SEPTIN9 (septin 9) - Rat Genome Database
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Gene: SEPTIN9 (septin 9) Homo sapiens
Analyze
Symbol: SEPTIN9
Name: septin 9
RGD ID: 1349459
HGNC Page HGNC
Description: Exhibits cadherin binding activity. Involved in positive regulation of non-motile cilium assembly. Localizes to cytoskeleton; non-motile cilium; and perinuclear region of cytoplasm. Implicated in brachial plexus neuritis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AF17q25; FLJ75490; KIAA0991; MLL septin-like fusion protein MSF-A; MSF; MSF1; NAPB; Ov/Br septin; ovarian/breast septin; PNUTL4; SEPT9; SeptD1; septin D1; septin-9; SINT1
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 Ensembl1777,280,569 - 77,500,596 (+)EnsemblGRCh38hg38GRCh38
GRCh381777,281,499 - 77,500,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371775,277,581 - 75,496,678 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371775,277,492 - 75,496,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361772,827,197 - 73,008,273 (+)NCBINCBI36hg18NCBI36
Build 341772,827,743 - 73,008,269NCBI
Celera1771,879,127 - 72,091,668 (+)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1770,710,975 - 70,904,981 (+)NCBIHuRef
HuRef1770,908,680 - 70,922,066 (+)NCBIHuRef
CHM1_11775,342,249 - 75,561,442 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9439655   PMID:10231032   PMID:10339604   PMID:10485469   PMID:10673328   PMID:10673329   PMID:10987277   PMID:11593400   PMID:12095151   PMID:12388755   PMID:12477932   PMID:12626509  
PMID:14648661   PMID:14702039   PMID:15146197   PMID:15231747   PMID:15302935   PMID:15485874   PMID:15489334   PMID:15782116   PMID:16007136   PMID:16159877   PMID:16161048   PMID:16169070  
PMID:16344560   PMID:16424018   PMID:16964243   PMID:17081983   PMID:17110338   PMID:17468182   PMID:17546647   PMID:17922164   PMID:18029348   PMID:18075300   PMID:18492087   PMID:18525421  
PMID:18642054   PMID:19018278   PMID:19071215   PMID:19139049   PMID:19145258   PMID:19204161   PMID:19251694   PMID:19406918   PMID:19451530   PMID:19531213   PMID:19738201   PMID:19851296  
PMID:19939853   PMID:19953087   PMID:20019224   PMID:20029986   PMID:20098747   PMID:20113838   PMID:20140221   PMID:20198315   PMID:20301569   PMID:20407014   PMID:20467437   PMID:20562859  
PMID:20682395   PMID:20966902   PMID:21059847   PMID:21267688   PMID:21516116   PMID:21737677   PMID:21767235   PMID:21831286   PMID:21832049   PMID:21873635   PMID:22123865   PMID:22278362  
PMID:22337587   PMID:22632162   PMID:22837378   PMID:22939629   PMID:22956766   PMID:22981636   PMID:23049919   PMID:23118862   PMID:23443559   PMID:23572511   PMID:23862763   PMID:23942779  
PMID:23977378   PMID:23988185   PMID:23990466   PMID:24067372   PMID:24127542   PMID:24344182   PMID:24386354   PMID:24457600   PMID:24535900   PMID:24633736   PMID:24711643   PMID:25293760  
PMID:25416956   PMID:25458010   PMID:25468996   PMID:25472714   PMID:25526039   PMID:25640309   PMID:25898316   PMID:25921289   PMID:25946211   PMID:26186194   PMID:26209609   PMID:26344197  
PMID:26471083   PMID:26496610   PMID:26633373   PMID:26641092   PMID:26673895   PMID:26823018   PMID:26831064   PMID:26871637   PMID:27133379   PMID:27417143   PMID:27499429   PMID:27660666  
PMID:27684187   PMID:27753040   PMID:27999621   PMID:28128742   PMID:28338090   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28685749   PMID:28718761   PMID:29053956   PMID:29128334  
PMID:29162697   PMID:29467281   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29610456   PMID:29627389   PMID:29676528   PMID:29724999   PMID:29845934   PMID:29955894   PMID:29970704  
PMID:30021884   PMID:30043648   PMID:30158637   PMID:30273999   PMID:30426784   PMID:30442766   PMID:30575818   PMID:30631154   PMID:30670682   PMID:30711629   PMID:30737378   PMID:30809309  
PMID:30890647   PMID:30979931   PMID:31067453   PMID:31088406   PMID:31091453   PMID:31114136   PMID:31285548   PMID:31300519   PMID:31316143   PMID:31426855   PMID:31452512   PMID:31519766  
PMID:31558699   PMID:31586073   PMID:31762063   PMID:31980649   PMID:32106387   PMID:32122354   PMID:32296183   PMID:32378260   PMID:32780723   PMID:33144569  


Genomics

Comparative Map Data
SEPTIN9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1777,280,569 - 77,500,596 (+)EnsemblGRCh38hg38GRCh38
GRCh381777,281,499 - 77,500,596 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371775,277,581 - 75,496,678 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371775,277,492 - 75,496,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361772,827,197 - 73,008,273 (+)NCBINCBI36hg18NCBI36
Build 341772,827,743 - 73,008,269NCBI
Celera1771,879,127 - 72,091,668 (+)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1770,710,975 - 70,904,981 (+)NCBIHuRef
HuRef1770,908,680 - 70,922,066 (+)NCBIHuRef
CHM1_11775,342,249 - 75,561,442 (+)NCBICHM1_1
Septin9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911117,090,487 - 117,253,151 (+)NCBIGRCm39mm39
GRCm3811117,199,661 - 117,362,325 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11117,199,661 - 117,362,325 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711117,060,975 - 117,223,639 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611117,147,810 - 117,178,397 (+)NCBImm8
Celera11128,945,198 - 129,106,872 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1182.61NCBI
Septin9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210102,409,798 - 102,579,056 (+)NCBI
Rnor_6.0 Ensembl10106,264,434 - 106,348,490 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.010106,208,308 - 106,340,747 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.010105,841,829 - 105,987,909 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410107,343,672 - 107,479,964 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110107,358,175 - 107,494,457 (+)NCBI
Celera10101,009,659 - 101,144,045 (+)NCBICelera
Cytogenetic Map10q32.2NCBI
Septin9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555064,942,056 - 5,090,441 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555064,943,108 - 5,033,088 (-)NCBIChiLan1.0ChiLan1.0
SEPTIN9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11776,920,236 - 77,139,586 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1776,920,236 - 77,139,586 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01771,361,002 - 71,580,995 (+)NCBIMhudiblu_PPA_v0panPan3
SEPTIN9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl93,448,793 - 3,616,732 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.193,495,764 - 3,571,755 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Septin9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365942,213,459 - 2,286,582 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl124,254,775 - 4,405,628 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1124,254,771 - 4,347,526 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2124,002,058 - 4,153,307 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11644,211,692 - 44,424,242 (-)NCBI
