KLF8 (Kruppel like factor 8) - Rat Genome Database

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Gene: KLF8 (Kruppel like factor 8) Homo sapiens
Analyze
Symbol: KLF8
Name: Kruppel like factor 8
RGD ID: 1348117
HGNC Page HGNC
Description: Exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Localizes to aggresome; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic krueppel-like factor 3; basic kruppel-like factor 3; BKLF3; DKFZp686O08126; Krueppel-like factor 8; Kruppel-like factor 8; MGC138314; zinc finger protein 741; ZNF741
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KLF8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX56,232,356 - 56,291,531 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,908,123 - 56,291,531 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,934,556 - 56,317,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,275,632 - 56,328,255 (+)NCBINCBI36hg18NCBI36
Build 34X56,142,352 - 56,194,675NCBI
CeleraX60,097,322 - 60,152,463 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX53,312,220 - 53,367,441 (+)NCBIHuRef
CHM1_1X55,924,532 - 56,308,119 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
aggresome  (IDA)
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10756197   PMID:11836360   PMID:12477932   PMID:12556451   PMID:12820964   PMID:14702039   PMID:15489334   PMID:15772651   PMID:15820306   PMID:15937668   PMID:16023392   PMID:16344560  
PMID:16617055   PMID:16832343   PMID:17224162   PMID:17671186   PMID:18353772   PMID:19274049   PMID:20107328   PMID:20182889   PMID:20728449   PMID:21151179   PMID:21416054   PMID:21518760  
PMID:21832049   PMID:21873635   PMID:22276196   PMID:22761862   PMID:22766838   PMID:23023312   PMID:23105099   PMID:23134681   PMID:23222713   PMID:23504025   PMID:23703536   PMID:23720494  
PMID:23812425   PMID:23885141   PMID:23918943   PMID:24096480   PMID:24461703   PMID:24604387   PMID:25040744   PMID:25323066   PMID:25333643   PMID:25652467   PMID:26025929   PMID:26133391  
PMID:26235874   PMID:26320172   PMID:26496610   PMID:26993780   PMID:26995652   PMID:28611215   PMID:28842254   PMID:28986741   PMID:30232004   PMID:30479372   PMID:30528231   PMID:30972179  
PMID:31124603   PMID:31364106   PMID:32122144   PMID:32411796   PMID:32768951  


Genomics

Comparative Map Data
KLF8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX56,232,356 - 56,291,531 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,908,123 - 56,291,531 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,934,556 - 56,317,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X56,275,632 - 56,328,255 (+)NCBINCBI36hg18NCBI36
Build 34X56,142,352 - 56,194,675NCBI
CeleraX60,097,322 - 60,152,463 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX53,312,220 - 53,367,441 (+)NCBIHuRef
CHM1_1X55,924,532 - 56,308,119 (+)NCBICHM1_1
Klf8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X152,008,335 - 152,181,921 (+)NCBIGRCm39mm39
GRCm39 EnsemblX152,020,462 - 152,179,128 (+)Ensembl
GRCm38X153,225,339 - 153,398,925 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX153,237,466 - 153,396,132 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X149,672,588 - 149,830,677 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X148,578,761 - 148,736,850 (+)NCBImm8
CeleraX135,858,986 - 136,016,879 (-)NCBICelera
Cytogenetic MapXF3NCBI
Klf8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X17,950,045 - 18,132,980 (-)NCBI
Rnor_6.0 EnsemblX18,835,827 - 18,890,090 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X18,836,902 - 19,032,012 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X19,600,500 - 19,653,408 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X38,099,447 - 38,144,381 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX18,230,187 - 18,407,760 (-)NCBICelera
Cytogenetic MapXq12NCBI
Klf8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,938,043 - 2,999,317 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,938,071 - 2,998,435 (+)NCBIChiLan1.0ChiLan1.0
KLF8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X56,665,314 - 56,724,361 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX56,665,341 - 56,717,935 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X48,513,317 - 48,572,776 (+)NCBIMhudiblu_PPA_v0panPan3
KLF8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X47,662,824 - 47,758,628 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX47,662,253 - 47,755,578 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX38,611,227 - 38,952,217 (+)NCBI
ROS_Cfam_1.0X50,313,600 - 50,345,251 (-)NCBI
UMICH_Zoey_3.1X46,910,859 - 47,251,921 (+)NCBI
UNSW_CanFamBas_1.0X47,649,242 - 47,990,202 (+)NCBI
UU_Cfam_GSD_1.0X47,815,804 - 47,911,914 (+)NCBI
Klf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X40,170,737 - 40,404,161 (+)NCBI
SpeTri2.0NW_004936819633,562 - 673,365 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLF8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX48,663,361 - 48,748,553 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X48,663,063 - 48,752,359 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X54,906,628 - 54,926,665 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2X54,995,349 - 55,047,906 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLF8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X52,201,681 - 52,246,528 (+)NCBI
