SEPTIN6 (septin 6) - Rat Genome Database
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Gene: SEPTIN6 (septin 6) Homo sapiens
Analyze
Symbol: SEPTIN6
Name: septin 6
RGD ID: 1316585
HGNC Page HGNC
Description: Predicted to have GTPase activity and molecular adaptor activity. Predicted to be involved in cellular protein localization; cilium assembly; and cytoskeleton-dependent cytokinesis. Localizes to septin complex and sperm annulus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0128; MGC16619; MGC20339; RP5-876A24.2; SEP2; SEPT2; SEPT6; septin 2; septin-6
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 EnsemblX119,615,724 - 119,693,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38X119,615,724 - 119,693,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,749,687 - 118,827,131 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,633,715 - 118,711,361 (-)NCBINCBI36hg18NCBI36
Build 34X118,531,571 - 118,609,215NCBI
CeleraX119,204,389 - 119,281,983 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,243,227 - 108,320,808 (-)NCBIHuRef
CHM1_1X118,661,311 - 118,738,951 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8590280   PMID:11064363   PMID:11584266   PMID:11809673   PMID:12096348   PMID:12388755   PMID:12446710   PMID:12477932   PMID:12544826   PMID:12665801   PMID:14531065   PMID:15489334  
PMID:15772651   PMID:16189514   PMID:16843108   PMID:16914550   PMID:17110338   PMID:17207965   PMID:17229681   PMID:17353931   PMID:17637674   PMID:17803907   PMID:18029348   PMID:18047794  
PMID:18330356   PMID:19145258   PMID:19531213   PMID:21082023   PMID:21516116   PMID:21788367   PMID:21873635   PMID:21900206   PMID:23455924   PMID:23535732   PMID:24633326   PMID:24722188  
PMID:25380047   PMID:25416956   PMID:25472714   PMID:25519054   PMID:25588830   PMID:25775403   PMID:25814554   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26496610   PMID:26598620  
PMID:26673895   PMID:26871637   PMID:27107014   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29051266   PMID:29053956   PMID:29507755   PMID:29568061   PMID:29943706   PMID:30021884  
PMID:30110629   PMID:30315255   PMID:30442766   PMID:30575818   PMID:31343991   PMID:31515488   PMID:31586073   PMID:31865373   PMID:32296183   PMID:32814053   PMID:32910969  


Genomics

Comparative Map Data
SEPTIN6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX119,615,724 - 119,693,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38X119,615,724 - 119,693,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,749,687 - 118,827,131 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,633,715 - 118,711,361 (-)NCBINCBI36hg18NCBI36
Build 34X118,531,571 - 118,609,215NCBI
CeleraX119,204,389 - 119,281,983 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,243,227 - 108,320,808 (-)NCBIHuRef
CHM1_1X118,661,311 - 118,738,951 (-)NCBICHM1_1
Septin6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X36,174,925 - 36,253,711 (-)NCBIGRCm39mm39
GRCm39 EnsemblX36,174,979 - 36,255,447 (-)Ensembl
GRCm38X36,911,272 - 36,990,036 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX36,911,326 - 36,991,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X34,451,267 - 34,529,690 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X33,343,690 - 33,420,902 (-)NCBImm8
CeleraX23,634,917 - 23,713,330 (-)NCBICelera
Cytogenetic MapXA3.3NCBI
Septin6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X116,153,255 - 116,230,334 (-)NCBI
Rnor_6.0 EnsemblX123,524,950 - 123,662,350 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X123,524,954 - 123,601,214 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X123,669,895 - 123,746,145 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X7,871,020 - 7,949,967 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX115,386,688 - 115,458,210 (-)NCBICelera
Cytogenetic MapXq35NCBI
Septin6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955534305,865 - 382,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955534306,691 - 381,799 (+)NCBIChiLan1.0ChiLan1.0
SEPTIN6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X119,074,291 - 119,152,830 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,074,291 - 119,152,830 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X108,648,294 - 108,726,196 (-)NCBIMhudiblu_PPA_v0panPan3
SEPTIN6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X91,647,293 - 91,714,379 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX91,647,969 - 91,714,164 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX77,722,082 - 77,789,109 (-)NCBI
ROS_Cfam_1.0X93,386,421 - 93,453,554 (-)NCBI
UMICH_Zoey_3.1X90,839,093 - 90,906,188 (-)NCBI
UNSW_CanFamBas_1.0X92,597,841 - 92,664,953 (-)NCBI
UU_Cfam_GSD_1.0X92,327,013 - 92,394,128 (-)NCBI
Septin6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X90,682,172 - 90,754,460 (-)NCBI