ChlSab1.1 Ensembl1644,213,623 - 44,310,524 (-)Ensembl
Septin9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248016,988,914 - 7,156,469 (+)NCBI

Position Markers
D17S705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,289,049 - 75,289,140UniSTSGRCh37
Celera1771,884,061 - 71,884,152UniSTS
Cytogenetic Map17q25UniSTS
HuRef1770,715,720 - 70,715,811UniSTS
Marshfield Genetic Map17105.68RGD
Marshfield Genetic Map17105.68UniSTS
D17S939  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
Marshfield Genetic Map17105.68RGD
Marshfield Genetic Map17105.68UniSTS
Genethon Genetic Map17106.9UniSTS
GeneMap99-GB4 RH Map17494.51UniSTS
NCBI RH Map17796.1UniSTS
D17S802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,668,750 - 241,669,019UniSTSGRCh37
GRCh371776,234,610 - 76,234,787UniSTSGRCh37
Build 362241,317,423 - 241,317,692RGDNCBI36
Celera1772,830,638 - 72,830,815UniSTS
Celera2235,341,570 - 235,341,839RGD
Celera1627,352,670 - 27,353,078UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25UniSTS
HuRef2233,428,287 - 233,428,556UniSTS
HuRef1627,131,412 - 27,131,820UniSTS
HuRef1771,658,741 - 71,658,912UniSTS
Marshfield Genetic Map17106.8UniSTS
Marshfield Genetic Map17106.8RGD
Genethon Genetic Map17108.2UniSTS
deCODE Assembly Map17120.84UniSTS
D17S1603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,066,838 - 74,067,063UniSTSGRCh37
Build 361771,578,433 - 71,578,658RGDNCBI36
Celera1770,656,942 - 70,657,165RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25UniSTS
HuRef1769,492,570 - 69,492,793UniSTS
Marshfield Genetic Map17102.99UniSTS
Marshfield Genetic Map17102.99RGD
Genethon Genetic Map17104.2UniSTS
deCODE Assembly Map17115.06UniSTS
D17S937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,347,271 - 75,347,415UniSTSGRCh37
Build 361772,858,866 - 72,859,010RGDNCBI36
Celera1771,942,323 - 71,942,459RGD
Cytogenetic Map17q25UniSTS
Marshfield Genetic Map17105.68RGD
Marshfield Genetic Map17105.68UniSTS
Genethon Genetic Map17106.9UniSTS
deCODE Assembly Map17118.1UniSTS
AFM267xh1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,462,108 - 75,462,320UniSTSGRCh37
Build 361772,973,703 - 72,973,915RGDNCBI36
Celera1772,057,849 - 72,058,061RGD
Cytogenetic Map17q25UniSTS
RH98887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,496,180 - 75,496,321UniSTSGRCh37
Build 361773,007,775 - 73,007,916RGDNCBI36
Celera1772,091,170 - 72,091,311RGD
Cytogenetic Map17q25UniSTS
HuRef1770,921,568 - 70,921,709UniSTS
GeneMap99-GB4 RH Map17494.41UniSTS
RH98696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,443,242 - 75,443,337UniSTSGRCh37
Build 361772,954,837 - 72,954,932RGDNCBI36
Celera1772,038,983 - 72,039,078RGD
Cytogenetic Map17q25UniSTS
HuRef1770,869,862 - 70,869,957UniSTS
GeneMap99-GB4 RH Map17494.41UniSTS
RH121931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,415,761 - 75,415,860UniSTSGRCh37
Build 361772,927,356 - 72,927,455RGDNCBI36
Celera1772,011,608 - 72,011,707RGD
Cytogenetic Map17q25UniSTS
HuRef1770,842,378 - 70,842,477UniSTS
TNG Radiation Hybrid Map1734692.0UniSTS
SHGC-111980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,358,739 - 75,358,841UniSTSGRCh37
Build 361772,870,334 - 72,870,436RGDNCBI36
Celera1771,954,512 - 71,954,614RGD
Cytogenetic Map17q25UniSTS
HuRef1770,785,360 - 70,785,462UniSTS
TNG Radiation Hybrid Map1734645.0UniSTS
SHGC-112100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,320,212 - 75,320,403UniSTSGRCh37
Build 361772,831,807 - 72,831,998RGDNCBI36
Celera1771,915,071 - 71,915,262RGD
Cytogenetic Map17q25UniSTS
HuRef1770,746,863 - 70,747,054UniSTS
TNG Radiation Hybrid Map1734630.0UniSTS
RH35918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,494,906 - 75,495,064UniSTSGRCh37
Build 361773,006,501 - 73,006,659RGDNCBI36
Celera1772,089,896 - 72,090,054RGD
Cytogenetic Map17q25UniSTS
HuRef1770,920,294 - 70,920,452UniSTS
GeneMap99-GB4 RH Map17494.41UniSTS
NCBI RH Map17796.1UniSTS
RH45518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371775,443,483 - 75,443,703UniSTSGRCh37
Build 361772,955,078 - 72,955,298RGDNCBI36
Celera1772,039,224 - 72,039,444RGD
Cytogenetic Map17q25UniSTS
HuRef1770,870,103 - 70,870,323UniSTS
GeneMap99-GB4 RH Map17494.41UniSTS
NCBI RH Map17796.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:24906
Count of miRNA genes:1314
Interacting mature miRNAs:1753
Transcripts:ENST00000329047, ENST00000423034, ENST00000427177, ENST00000427180, ENST00000427674, ENST00000431235, ENST00000449803, ENST00000541152, ENST00000585638, ENST00000585929, ENST00000585930, ENST00000586128, ENST00000586433, ENST00000586456, ENST00000586521, ENST00000586812, ENST00000587237, ENST00000587514, ENST00000588575, ENST00000588690, ENST00000588958, ENST00000589070, ENST00000589140, ENST00000589246, ENST00000589250, ENST00000589920, ENST00000590059, ENST00000590294, ENST00000590576, ENST00000590586, ENST00000590595, ENST00000590825, ENST00000590917, ENST00000590938, ENST00000591020, ENST00000591088, ENST00000591198, ENST00000591472, ENST00000591704, ENST00000591833, ENST00000591934, ENST00000592098, ENST00000592407, ENST00000592420, ENST00000592481, ENST00000592951, ENST00000593189
Prediction methods:Microtar, 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 2431 2632 1673 575 1891 417 4247 1920 3078 396 1446 1605 171 1204 2680 4
Low 5 353 51 49 56 48 109 276 636 23 12 7 2 1 108 1 2
Below cutoff 2 3 2 4 11 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA523782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC111170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC111182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF123052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF142569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF189713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ279153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN393537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA234895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB007851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB148645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC307336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329047   ⟹   ENSP00000329161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,319,515 - 77,500,592 (+)Ensembl
RefSeq Acc Id: ENST00000423034   ⟹   ENSP00000405877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,373,190 - 77,500,594 (+)Ensembl
RefSeq Acc Id: ENST00000427177   ⟹   ENSP00000391249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,281,499 - 77,500,593 (+)Ensembl
RefSeq Acc Id: ENST00000427180   ⟹   ENSP00000415624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,475,243 - 77,500,592 (+)Ensembl