ChlSab1.1 EnsemblX52,200,982 - 52,245,918 (+)Ensembl
Klf8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624910872,263 - 1,234,631 (+)NCBI

Position Markers
DXS741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,258,877 - 56,260,189UniSTSGRCh37
GRCh37X56,258,540 - 56,258,649UniSTSGRCh37
GRCh37X56,259,998 - 56,260,139UniSTSGRCh37
GRCh37X56,256,930 - 56,257,103UniSTSGRCh37
Build 36X56,273,655 - 56,273,828RGDNCBI36
CeleraX60,095,430 - 60,095,603RGD
CeleraX60,097,040 - 60,097,149UniSTS
CeleraX60,097,377 - 60,098,689UniSTS
CeleraX60,098,498 - 60,098,639UniSTS
Cytogenetic MapXp11.21UniSTS
HuRefX53,310,495 - 53,310,668UniSTS
HuRefX53,313,396 - 53,313,537UniSTS
HuRefX53,312,275 - 53,313,587UniSTS
HuRefX53,311,938 - 53,312,047UniSTS
STS-H42415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,314,102 - 56,314,263UniSTSGRCh37
Build 36X56,330,827 - 56,330,988RGDNCBI36
CeleraX60,152,243 - 60,152,404RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,367,221 - 53,367,382UniSTS
GeneMap99-GB4 RH MapX190.03UniSTS
WI-18614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,311,384 - 56,311,508UniSTSGRCh37
Build 36X56,328,109 - 56,328,233RGDNCBI36
CeleraX60,149,476 - 60,149,600RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,364,503 - 53,364,627UniSTS
GeneMap99-GB4 RH MapX191.41UniSTS
Whitehead-RH MapX109.0UniSTS
SHGC-62967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,292,563 - 56,292,819UniSTSGRCh37
Build 36X56,309,288 - 56,309,544RGDNCBI36
CeleraX60,131,065 - 60,131,321RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,345,647 - 53,345,903UniSTS
SHGC-68451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,292,549 - 56,292,770UniSTSGRCh37
Build 36X56,309,274 - 56,309,495RGDNCBI36
CeleraX60,131,051 - 60,131,272RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,345,633 - 53,345,854UniSTS
TNG Radiation Hybrid Map914084.0UniSTS
NIB723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X56,311,246 - 56,311,497UniSTSGRCh37
Build 36X56,327,971 - 56,328,222RGDNCBI36
CeleraX60,149,338 - 60,149,589RGD
Cytogenetic MapXp11.21UniSTS
HuRefX53,364,365 - 53,364,616UniSTS
GeneMap99-GB4 RH MapX180.09UniSTS
Whitehead-RH MapX108.8UniSTS
Whitehead-YAC Contig MapX UniSTS
D20S994  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.31UniSTS
Cytogenetic MapXp11.21UniSTS
Cytogenetic Map16q22.1UniSTS
D21S1698  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q24UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXp11.21UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q26.13UniSTS
DXS741  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.21UniSTS
DXS741  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.21UniSTS
DXS741  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2271
Count of miRNA genes:1058
Interacting mature miRNAs:1287
Transcripts:ENST00000358094, ENST00000374928, ENST00000462627, ENST00000468660, ENST00000476898
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1026 1202 448 81 201 1 3126 690 568 65 645 735 81 1048 1883 3
Low 1297 1376 1011 290 1227 208 1150 1453 2765 325 745 747 88 1 156 903 1 2
Below cutoff 100 409 254 243 494 246 61 41 383 27 58 103 5 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX322609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA874419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF546207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF546208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF546209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358094   ⟹   ENSP00000431911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,233,189 - 56,285,097 (+)Ensembl
RefSeq Acc Id: ENST00000374928   ⟹   ENSP00000364063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,232,437 - 56,287,889 (+)Ensembl
RefSeq Acc Id: ENST00000462627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,232,474 - 56,287,884 (+)Ensembl
RefSeq Acc Id: ENST00000468660   ⟹   ENSP00000417303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,232,356 - 56,291,531 (+)Ensembl
RefSeq Acc Id: ENST00000476898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,232,421 - 56,269,208 (+)Ensembl
RefSeq Acc Id: ENST00000640927   ⟹   ENSP00000492126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX56,233,212 - 56,284,655 (+)Ensembl
RefSeq Acc Id: NM_001159296   ⟹   NP_001152768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,531 (+)NCBI
GRCh37X56,258,814 - 56,314,322 (+)NCBI
HuRefX53,312,220 - 53,367,441 (+)ENTREZGENE
CHM1_1X56,248,934 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324099   ⟹   NP_001311028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,233,158 - 56,291,531 (+)NCBI
CHM1_1X56,249,736 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324100   ⟹   NP_001311029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,233,158 - 56,291,531 (+)NCBI
CHM1_1X56,249,736 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324102   ⟹   NP_001311031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,531 (+)NCBI
CHM1_1X56,248,934 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324104   ⟹   NP_001311033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,908,285 - 56,291,531 (+)NCBI
CHM1_1X55,924,694 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324105   ⟹   NP_001311034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,908,123 - 56,291,531 (+)NCBI