SpeTri2.0NW_00493647910,233,035 - 10,305,327 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,031,890 - 98,161,607 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,033,212 - 98,106,082 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,558,623 - 113,631,613 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN6
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Septin6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248953,583,198 - 3,649,478 (-)NCBI

Position Markers
DXS7626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,801,020 - 118,801,079UniSTSGRCh37
Build 36X118,685,048 - 118,685,107RGDNCBI36
CeleraX119,255,676 - 119,255,735RGD
Cytogenetic MapXq24UniSTS
HuRefX108,294,617 - 108,294,676UniSTS
SHGC-37555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,750,934 - 118,751,034UniSTSGRCh37
Build 36X118,634,962 - 118,635,062RGDNCBI36
CeleraX119,205,636 - 119,205,736RGD
Cytogenetic MapXq24UniSTS
Cytogenetic Map16p13.3UniSTS
HuRefX108,244,474 - 108,244,574UniSTS
Stanford-G3 RH MapX3546.0UniSTS
NCBI RH MapX586.7UniSTS
GeneMap99-G3 RH MapX3571.0UniSTS
RH12106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,753,367 - 118,753,486UniSTSGRCh37
Build 36X118,637,395 - 118,637,514RGDNCBI36
CeleraX119,208,051 - 119,208,170RGD
Cytogenetic MapXq24UniSTS
HuRefX108,246,889 - 108,247,008UniSTS
GeneMap99-GB4 RH MapX298.09UniSTS
RH25351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,751,276 - 118,751,469UniSTSGRCh37
Build 36X118,635,304 - 118,635,497RGDNCBI36
CeleraX119,205,960 - 119,206,153RGD
Cytogenetic MapXq24UniSTS
HuRefX108,244,798 - 108,244,991UniSTS
RH102135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,749,893 - 118,750,026UniSTSGRCh37
Build 36X118,633,921 - 118,634,054RGDNCBI36
CeleraX119,204,595 - 119,204,728RGD
Cytogenetic MapXq24UniSTS
HuRefX108,243,433 - 108,243,566UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
RH18205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,756,141 - 118,756,260UniSTSGRCh37
Build 36X118,640,169 - 118,640,288RGDNCBI36
CeleraX119,210,824 - 119,210,943RGD
Cytogenetic MapXq24UniSTS
HuRefX108,249,284 - 108,249,403UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8024
Count of miRNA genes:1502
Interacting mature miRNAs:2054
Transcripts:ENST00000343984, ENST00000354228, ENST00000354416, ENST00000360156, ENST00000394610, ENST00000394616, ENST00000394617, ENST00000460411, ENST00000467310, ENST00000481072, ENST00000489216
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 pharyngeal arch
High
Medium 2044 1594 961 278 1854 175 1691 898 1825 252 1116 1018 106 589 1041 3
Low 383 1394 764 345 97 289 2652 1283 1899 167 341 591 66 1 615 1734 2 2
Below cutoff 8 1 1 1 13 14 6 2 2 2 13

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF397023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF403062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY005981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY034177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY679521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343984   ⟹   ENSP00000341524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,617,639 - 119,693,370 (-)Ensembl
RefSeq Acc Id: ENST00000354228   ⟹   ENSP00000346169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,616,712 - 119,693,370 (-)Ensembl
RefSeq Acc Id: ENST00000354416   ⟹   ENSP00000346397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,616,945 - 119,693,370 (-)Ensembl
RefSeq Acc Id: ENST00000360156   ⟹   ENSP00000353278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,615,724 - 119,693,370 (-)Ensembl
RefSeq Acc Id: ENST00000394610   ⟹   ENSP00000378108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,619,858 - 119,693,225 (-)Ensembl
RefSeq Acc Id: ENST00000460411   ⟹   ENSP00000435818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,616,712 - 119,693,370 (-)Ensembl
RefSeq Acc Id: ENST00000467310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,619,309 - 119,633,424 (-)Ensembl
RefSeq Acc Id: ENST00000481072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,628,816 - 119,633,502 (-)Ensembl
RefSeq Acc Id: ENST00000489216   ⟹   ENSP00000418715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,616,716 - 119,693,370 (-)Ensembl
RefSeq Acc Id: NM_015129   ⟹   NP_055944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,616,945 - 119,693,168 (-)NCBI
GRCh37X118,749,687 - 118,827,333 (-)ENTREZGENE
Build 36X118,634,936 - 118,711,361 (-)NCBI Archive
HuRefX108,243,227 - 108,320,808 (-)ENTREZGENE
CHM1_1X118,662,532 - 118,738,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145799   ⟹   NP_665798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,616,945 - 119,693,168 (-)NCBI
GRCh37X118,749,687 - 118,827,333 (-)ENTREZGENE
Build 36X118,634,936 - 118,711,361 (-)NCBI Archive
HuRefX108,243,227 - 108,320,808 (-)ENTREZGENE
CHM1_1X118,662,532 - 118,738,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145800   ⟹   NP_665799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,168 (-)NCBI
GRCh37X118,749,687 - 118,827,333 (-)ENTREZGENE