RefSeq Acc Id: ENST00000427674   ⟹   ENSP00000403194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,376,083 - 77,500,594 (+)Ensembl
RefSeq Acc Id: ENST00000431235   ⟹   ENSP00000406987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,287,891 - 77,500,596 (+)Ensembl
RefSeq Acc Id: ENST00000449803   ⟹   ENSP00000400181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,287,891 - 77,500,592 (+)Ensembl
RefSeq Acc Id: ENST00000541152   ⟹   ENSP00000438089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,450,737 - 77,500,594 (+)Ensembl
RefSeq Acc Id: ENST00000585638   ⟹   ENSP00000466115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,481,913 - 77,488,788 (+)Ensembl
RefSeq Acc Id: ENST00000585929   ⟹   ENSP00000467780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,454,072 - 77,488,851 (+)Ensembl
RefSeq Acc Id: ENST00000585930   ⟹   ENSP00000468120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,405,077 - 77,498,941 (+)Ensembl
RefSeq Acc Id: ENST00000586128   ⟹   ENSP00000467792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,450,576 - 77,488,297 (+)Ensembl
RefSeq Acc Id: ENST00000586433   ⟹   ENSP00000468110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,454,027 - 77,488,810 (+)Ensembl
RefSeq Acc Id: ENST00000586456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,490,808 - 77,497,614 (+)Ensembl
RefSeq Acc Id: ENST00000586521   ⟹   ENSP00000466170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,426,956 - 77,488,273 (+)Ensembl
RefSeq Acc Id: ENST00000586812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,400,584 - 77,402,389 (+)Ensembl
RefSeq Acc Id: ENST00000587237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,287,949 - 77,402,200 (+)Ensembl
RefSeq Acc Id: ENST00000587514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,373,933 - 77,402,393 (+)Ensembl
RefSeq Acc Id: ENST00000588575   ⟹   ENSP00000468090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,319,592 - 77,488,761 (+)Ensembl
RefSeq Acc Id: ENST00000588690   ⟹   ENSP00000468668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,322,610 - 77,500,593 (+)Ensembl
RefSeq Acc Id: ENST00000588958   ⟹   ENSP00000464832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,450,567 - 77,490,859 (+)Ensembl
RefSeq Acc Id: ENST00000589070   ⟹   ENSP00000465332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,280,569 - 77,402,402 (+)Ensembl
RefSeq Acc Id: ENST00000589140   ⟹   ENSP00000466997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,380,123 - 77,402,483 (+)Ensembl
RefSeq Acc Id: ENST00000589246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,497,075 - 77,498,824 (+)Ensembl
RefSeq Acc Id: ENST00000589250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,488,803 - 77,493,230 (+)Ensembl
RefSeq Acc Id: ENST00000589920   ⟹   ENSP00000466532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,481,910 - 77,488,264 (+)Ensembl
RefSeq Acc Id: ENST00000590059   ⟹   ENSP00000466164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,373,337 - 77,487,537 (+)Ensembl
RefSeq Acc Id: ENST00000590294   ⟹   ENSP00000465464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,319,515 - 77,500,596 (+)Ensembl
RefSeq Acc Id: ENST00000590576   ⟹   ENSP00000465600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,286,307 - 77,402,449 (+)Ensembl
RefSeq Acc Id: ENST00000590586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,374,177 - 77,402,449 (+)Ensembl
RefSeq Acc Id: ENST00000590595   ⟹   ENSP00000465026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,319,602 - 77,402,703 (+)Ensembl
RefSeq Acc Id: ENST00000590825   ⟹   ENSP00000468244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,400,558 - 77,402,579 (+)Ensembl
RefSeq Acc Id: ENST00000590917   ⟹   ENSP00000467619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,454,080 - 77,487,493 (+)Ensembl
RefSeq Acc Id: ENST00000590938   ⟹   ENSP00000466201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,453,825 - 77,488,762 (+)Ensembl
RefSeq Acc Id: ENST00000591020   ⟹   ENSP00000467908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,419,802 - 77,488,826 (+)Ensembl
RefSeq Acc Id: ENST00000591088   ⟹   ENSP00000466247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,451,244 - 77,499,024 (+)Ensembl
RefSeq Acc Id: ENST00000591198   ⟹   ENSP00000468406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,281,451 - 77,499,029 (+)Ensembl
RefSeq Acc Id: ENST00000591472   ⟹   ENSP00000468410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,456,366 - 77,488,737 (+)Ensembl
RefSeq Acc Id: ENST00000591704   ⟹   ENSP00000465415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,450,848 - 77,490,818 (+)Ensembl
RefSeq Acc Id: ENST00000591833   ⟹   ENSP00000466684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,281,437 - 77,402,329 (+)Ensembl
RefSeq Acc Id: ENST00000591934   ⟹   ENSP00000468504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,320,313 - 77,402,415 (+)Ensembl
RefSeq Acc Id: ENST00000592098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,323,706 - 77,402,455 (+)Ensembl
RefSeq Acc Id: ENST00000592407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,375,921 - 77,402,089 (+)Ensembl
RefSeq Acc Id: ENST00000592420   ⟹   ENSP00000467051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,402,101 - 77,484,128 (+)Ensembl
RefSeq Acc Id: ENST00000592481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,451,244 - 77,496,367 (+)Ensembl
RefSeq Acc Id: ENST00000592951   ⟹   ENSP00000466648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,453,993 - 77,499,040 (+)Ensembl
RefSeq Acc Id: ENST00000593189   ⟹   ENSP00000465904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,466,403 - 77,490,859 (+)Ensembl
RefSeq Acc Id: ENST00000675703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1777,488,029 - 77,491,130 (+)Ensembl
RefSeq Acc Id: NM_001113491   ⟹   NP_001106963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,281,499 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)NCBI
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,342,249 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113492   ⟹   NP_001106964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,287,935 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)NCBI
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,348,730 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113493   ⟹   NP_001106965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,373,337 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)NCBI
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,434,050 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113494   ⟹   NP_001106966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,376,083 - 77,500,596 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)NCBI