CHM1_1X55,924,532 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007250   ⟹   NP_009181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,531 (+)NCBI
GRCh37X56,258,814 - 56,314,322 (+)NCBI
Build 36X56,275,632 - 56,328,255 (+)NCBI Archive
HuRefX53,312,220 - 53,367,441 (+)ENTREZGENE
CHM1_1X56,248,934 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136704
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,233,158 - 56,291,531 (+)NCBI
CHM1_1X56,249,736 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136705
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,531 (+)NCBI
CHM1_1X56,248,934 - 56,308,119 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261977   ⟹   XP_005262034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,389 - 56,291,527 (+)NCBI
GRCh37X56,258,814 - 56,314,322 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724575   ⟹   XP_006724638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,527 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530759   ⟹   XP_011529061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,291,527 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029250   ⟹   XP_016884739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,389 - 56,291,527 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452332   ⟹   XP_024308100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,356 - 56,269,399 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009181   ⟸   NM_007250
- Peptide Label: isoform 1
- UniProtKB: O95600 (UniProtKB/Swiss-Prot),   A0A024R9X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001152768   ⟸   NM_001159296
- Peptide Label: isoform 2
- UniProtKB: O95600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262034   ⟸   XM_005261977
- Peptide Label: isoform X1
- UniProtKB: O95600 (UniProtKB/Swiss-Prot),   A0A024R9X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724638   ⟸   XM_006724575
- Peptide Label: isoform X3
- UniProtKB: O95600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529061   ⟸   XM_011530759
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001311034   ⟸   NM_001324105
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001311033   ⟸   NM_001324104
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001311031   ⟸   NM_001324102
- Peptide Label: isoform 1
- UniProtKB: O95600 (UniProtKB/Swiss-Prot),   A0A024R9X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311029   ⟸   NM_001324100
- Peptide Label: isoform 4
- UniProtKB: O95600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311028   ⟸   NM_001324099
- Peptide Label: isoform 3
- UniProtKB: O95600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884739   ⟸   XM_017029250
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308100   ⟸   XM_024452332
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000364063   ⟸   ENST00000374928
RefSeq Acc Id: ENSP00000417303   ⟸   ENST00000468660
RefSeq Acc Id: ENSP00000492126   ⟸   ENST00000640927
RefSeq Acc Id: ENSP00000431911   ⟸   ENST00000358094
Protein Domains
C2H2-type

Promoters
RGD ID:13605456
Promoter ID:EPDNEW_H28910
Type:initiation region
Name:KLF8_3
Description:Kruppel like factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28911  EPDNEW_H28912  EPDNEW_H28913  EPDNEW_H28914  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,908,442 - 55,908,502EPDNEW
RGD ID:13605458
Promoter ID:EPDNEW_H28911
Type:initiation region
Name:KLF8_4
Description:Kruppel like factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28910  EPDNEW_H28912  EPDNEW_H28913  EPDNEW_H28914  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,908,742 - 55,908,802EPDNEW
RGD ID:13605460
Promoter ID:EPDNEW_H28912
Type:initiation region
Name:KLF8_2
Description:Kruppel like factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28910  EPDNEW_H28911  EPDNEW_H28913  EPDNEW_H28914  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,107,419 - 56,107,479EPDNEW
RGD ID:13605462
Promoter ID:EPDNEW_H28913
Type:initiation region
Name:KLF8_1
Description:Kruppel like factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28910  EPDNEW_H28911  EPDNEW_H28912  EPDNEW_H28914  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,232,474 - 56,232,534EPDNEW
RGD ID:13605464
Promoter ID:EPDNEW_H28914
Type:initiation region
Name:KLF8_5
Description:Kruppel like factor 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28910  EPDNEW_H28911  EPDNEW_H28912  EPDNEW_H28913  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X56,233,194 - 56,233,254EPDNEW
RGD ID:6808981
Promoter ID:HG_KWN:67010
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000374928,   NM_001159296,   NM_007250,   OTTHUMT00000314044,   UC010NKG.1,   UC010NKH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X56,275,621 - 56,276,432 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.21-q11.2(chrX:55895084-65038751)x2 copy number gain See cases [RCV000052414] ChrX:55895084..65038751 [GRCh38]
ChrX:55921517..64258631 [GRCh37]
ChrX:55938242..64175356 [NCBI36]
ChrX:Xp11.21-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX: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 Xp22.33-11.1(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-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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-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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 copy number gain See cases [RCV000137371] ChrX:56127875..63867853 [GRCh38]
