,192 - 117,450,771 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X106,904,105 - 107,122,969 (-)NCBIMhudiblu_PPA_v0panPan3
KLHL13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X90,138,375 - 90,355,105 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX90,139,103 - 90,355,188 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX76,279,833 - 76,496,370 (-)NCBI
ROS_Cfam_1.0X91,884,816 - 92,095,044 (-)NCBI
UMICH_Zoey_3.1X89,332,313 - 89,549,137 (-)NCBI
UNSW_CanFamBas_1.0X91,091,066 - 91,300,985 (-)NCBI
UU_Cfam_GSD_1.0X90,826,306 - 91,036,222 (-)NCBI
Klhl13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X89,133,964 - 89,315,675 (-)NCBI
SpeTri2.0NW_00493647911,671,773 - 11,853,531 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLHL13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX96,544,092 - 96,744,764 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X96,545,099 - 96,950,242 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X114,935,916 - 115,075,998 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLHL13
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Klhl13
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248951,714,144 - 1,917,653 (-)NCBI

Position Markers
AL032573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,112,263 - 117,112,441UniSTSGRCh37
Build 36X116,996,291 - 116,996,469RGDNCBI36
CeleraX117,567,058 - 117,567,236RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,606,339 - 106,606,517UniSTS
DXS1305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,127,070 - 117,127,176UniSTSGRCh37
Build 36X117,011,098 - 117,011,204RGDNCBI36
CeleraX117,581,863 - 117,581,969RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,621,312 - 106,621,418UniSTS
DXS7918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,111,914 - 117,112,056UniSTSGRCh37
Build 36X116,995,942 - 116,996,084RGDNCBI36
CeleraX117,566,709 - 117,566,851RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,605,990 - 106,606,132UniSTS
AL031562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,177,522 - 117,177,742UniSTSGRCh37
Build 36X117,061,550 - 117,061,770RGDNCBI36
CeleraX117,632,314 - 117,632,534RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,672,202 - 106,672,422UniSTS
DXS8218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,162,672 - 117,162,777UniSTSGRCh37
Build 36X117,046,700 - 117,046,805RGDNCBI36
CeleraX117,617,464 - 117,617,569RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,657,352 - 106,657,457UniSTS
AF020103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,158,208 - 117,158,272UniSTSGRCh37
Build 36X117,042,236 - 117,042,300RGDNCBI36
CeleraX117,613,000 - 117,613,064RGD
Cytogenetic MapXq23-q24UniSTS
HuRefX106,652,888 - 106,652,952UniSTS
RH65357  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq23-q24UniSTS
GeneMap99-GB4 RH Map962.98UniSTS
KLHL13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X117,053,542 - 117,054,248UniSTSGRCh37
CeleraX117,508,350 - 117,509,056UniSTS
HuRefX106,548,070 - 106,548,776UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6047
Count of miRNA genes:692
Interacting mature miRNAs:788
Transcripts:ENST00000262820, ENST00000371876, ENST00000371878, ENST00000371882, ENST00000447671, ENST00000453826, ENST00000469946, ENST00000539496, ENST00000540167, ENST00000541812, ENST00000545703
Prediction methods: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
High
Medium 65 37 5 3 17 3 100 52 235 94 248 63 2 22
Low 2232 2090 1391 431 569 272 3608 1818 3337 301 1157 1213 169 1143 2391 1
Below cutoff 98 775 316 183 1096 184 638 322 151 22 38 302 3 1 61 375 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP380009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA214831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA413195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB074659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC343916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262820   ⟹   ENSP00000262820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 117,973,738 (-)Ensembl
RefSeq Acc Id: ENST00000371876   ⟹   ENSP00000360943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 117,947,942 (-)Ensembl
RefSeq Acc Id: ENST00000371878   ⟹   ENSP00000360945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 117,973,579 (-)Ensembl
RefSeq Acc Id: ENST00000371882   ⟹   ENSP00000360949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,813 - 118,116,798 (-)Ensembl
RefSeq Acc Id: ENST00000453826   ⟹   ENSP00000393807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,920,345 - 118,028,495 (-)Ensembl
RefSeq Acc Id: ENST00000469946   ⟹   ENSP00000419803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,898,572 - 117,985,320 (-)Ensembl
RefSeq Acc Id: ENST00000540167   ⟹   ENSP00000441029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 118,116,865 (-)Ensembl
RefSeq Acc Id: ENST00000541812   ⟹   ENSP00000444450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 118,117,340 (-)Ensembl
RefSeq Acc Id: ENST00000545703   ⟹   ENSP00000440707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX117,897,814 - 118,116,865 (-)Ensembl