Build 36X118,633,715 - 118,711,361 (-)NCBI Archive
HuRefX108,243,227 - 108,320,808 (-)ENTREZGENE
CHM1_1X118,661,311 - 118,738,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145802   ⟹   NP_665801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,168 (-)NCBI
GRCh37X118,749,687 - 118,827,333 (-)ENTREZGENE
Build 36X118,633,715 - 118,711,361 (-)NCBI Archive
HuRefX108,243,227 - 108,320,808 (-)ENTREZGENE
CHM1_1X118,661,311 - 118,738,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262400   ⟹   XP_005262457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
GRCh37X118,749,687 - 118,827,333 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724748   ⟹   XP_006724811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724750   ⟹   XP_006724813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531317   ⟹   XP_011529619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531318   ⟹   XP_011529620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755675
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,728 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755676
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755677
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,615,724 - 119,693,196 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055944 (Get FASTA)   NCBI Sequence Viewer  
  NP_665798 (Get FASTA)   NCBI Sequence Viewer  
  NP_665799 (Get FASTA)   NCBI Sequence Viewer  
  NP_665801 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262457 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724811 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724813 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529619 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529620 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF97496 (Get FASTA)   NCBI Sequence Viewer  
  AAH09291 (Get FASTA)   NCBI Sequence Viewer  
  AAH11922 (Get FASTA)   NCBI Sequence Viewer  
  AAH36240 (Get FASTA)   NCBI Sequence Viewer  
  AAH69231 (Get FASTA)   NCBI Sequence Viewer  
  AAK61492 (Get FASTA)   NCBI Sequence Viewer  
  AAK98547 (Get FASTA)   NCBI Sequence Viewer  
  AAK98548 (Get FASTA)   NCBI Sequence Viewer  
  AAK98549 (Get FASTA)   NCBI Sequence Viewer  
  AAK98550 (Get FASTA)   NCBI Sequence Viewer  
  AAK98551 (Get FASTA)   NCBI Sequence Viewer  
  AAN76547 (Get FASTA)   NCBI Sequence Viewer  
  AAT80339 (Get FASTA)   NCBI Sequence Viewer  
  BAA09477 (Get FASTA)   NCBI Sequence Viewer  
  BAF83666 (Get FASTA)   NCBI Sequence Viewer  
  BAG60696 (Get FASTA)   NCBI Sequence Viewer  
  BAG61293 (Get FASTA)   NCBI Sequence Viewer  
  BAG64222 (Get FASTA)   NCBI Sequence Viewer  
  BAG64311 (Get FASTA)   NCBI Sequence Viewer  
  EAW89851 (Get FASTA)   NCBI Sequence Viewer  
  EAW89852 (Get FASTA)   NCBI Sequence Viewer  
  EAW89853 (Get FASTA)   NCBI Sequence Viewer  
  EAW89854 (Get FASTA)   NCBI Sequence Viewer  
  EAW89855 (Get FASTA)   NCBI Sequence Viewer  
  EAW89856 (Get FASTA)   NCBI Sequence Viewer  
  EAW89857 (Get FASTA)   NCBI Sequence Viewer  
  EAW89858 (Get FASTA)   NCBI Sequence Viewer  
  Q14141 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_665801   ⟸   NM_145802
- Peptide Label: isoform D
- UniProtKB: Q14141 (UniProtKB/Swiss-Prot),   Q548C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_665799   ⟸   NM_145800
- Peptide Label: isoform A
- UniProtKB: Q14141 (UniProtKB/Swiss-Prot),   Q541S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055944   ⟸   NM_015129
- Peptide Label: isoform B
- UniProtKB: Q14141 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_665798   ⟸   NM_145799
- Peptide Label: isoform A
- UniProtKB: Q14141 (UniProtKB/Swiss-Prot),   Q541S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262457   ⟸   XM_005262400
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724813   ⟸   XM_006724750
- Peptide Label: isoform X5
- UniProtKB: Q14141 (UniProtKB/Swiss-Prot),   Q541S4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724811   ⟸   XM_006724748
- Peptide Label: isoform X4
- UniProtKB: B1AMS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529619   ⟸   XM_011531317
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529620   ⟸   XM_011531318
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000353278   ⟸   ENST00000360156
RefSeq Acc Id: ENSP00000346169   ⟸   ENST00000354228
RefSeq Acc Id: ENSP00000346397   ⟸   ENST00000354416
RefSeq Acc Id: ENSP00000378108   ⟸   ENST00000394610
RefSeq Acc Id: ENSP00000435818   ⟸   ENST00000460411
RefSeq Acc Id: ENSP00000341524   ⟸   ENST00000343984
RefSeq Acc Id: ENSP00000418715   ⟸   ENST00000489216
Protein Domains
Septin-type G

Promoters
RGD ID:6809250
Promoter ID:HG_KWN:67890
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000058065,   OTTHUMT00000058066
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,651,496 - 118,651,996 (-)MPROMDB
RGD ID:6809251
Promoter ID:HG_KWN:67891