ChrX:56154308..63087733 [GRCh37]
ChrX:56171033..63004458 [NCBI36]
ChrX:Xp11.21-q11.2
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 Xp11.21(chrX:56280137-56368986)x3 copy number gain See cases [RCV000137217] ChrX:56280137..56368986 [GRCh38]
ChrX:56306570..56395419 [GRCh37]
ChrX:56323295..56412144 [NCBI36]
ChrX:Xp11.21
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.21(chrX:56041093-57333244)x2 copy number gain See cases [RCV000141695] ChrX:56041093..57333244 [GRCh38]
ChrX:56067526..57359677 [GRCh37]
ChrX:56084251..57376402 [NCBI36]
ChrX:Xp11.21
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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-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
NM_007250.5(KLF8):c.322A>G (p.Ile108Val) single nucleotide variant not provided [RCV000954328]|not specified [RCV000194107] ChrX:56265420 [GRCh38]
ChrX:56291853 [GRCh37]
ChrX:Xp11.21
benign|conflicting interpretations of pathogenicity|uncertain significance
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
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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: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-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: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 Xp22.33-11.21(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: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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 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(chrX:56301687-56431164)x3 copy number gain not provided [RCV000509347] ChrX:56301687..56431164 [GRCh37]
ChrX:Xp11.21
not provided
NM_007250.5(KLF8):c.646+3A>G single nucleotide variant not provided [RCV000509430] ChrX:56265747 [GRCh38]
ChrX:56292180 [GRCh37]
ChrX:Xp11.21
not provided
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_007250.5(KLF8):c.462G>A (p.Gln154=) single nucleotide variant not specified [RCV000500102] ChrX:56265560 [GRCh38]
ChrX:56291993 [GRCh37]
ChrX:Xp11.21
likely benign
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:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
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 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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.21(chrX:55820477-56303563)x2 copy number gain not provided [RCV000753544] ChrX:55820477..56303563 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp11.21(chrX:55861414-56474134)x4 copy number gain not provided [RCV000753545] ChrX:55861414..56474134 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 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)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_007250.5(KLF8):c.646+5G>A single nucleotide variant not provided [RCV000882080] ChrX:56265749 [GRCh38]
ChrX:56292182 [GRCh37]
ChrX:Xp11.21
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 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)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007250.5(KLF8):c.225G>T (p.Leu75Phe) single nucleotide variant not provided [RCV000968805] ChrX:56265323 [GRCh38]
ChrX:56291756 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_007250.5(KLF8):c.657C>T (p.Asp219=) single nucleotide variant not provided [RCV000909914] ChrX:56269388 [GRCh38]
ChrX:56295821 [GRCh37]
ChrX:Xp11.21
likely benign
NM_007250.5(KLF8):c.432C>T (p.Val144=) single nucleotide variant not provided [RCV000913481] ChrX:56265530 [GRCh38]
ChrX:56291963 [GRCh37]
ChrX:Xp11.21
likely benign
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 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6351 AgrOrtholog
COSMIC KLF8 COSMIC
Ensembl Genes ENSG00000102349 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000364063 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417303 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431911 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492126 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358094 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000374928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000468660 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640927 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000102349 GTEx
HGNC ID HGNC:6351 ENTREZGENE
Human Proteome Map KLF8 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11279 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11279 ENTREZGENE
OMIM 300286 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30141 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9X4 ENTREZGENE, UniProtKB/TrEMBL
  KLF8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05BZ3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DJN3 UniProtKB/Swiss-Prot
  E7EQQ8 UniProtKB/Swiss-Prot
  L0R3U8 UniProtKB/Swiss-Prot
  L0R4U2 UniProtKB/Swiss-Prot
  Q2M246 UniProtKB/Swiss-Prot
  Q59GV5 UniProtKB/Swiss-Prot
  Q5HYQ5 UniProtKB/Swiss-Prot
  Q5JXP7 UniProtKB/Swiss-Prot
  Q6MZJ7 UniProtKB/Swiss-Prot
  Q9UGC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 KLF8  Kruppel like factor 8    Kruppel-like factor 8  Symbol and/or name change 5135510 APPROVED
2011-08-17 KLF8  Kruppel-like factor 8  KLF8  Kruppel-like factor 8  Symbol and/or name change 5135510 APPROVED