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,436,943 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113495   ⟹   NP_001106967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,475,635 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)ENTREZGENE
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,536,087 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113496   ⟹   NP_001106968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,450,749 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)ENTREZGENE
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,511,382 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293695   ⟹   NP_001280624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,281,499 - 77,500,593 (+)NCBI
CHM1_11775,342,249 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293696   ⟹   NP_001280625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,405,077 - 77,500,593 (+)NCBI
CHM1_11775,465,934 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293697   ⟹   NP_001280626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,451,484 - 77,500,593 (+)NCBI
CHM1_11775,512,095 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293698   ⟹   NP_001280627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,454,027 - 77,500,593 (+)NCBI
CHM1_11775,514,844 - 75,561,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006640   ⟹   NP_006631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,319,518 - 77,500,593 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)NCBI
GRCh371775,277,492 - 75,496,678 (+)ENTREZGENE
Build 361772,827,197 - 73,008,273 (+)NCBI Archive
HuRef1770,710,975 - 70,904,981 (+)ENTREZGENE
HuRef1770,908,680 - 70,922,066 (+)NCBI
CHM1_11775,380,360 - 75,561,442 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001106963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106964 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280624 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280625 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280626 (Get FASTA)   NCBI Sequence Viewer  
  NP_001280627 (Get FASTA)   NCBI Sequence Viewer  
  NP_006631 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD39749 (Get FASTA)   NCBI Sequence Viewer  
  AAF23373 (Get FASTA)   NCBI Sequence Viewer  
  AAF23374 (Get FASTA)   NCBI Sequence Viewer  
  AAG27919 (Get FASTA)   NCBI Sequence Viewer  
  AAG27922 (Get FASTA)   NCBI Sequence Viewer  
  AAH21192 (Get FASTA)   NCBI Sequence Viewer  
  AAH54004 (Get FASTA)   NCBI Sequence Viewer  
  AAI14551 (Get FASTA)   NCBI Sequence Viewer  
  AAI28417 (Get FASTA)   NCBI Sequence Viewer  
  AAP35879 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33996 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33997 (Get FASTA)   NCBI Sequence Viewer  
  BAA76835 (Get FASTA)   NCBI Sequence Viewer  
  BAB14057 (Get FASTA)   NCBI Sequence Viewer  
  BAF83057 (Get FASTA)   NCBI Sequence Viewer  
  BAG51732 (Get FASTA)   NCBI Sequence Viewer  
  BAG62029 (Get FASTA)   NCBI Sequence Viewer  
  BAG62031 (Get FASTA)   NCBI Sequence Viewer  
  BAG64494 (Get FASTA)   NCBI Sequence Viewer  
  BAG65036 (Get FASTA)   NCBI Sequence Viewer  
  BAH13140 (Get FASTA)   NCBI Sequence Viewer  
  BAH14844 (Get FASTA)   NCBI Sequence Viewer  
  CAB45728 (Get FASTA)   NCBI Sequence Viewer  
  CAC42221 (Get FASTA)   NCBI Sequence Viewer  
  CAC42222 (Get FASTA)   NCBI Sequence Viewer  
  CAC42223 (Get FASTA)   NCBI Sequence Viewer  
  CAC42224 (Get FASTA)   NCBI Sequence Viewer  
  CAC42225 (Get FASTA)   NCBI Sequence Viewer  
  EAW89461 (Get FASTA)   NCBI Sequence Viewer  
  EAW89462 (Get FASTA)   NCBI Sequence Viewer  
  EAW89463 (Get FASTA)   NCBI Sequence Viewer  
  EAW89464 (Get FASTA)   NCBI Sequence Viewer  
  EAW89465 (Get FASTA)   NCBI Sequence Viewer  
  EAW89466 (Get FASTA)   NCBI Sequence Viewer  
  EAW89467 (Get FASTA)   NCBI Sequence Viewer  
  EAW89468 (Get FASTA)   NCBI Sequence Viewer  
  Q9UHD8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001106964   ⟸   NM_001113492
- Peptide Label: isoform e
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106963   ⟸   NM_001113491
- Peptide Label: isoform a
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006631   ⟸   NM_006640
- Peptide Label: isoform c
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot),   A0A0S2Z5A5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001106966   ⟸   NM_001113494
- Peptide Label: isoform e
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106965   ⟸   NM_001113493
- Peptide Label: isoform b
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106968   ⟸   NM_001113496
- Peptide Label: isoform f
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106967   ⟸   NM_001113495
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001280624   ⟸   NM_001293695
- Peptide Label: isoform g
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280625   ⟸   NM_001293696
- Peptide Label: isoform h
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280626   ⟸   NM_001293697
- Peptide Label: isoform f
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001280627   ⟸   NM_001293698
- Peptide Label: isoform f
- UniProtKB: Q9UHD8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000438089   ⟸   ENST00000541152
RefSeq Acc Id: ENSP00000405877   ⟸   ENST00000423034
RefSeq Acc Id: ENSP00000403194   ⟸   ENST00000427674
RefSeq Acc Id: ENSP00000415624   ⟸   ENST00000427180
RefSeq Acc Id: ENSP00000391249   ⟸   ENST00000427177
RefSeq Acc Id: ENSP00000466115   ⟸   ENST00000585638
RefSeq Acc Id: ENSP00000468120   ⟸   ENST00000585930
RefSeq Acc Id: ENSP00000467780   ⟸   ENST00000585929
RefSeq Acc Id: ENSP00000467792   ⟸   ENST00000586128
RefSeq Acc Id: ENSP00000466170   ⟸   ENST00000586521
RefSeq Acc Id: ENSP00000468110   ⟸   ENST00000586433
RefSeq Acc Id: ENSP00000464832   ⟸   ENST00000588958
RefSeq Acc Id: ENSP00000468668   ⟸   ENST00000588690
RefSeq Acc Id: ENSP00000468090   ⟸   ENST00000588575
RefSeq Acc Id: ENSP00000466997   ⟸   ENST00000589140
RefSeq Acc Id: ENSP00000465332   ⟸   ENST00000589070
RefSeq Acc Id: ENSP00000466532   ⟸   ENST00000589920
RefSeq Acc Id: ENSP00000406987   ⟸   ENST00000431235
RefSeq Acc Id: ENSP00000329161   ⟸   ENST00000329047
RefSeq Acc Id: ENSP00000465464   ⟸   ENST00000590294
RefSeq Acc Id: ENSP00000466164   ⟸   ENST00000590059
RefSeq Acc Id: ENSP00000465600   ⟸   ENST00000590576
RefSeq Acc Id: ENSP00000465026   ⟸   ENST00000590595
RefSeq Acc Id: ENSP00000468244   ⟸   ENST00000590825
RefSeq Acc Id: ENSP00000467619   ⟸   ENST00000590917
RefSeq Acc Id: ENSP00000466201   ⟸   ENST00000590938
RefSeq Acc Id: ENSP00000468410   ⟸   ENST00000591472
RefSeq Acc Id: ENSP00000468504   ⟸   ENST00000591934
RefSeq Acc Id: ENSP00000466684   ⟸   ENST00000591833
RefSeq Acc Id: ENSP00000465415   ⟸   ENST00000591704