RefSeq Acc Id: NM_001168299   ⟹   NP_001161771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 117,985,329 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,030,310 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168300   ⟹   NP_001161772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 117,973,797 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,018,694 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168301   ⟹   NP_001161773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 118,117,340 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,162,205 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168302   ⟹   NP_001161774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 118,116,810 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,161,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168303   ⟹   NP_001161775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 118,116,810 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,161,730 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033495   ⟹   NP_277030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 117,973,738 (-)NCBI
GRCh37X117,031,776 - 117,251,303 (-)RGD
Build 36X116,915,804 - 116,990,881 (-)NCBI Archive
CeleraX117,486,583 - 117,706,100 (-)RGD
HuRefX106,526,310 - 106,745,823 (-)ENTREZGENE
CHM1_1X116,942,701 - 117,018,635 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531409   ⟹   XP_011529711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 118,029,696 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531410   ⟹   XP_011529712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,898,132 - 118,116,566 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531411   ⟹   XP_011529713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 117,973,775 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029950   ⟹   XP_016885439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,897,813 - 118,029,692 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001161771 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161772 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161775 (Get FASTA)   NCBI Sequence Viewer  
  NP_277030 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529711 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529712 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529713 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885439 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF03529 (Get FASTA)   NCBI Sequence Viewer  
  AAH08729 (Get FASTA)   NCBI Sequence Viewer  
  AAH64576 (Get FASTA)   NCBI Sequence Viewer  
  BAA91514 (Get FASTA)   NCBI Sequence Viewer  
  BAA92547 (Get FASTA)   NCBI Sequence Viewer  
  BAG53690 (Get FASTA)   NCBI Sequence Viewer  
  BAG54189 (Get FASTA)   NCBI Sequence Viewer  
  BAH12315 (Get FASTA)   NCBI Sequence Viewer  
  BAH12605 (Get FASTA)   NCBI Sequence Viewer  
  BAH12978 (Get FASTA)   NCBI Sequence Viewer  
  BAH13788 (Get FASTA)   NCBI Sequence Viewer  
  BAH14880 (Get FASTA)   NCBI Sequence Viewer  
  CAC41335 (Get FASTA)   NCBI Sequence Viewer  
  EAW89898 (Get FASTA)   NCBI Sequence Viewer  
  EAW89899 (Get FASTA)   NCBI Sequence Viewer  
  EAW89900 (Get FASTA)   NCBI Sequence Viewer  
  Q9P2N7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_277030   ⟸   NM_033495
- Peptide Label: isoform a
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161773   ⟸   NM_001168301
- Peptide Label: isoform d
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161774   ⟸   NM_001168302
- Peptide Label: isoform d
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   B7ZB44 (UniProtKB/TrEMBL),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161775   ⟸   NM_001168303
- Peptide Label: isoform e
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161771   ⟸   NM_001168299
- Peptide Label: isoform b
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   A0A0C4DG99 (UniProtKB/TrEMBL),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161772   ⟸   NM_001168300
- Peptide Label: isoform c
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot),   Q96HC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529712   ⟸   XM_011531410
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529711   ⟸   XM_011531409
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529713   ⟸   XM_011531411
- Peptide Label: isoform X2
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885439   ⟸   XM_017029950
- Peptide Label: isoform X3
- UniProtKB: Q9P2N7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000444450   ⟸   ENST00000541812
RefSeq Acc Id: ENSP00000360943   ⟸   ENST00000371876
RefSeq Acc Id: ENSP00000360945   ⟸   ENST00000371878
RefSeq Acc Id: ENSP00000360949   ⟸   ENST00000371882
RefSeq Acc Id: ENSP00000440707   ⟸   ENST00000545703
RefSeq Acc Id: ENSP00000393807   ⟸   ENST00000453826
RefSeq Acc Id: ENSP00000419803   ⟸   ENST00000469946
RefSeq Acc Id: ENSP00000262820   ⟸   ENST00000262820
RefSeq Acc Id: ENSP00000441029   ⟸   ENST00000540167
Protein Domains
BACK   BTB

Promoters
RGD ID:13627922
Promoter ID:EPDNEW_H29236
Type:initiation region
Name:KLHL13_2
Description:kelch like family member 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29237  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X117,973,724 - 117,973,784EPDNEW