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC004ERW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,693,201 - 118,693,877 (-)MPROMDB
RGD ID:6809269
Promoter ID:HG_KWN:67892
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000343984,   ENST00000354416,   ENST00000360156,   ENST00000371478,   ENST00000371493,   ENST00000394612,   ENST00000394617,   NM_145802,   UC010NQK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,711,011 - 118,712,052 (-)MPROMDB
RGD ID:6851926
Promoter ID:EP73769
Type:initiation region
Name:HS_SEPT6
Description:Septin 6 , transcript variant II.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,711,159 - 118,711,219EPD
RGD ID:13627960
Promoter ID:EPDNEW_H29254
Type:initiation region
Name:SEPT6_1
Description:septin 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29255  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,693,159 - 119,693,219EPDNEW
RGD ID:13627958
Promoter ID:EPDNEW_H29255
Type:initiation region
Name:SEPT6_2
Description:septin 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29254  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,693,396 - 119,693,456EPDNEW

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 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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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
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 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 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 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 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 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 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 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: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 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 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 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 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 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 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 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 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 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 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-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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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 Xq24(chrX:118601218-118855714)x0 copy number loss See cases [RCV000510978] ChrX:118601218..118855714 [GRCh37]
ChrX:Xq24
uncertain significance
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 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 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24(chrX:118749182-119039684)x3 copy number gain not provided [RCV000684379] ChrX:118749182..119039684 [GRCh37]
ChrX:Xq24
uncertain significance
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 Xq24(chrX:118053103-119334499)x2 copy number gain not provided [RCV000753733] ChrX:118053103..119334499 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
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 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:15848 AgrOrtholog
COSMIC SEPTIN6 COSMIC
Ensembl Genes ENSG00000125354 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346169 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346397 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000353278 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418715 UniProtKB/Swiss-Prot
  ENSP00000435818 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000343984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354416 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000360156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394610 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460411 UniProtKB/Swiss-Prot
  ENST00000489216 UniProtKB/Swiss-Prot
GTEx ENSG00000125354 GTEx
HGNC ID HGNC:15848 ENTREZGENE
Human Proteome Map SEPTIN6 Human Proteome Map
InterPro G_SEPTIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEPT6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23157 UniProtKB/Swiss-Prot
NCBI Gene 23157 ENTREZGENE
OMIM 300683 OMIM
PANTHER PTHR18884:SF55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134941944 PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AMS2 ENTREZGENE, UniProtKB/TrEMBL
  Q14141 ENTREZGENE
  Q541S4 ENTREZGENE, UniProtKB/TrEMBL
  Q548C9 ENTREZGENE, UniProtKB/TrEMBL
  SEPT6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5JTK0 UniProtKB/Swiss-Prot
  Q969W5 UniProtKB/Swiss-Prot
  Q96A13 UniProtKB/Swiss-Prot
  Q96GR1 UniProtKB/Swiss-Prot
  Q96P86 UniProtKB/Swiss-Prot
  Q96P87 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN6  septin 6  SEPT6    Symbol and/or name change 5135510 APPROVED
2011-08-17 SEPT6  septin 6  SEPT6  septin 6  Symbol and/or name change 5135510 APPROVED