RefSeq Acc Id: ENSP00000468406   ⟸   ENST00000591198
RefSeq Acc Id: ENSP00000466247   ⟸   ENST00000591088
RefSeq Acc Id: ENSP00000467908   ⟸   ENST00000591020
RefSeq Acc Id: ENSP00000466648   ⟸   ENST00000592951
RefSeq Acc Id: ENSP00000400181   ⟸   ENST00000449803
RefSeq Acc Id: ENSP00000467051   ⟸   ENST00000592420
RefSeq Acc Id: ENSP00000465904   ⟸   ENST00000593189
Protein Domains
Septin-type G

Promoters
RGD ID:6794526
Promoter ID:HG_KWN:27216
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006640
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,826,436 - 72,828,002 (+)MPROMDB
RGD ID:6794521
Promoter ID:HG_KWN:27217
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001113493
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,880,471 - 72,881,117 (+)MPROMDB
RGD ID:6811313
Promoter ID:HG_ACW:36524
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:SEPT9.UAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,881,406 - 72,882,207 (+)MPROMDB
RGD ID:6794519
Promoter ID:HG_KWN:27218
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000397613,   ENST00000407798,   NM_001113494
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,883,926 - 72,884,426 (+)MPROMDB
RGD ID:6811314
Promoter ID:HG_ACW:36527
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:SEPT9.VCAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,908,201 - 72,908,701 (+)MPROMDB
RGD ID:6794525
Promoter ID:HG_KWN:27224
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001113496
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,957,241 - 72,958,707 (+)MPROMDB
RGD ID:6814615
Promoter ID:HG_XEF:3568
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_001113488
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,958,949 - 72,959,449 (+)MPROMDB
RGD ID:6811312
Promoter ID:HG_ACW:36536
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:SEPT9.JAPR07,   SEPT9.MAPR07,   SEPT9.NAPR07,   SEPT9.VBAPR07,   SEPT9.VIAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,961,399 - 72,961,899 (+)MPROMDB
RGD ID:6794524
Promoter ID:HG_KWN:27225
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_001113495
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,982,931 - 72,983,567 (+)MPROMDB
RGD ID:6815229
Promoter ID:HG_MRA:7095
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF142569,   CR610977,   CR614659,   CR626353,   CU676865
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,007,046 - 73,007,546 (+)MPROMDB
RGD ID:7236479
Promoter ID:EPDNEW_H23985
Type:initiation region
Name:SEPT9_6
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23986  EPDNEW_H23988  EPDNEW_H23987  EPDNEW_H23990  EPDNEW_H23989  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,280,570 - 77,280,630EPDNEW
RGD ID:7236481
Promoter ID:EPDNEW_H23986
Type:initiation region
Name:SEPT9_2
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23985  EPDNEW_H23988  EPDNEW_H23987  EPDNEW_H23990  EPDNEW_H23989  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,281,502 - 77,281,562EPDNEW
RGD ID:7236485
Promoter ID:EPDNEW_H23987
Type:initiation region
Name:SEPT9_4
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23985  EPDNEW_H23986  EPDNEW_H23988  EPDNEW_H23990  EPDNEW_H23989  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,319,598 - 77,319,658EPDNEW
RGD ID:7236483
Promoter ID:EPDNEW_H23988
Type:initiation region
Name:SEPT9_5
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23985  EPDNEW_H23986  EPDNEW_H23987  EPDNEW_H23990  EPDNEW_H23989  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,373,091 - 77,373,151EPDNEW
RGD ID:7236491
Promoter ID:EPDNEW_H23989
Type:initiation region
Name:SEPT9_1
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23985  EPDNEW_H23986  EPDNEW_H23988  EPDNEW_H23987  EPDNEW_H23990  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,373,337 - 77,373,397EPDNEW
RGD ID:7236487
Promoter ID:EPDNEW_H23990
Type:initiation region
Name:SEPT9_3
Description:septin 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23983  EPDNEW_H23985  EPDNEW_H23986  EPDNEW_H23988  EPDNEW_H23987  EPDNEW_H23989  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381777,450,749 - 77,450,809EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SEPT9, 38-KB DUP duplication Amyotrophy, hereditary neuralgic [RCV000006224] Chr17:17q25 pathogenic
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000006221]|not provided [RCV000516514] Chr17:77402298 [GRCh38]
Chr17:75398380 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000006222] Chr17:77402314 [GRCh38]
Chr17:75398396 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001113491.2(SEPTIN9):c.76+12996G>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000006223] Chr17:77320193 [GRCh38]
Chr17:75316275 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:77320131-77564650)x3 copy number gain See cases [RCV000054047] Chr17:77320131..77564650 [GRCh38]
Chr17:75316213..75560732 [GRCh37]
Chr17:72827808..73072327 [NCBI36]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV001002747] Chr17:77492700 [GRCh38]
Chr17:75488782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144865] Chr17:77482288 [GRCh38]
Chr17:75478370 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) indel not specified [RCV000517277] Chr17:77402335..77402336 [GRCh38]
Chr17:75398417..75398418 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:75468978-75556850)x3 copy number gain See cases [RCV000240009] Chr17:75468978..75556850 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.26C>T (p.Thr9Met) single nucleotide variant not provided [RCV000487567] Chr17:77307147 [GRCh38]
Chr17:75303229 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*789G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000285522] Chr17:77499447 [GRCh38]
Chr17:75495529 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*709C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000269217] Chr17:77499367 [GRCh38]
Chr17:75495449 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*45C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000290598] Chr17:77498703 [GRCh38]
Chr17:75494785 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.1573+9C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000291977]|not provided [RCV000958437] Chr17:77493085 [GRCh38]
Chr17:75489167 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000292928]|not specified [RCV000516239] Chr17:77490817 [GRCh38]
Chr17:75486899 [GRCh37]
Chr17:17q25.3
benign|likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*1847G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000259211] Chr17:77500505 [GRCh38]
Chr17:75496587 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*573C>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000277364] Chr17:77499231 [GRCh38]
Chr17:75495313 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000296085] Chr17:77402424 [GRCh38]