RGD ID:13627924
Promoter ID:EPDNEW_H29237
Type:initiation region
Name:KLHL13_1
Description:kelch like family member 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29236  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X118,116,794 - 118,116,854EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033495.3(KLHL13):c.1148G>A (p.Gly383Asp) single nucleotide variant Malignant melanoma [RCV000073048] ChrX:117909519 [GRCh38]
ChrX:117043482 [GRCh37]
ChrX:116927510 [NCBI36]
ChrX:Xq24
not provided
NM_033495.3(KLHL13):c.1087G>A (p.Asp363Asn) single nucleotide variant Malignant melanoma [RCV000073049] ChrX:117909580 [GRCh38]
ChrX:117043543 [GRCh37]
ChrX:116927571 [NCBI36]
ChrX:Xq24
not provided
NM_033495.3(KLHL13):c.817G>A (p.Asp273Asn) single nucleotide variant Malignant melanoma [RCV000073050] ChrX:117909850 [GRCh38]
ChrX:117043813 [GRCh37]
ChrX:116927841 [NCBI36]
ChrX:Xq24
not provided
NM_033495.3(KLHL13):c.298G>A (p.Asp100Asn) single nucleotide variant Malignant melanoma [RCV000063938] ChrX:117920313 [GRCh38]
ChrX:117054276 [GRCh37]
ChrX:116938304 [NCBI36]
ChrX:Xq24
not provided
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-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)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: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: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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3 copy number gain See cases [RCV000140467] ChrX:117115633..118037937 [GRCh38]
ChrX:116249601..117171900 [GRCh37]
ChrX:116133629..117055928 [NCBI36]
ChrX:Xq23-24
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-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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: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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24(chrX:116556284-117496039)x3 copy number gain See cases [RCV000447608] ChrX:116556284..117496039 [GRCh37]
ChrX:Xq24
likely benign
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq23-24(chrX:115996197-117104069)x3 copy number gain not provided [RCV000684376] ChrX:115996197..117104069 [GRCh37]
ChrX:Xq23-24
likely benign
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_033495.3(KLHL13):c.726C>T (p.Phe242=) single nucleotide variant not provided [RCV000973003] ChrX:117909941 [GRCh38]
ChrX:117043904 [GRCh37]
ChrX:Xq24
benign
NM_033495.3(KLHL13):c.1104G>A (p.Glu368=) single nucleotide variant not provided [RCV000905877] ChrX:117909563 [GRCh38]
ChrX:117043526 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_033495.3(KLHL13):c.1008G>A (p.Arg336=) single nucleotide variant not provided [RCV000916326] ChrX:117909659 [GRCh38]
ChrX:117043622 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033495.3(KLHL13):c.1059G>C (p.Leu353=) single nucleotide variant not provided [RCV000897689] ChrX:117909608 [GRCh38]
ChrX:117043571 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq23-24(chrX:116222262-117162934)x3 copy number gain not provided [RCV001259493] ChrX:116222262..117162934 [GRCh37]
ChrX:Xq23-24
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22931 AgrOrtholog
COSMIC KLHL13 COSMIC
Ensembl Genes ENSG00000003096 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360943 UniProtKB/TrEMBL
  ENSP00000360945 UniProtKB/TrEMBL
  ENSP00000360949 UniProtKB/TrEMBL
  ENSP00000393807 UniProtKB/TrEMBL
  ENSP00000419803 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441029 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444450 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371876 UniProtKB/TrEMBL
  ENST00000371878 UniProtKB/TrEMBL
  ENST00000371882 UniProtKB/TrEMBL
  ENST00000453826 UniProtKB/TrEMBL
  ENST00000469946 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540167 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541812 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545703 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000003096 GTEx
HGNC ID HGNC:22931 ENTREZGENE
Human Proteome Map KLHL13 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB-kelch_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90293 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90293 ENTREZGENE
OMIM 300655 OMIM
Pfam BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134959204 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG80_HUMAN UniProtKB/TrEMBL
  A0A0C4DG99 ENTREZGENE
  B7ZB44 ENTREZGENE, UniProtKB/TrEMBL
  C9JTS9_HUMAN UniProtKB/TrEMBL
  KLH13_HUMAN UniProtKB/Swiss-Prot
  Q96HC9 ENTREZGENE, UniProtKB/TrEMBL
  Q9P2N7 ENTREZGENE
UniProt Secondary B3KV78 UniProtKB/Swiss-Prot
  B3KWM7 UniProtKB/Swiss-Prot
  B7Z3S9 UniProtKB/Swiss-Prot
  B7Z5P2 UniProtKB/Swiss-Prot
  B7Z802 UniProtKB/Swiss-Prot
  D3DWH6 UniProtKB/Swiss-Prot
  Q6P2E3 UniProtKB/Swiss-Prot
  Q96QI7 UniProtKB/Swiss-Prot
  Q9UDN9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 KLHL13  kelch like family member 13    kelch-like family member 13  Symbol and/or name change 5135510 APPROVED
2013-02-06 KLHL13  kelch-like family member 13    kelch-like 13 (Drosophila)  Symbol and/or name change 5135510 APPROVED