Chr17:75398506 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000278337]|not provided [RCV000890282] Chr17:77402259 [GRCh38]
Chr17:75398341 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*989T>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000296499] Chr17:77499647 [GRCh38]
Chr17:75495729 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12350G>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000299021] Chr17:77319547 [GRCh38]
Chr17:75315629 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*1896A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000320227] Chr17:77500554 [GRCh38]
Chr17:75496636 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000365616]|not provided [RCV000890177] Chr17:77402692 [GRCh38]
Chr17:75398774 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*1639C>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000268507] Chr17:77500297 [GRCh38]
Chr17:75496379 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000267879]|not specified [RCV000516450] Chr17:77487446 [GRCh38]
Chr17:75483528 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000308581]|not provided [RCV000927318] Chr17:77402582 [GRCh38]
Chr17:75398664 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.76+13013GAG[6] microsatellite Hereditary Neuralgic Amyotrophy (HNA) [RCV000270435] Chr17:77320210..77320215 [GRCh38]
Chr17:75316292..75316297 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*903C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000281150] Chr17:77499561 [GRCh38]
Chr17:75495643 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1233C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000366531] Chr17:77499891 [GRCh38]
Chr17:75495973 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*479C>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000367229] Chr17:77499137 [GRCh38]
Chr17:75495219 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.*417C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000392782] Chr17:77499075 [GRCh38]
Chr17:75495157 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12793G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000271750] Chr17:77319990 [GRCh38]
Chr17:75316072 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.914-4C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000360208]|not provided [RCV000882621] Chr17:77487420 [GRCh38]
Chr17:75483502 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*20dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000270816] Chr17:77498673..77498674 [GRCh38]
Chr17:75494755..75494756 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1720T>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000323614] Chr17:77500378 [GRCh38]
Chr17:75496460 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.76+12764G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000368739] Chr17:77319961 [GRCh38]
Chr17:75316043 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12730G>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000311820] Chr17:77319927 [GRCh38]
Chr17:75316009 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*454G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000312451] Chr17:77499112 [GRCh38]
Chr17:75495194 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.76+12824C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000362921] Chr17:77320021 [GRCh38]
Chr17:75316103 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1125-10C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000372283]|not provided [RCV000901166] Chr17:77488717 [GRCh38]
Chr17:75484799 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000318320]|not provided [RCV000881824]|not specified [RCV000518080] Chr17:77402183 [GRCh38]
Chr17:75398265 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1043-4G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000319796]|not provided [RCV000884105] Chr17:77488236 [GRCh38]
Chr17:75484318 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.76+12362T>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000370039] Chr17:77319559 [GRCh38]
Chr17:75315641 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000350151]|not provided [RCV000901277] Chr17:77492686 [GRCh38]
Chr17:75488768 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1125-5C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000280075] Chr17:77488722 [GRCh38]
Chr17:75484804 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*764C>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000320635] Chr17:77499422 [GRCh38]
Chr17:75495504 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000320560]|not provided [RCV000914533] Chr17:77487551 [GRCh38]
Chr17:75483633 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000375254] Chr17:77402184 [GRCh38]
Chr17:75398266 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1204A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000307015] Chr17:77499862 [GRCh38]
Chr17:75495944 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000307855]|not provided [RCV000900460] Chr17:77482334 [GRCh38]
Chr17:75478416 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*718C>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000328935] Chr17:77499376 [GRCh38]
Chr17:75495458 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.76+12812C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000329275] Chr17:77320009 [GRCh38]
Chr17:75316091 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1900A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000374825] Chr17:77500558 [GRCh38]
Chr17:75496640 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*876C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000375639] Chr17:77499534 [GRCh38]
Chr17:75495616 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.76+13049A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000323208] Chr17:77320246 [GRCh38]
Chr17:75316328 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*20C>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000325687] Chr17:77498678 [GRCh38]
Chr17:75494760 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*14dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000274288] Chr17:77498669..77498670 [GRCh38]
Chr17:75494751..75494752 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*207G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000287067] Chr17:77498865 [GRCh38]
Chr17:75494947 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*783A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000379929] Chr17:77499441 [GRCh38]
Chr17:75495523 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*9dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000263832] Chr17:77498664..77498665 [GRCh38]
Chr17:75494746..75494747 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000332522]|not provided [RCV000973219] Chr17:77488850 [GRCh38]
Chr17:75484932 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.1477-9G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000383983]|not provided [RCV000893693] Chr17:77492971 [GRCh38]
Chr17:75489053 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*40A>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000384864] Chr17:77498698 [GRCh38]
Chr17:75494780 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000380185] Chr17:77402116 [GRCh38]
Chr17:75398198 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000389410] Chr17:77490799 [GRCh38]
Chr17:75486881 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*759A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000265628] Chr17:77499417 [GRCh38]
Chr17:75495499 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000406676]|not specified [RCV000518341] Chr17:77402416 [GRCh38]
Chr17:75398498 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000406675]|Charcot-Marie-Tooth disease [RCV000857024]|Charcot-Marie-Tooth disease, type I [RCV000857025] Chr17:77402520 [GRCh38]
Chr17:75398602 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000335760] Chr17:77402304 [GRCh38]
Chr17:75398386 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*283C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000392806] Chr17:77498941 [GRCh38]
Chr17:75495023 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*740C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000383487] Chr17:77499398 [GRCh38]
Chr17:75495480 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000359029] Chr17:77487552 [GRCh38]
Chr17:75483634 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*325T>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000297232] Chr17:77498983 [GRCh38]
Chr17:75495065 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*260C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000342020] Chr17:77498918 [GRCh38]
Chr17:75495000 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000605206]|not specified [RCV000517002] Chr17:77498623 [GRCh38]
Chr17:75494705 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1573+10G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000344456]|not provided [RCV000893723] Chr17:77493086 [GRCh38]
Chr17:75489168 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*377T>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000338176] Chr17:77499035 [GRCh38]
Chr17:75495117 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1042+10C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000262368]|not provided [RCV000957659] Chr17:77487562 [GRCh38]
Chr17:75483644 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000348786] Chr17:77402501 [GRCh38]
Chr17:75398583 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1292G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000403893] Chr17:77499950 [GRCh38]
Chr17:75496032 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.819G>A (p.Pro273=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000403960] Chr17:77482241 [GRCh38]
Chr17:75478323 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*6A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000300249] Chr17:77498664 [GRCh38]
Chr17:75494746 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1463G>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000303702] Chr17:77500121 [GRCh38]
Chr17:75496203 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*939A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000350243] Chr17:77499597 [GRCh38]
Chr17:75495679 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*955C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000406697] Chr17:77499613 [GRCh38]
Chr17:75495695 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.76+12407G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000405799] Chr17:77319604 [GRCh38]
Chr17:75315686 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000406238]|not provided [RCV000899582] Chr17:77498649 [GRCh38]
Chr17:75494731 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*657T>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000363814] Chr17:77499315 [GRCh38]
Chr17:75495397 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000304981] Chr17:77497325 [GRCh38]
Chr17:75493407 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NM_001113491.2(SEPTIN9):c.*1035G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000351367] Chr17:77499693 [GRCh38]
Chr17:75495775 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1574-10C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000408064]|not provided [RCV000958232]|not specified [RCV001287943] Chr17:77497305 [GRCh38]
Chr17:75493387 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.*5dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000303867] Chr17:77498661..77498662 [GRCh38]
Chr17:75494743..75494744 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*867G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000317152] Chr17:77499525 [GRCh38]
Chr17:75495607 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000283466] Chr17:77402140 [GRCh38]
Chr17:75398222 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12311C>T single nucleotide variant Hereditary Neuralgic Amyotrophy (HNA) [RCV000347708] Chr17:77319508 [GRCh38]
Chr17:75315590 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.*11dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000368972] Chr17:77498668..77498669 [GRCh38]
Chr17:75494750..75494751 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1724G>A (p.Gly575Asp) single nucleotide variant not specified [RCV000521955] Chr17:77498621 [GRCh38]
Chr17:75494703 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1724G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000355153] Chr17:77500382 [GRCh38]
Chr17:75496464 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*5_*6insG insertion Hereditary Neuralgic Amyotrophy (HNA) [RCV000356367] Chr17:77498663..77498664 [GRCh38]
Chr17:75494745..75494746 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1130_*1131insAAG insertion Hereditary Neuralgic Amyotrophy (HNA) [RCV000393139] Chr17:77499786..77499787 [GRCh38]
Chr17:75495868..75495869 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*55dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000340911] Chr17:77498705..77498706 [GRCh38]
Chr17:75494787..75494788 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1570dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000358451] Chr17:77500226..77500227 [GRCh38]
Chr17:75496308..75496309 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.*54_*55dup duplication Hereditary Neuralgic Amyotrophy (HNA) [RCV000376645] Chr17:77498705..77498706 [GRCh38]
Chr17:75494787..75494788 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.721+2405G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000615412] Chr17:77405108 [GRCh38]
Chr17:75401190 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*586A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000313756] Chr17:77499244 [GRCh38]
Chr17:75495326 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+19T>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000603950] Chr17:77307216 [GRCh38]
Chr17:75303298 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q25.2-25.3(chr17:75104943-75602123)x3 copy number gain See cases [RCV000510636] Chr17:75104943..75602123 [GRCh37]
Chr17:17q25.2-25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.563_564del (p.Val188fs) deletion not specified [RCV000499000] Chr17:77402544..77402545 [GRCh38]
Chr17:75398626..75398627 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1081A>G (p.Ile361Val) single nucleotide variant not specified [RCV000497625] Chr17:77488278 [GRCh38]
Chr17:75484360 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:75447984-75563387)x3 copy number gain See cases [RCV000511440] Chr17:75447984..75563387 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001113491.2(SEPTIN9):c.77-28563T>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV000608434] Chr17:77373496 [GRCh38]
Chr17:75369578 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
t(11;17)(q23;q25) translocation Acute megakaryoblastic leukemia [RCV000721127] Chr11:118482092..118482093 [GRCh38]
Chr17:77402059..77402060 [GRCh38]
Chr11:11q23.3
Chr17:17q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001113491.2(SEPTIN9):c.148C>G (p.Pro50Ala) single nucleotide variant not provided [RCV000977736] Chr17:77402130 [GRCh38]
Chr17:75398212 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123904]|not provided [RCV000916573] Chr17:77488763 [GRCh38]
Chr17:75484845 [GRCh37]
Chr17:17q25.3
benign|likely benign
GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1 copy number loss not provided [RCV001006920] Chr17:74509193..75602123 [GRCh37]
Chr17:17q25.1-25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857023] Chr17:77402198 [GRCh38]
Chr17:75398280 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-6423del deletion Sodium channelopathy-related small fiber neuropathy [RCV000857030] Chr17:77475718 [GRCh38]
Chr17:75471800 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-6334T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000857031] Chr17:77475810 [GRCh38]
Chr17:75471892 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-6324del deletion Charcot-Marie-Tooth disease [RCV000857032] Chr17:77475820 [GRCh38]
Chr17:75471902 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT indel Charcot-Marie-Tooth disease [RCV000857035] Chr17:77482397..77482399 [GRCh38]
Chr17:75478479..75478481 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857036] Chr17:77492663 [GRCh38]
Chr17:75488745 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-6624T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000857028] Chr17:77475520 [GRCh38]
Chr17:75471602 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-6589G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000857029] Chr17:77475555 [GRCh38]
Chr17:75471637 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1098C>T (p.Phe366=) single nucleotide variant not provided [RCV000902942] Chr17:77488295 [GRCh38]
Chr17:75484377 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=) single nucleotide variant not provided [RCV000996609] Chr17:77402198 [GRCh38]
Chr17:75398280 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1407C>T (p.Gly469=) single nucleotide variant not provided [RCV000996610] Chr17:77492647 [GRCh38]
Chr17:75488729 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) single nucleotide variant not provided [RCV000933129] Chr17:77402669 [GRCh38]
Chr17:75398751 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857038] Chr17:77492983 [GRCh38]
Chr17:75489065 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.132C>G (p.Pro44=) single nucleotide variant not provided [RCV000937802] Chr17:77402114 [GRCh38]
Chr17:75398196 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.1473C>T (p.Phe491=) single nucleotide variant not provided [RCV000923858] Chr17:77492713 [GRCh38]
Chr17:75488795 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.1116C>T (p.Asn372=) single nucleotide variant not provided [RCV000925481] Chr17:77488313 [GRCh38]
Chr17:75484395 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001128525]|not provided [RCV000892326] Chr17:77402561 [GRCh38]
Chr17:75398643 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.345G>A (p.Ser115=) single nucleotide variant not provided [RCV000902134] Chr17:77402327 [GRCh38]
Chr17:75398409 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.1723G>A (p.Gly575Ser) single nucleotide variant not provided [RCV000942927] Chr17:77498620 [GRCh38]
Chr17:75494702 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.1317C>T (p.Ile439=) single nucleotide variant not provided [RCV000897327] Chr17:77490796 [GRCh38]
Chr17:75486878 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001113491.2(SEPTIN9):c.760G>A (p.Asp254Asn) single nucleotide variant not provided [RCV001090255] Chr17:77482182 [GRCh38]
Chr17:75478264 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857026] Chr17:77402596 [GRCh38]
Chr17:75398678 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*56A>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122935] Chr17:77498714 [GRCh38]
Chr17:75494796 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*911C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123036] Chr17:77499569 [GRCh38]
Chr17:75495651 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12954C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126463] Chr17:77320151 [GRCh38]
Chr17:75316233 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*578G>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126672] Chr17:77499236 [GRCh38]
Chr17:75495318 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1253T>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126768] Chr17:77499911 [GRCh38]
Chr17:75495993 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1548C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126770] Chr17:77500206 [GRCh38]
Chr17:75496288 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.722-7T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000857033] Chr17:77482137 [GRCh38]
Chr17:75478219 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1476+2T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000857037] Chr17:77492718 [GRCh38]
Chr17:75488800 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857039] Chr17:77498604 [GRCh38]
Chr17:75494686 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.19+4829C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000857022] Chr17:77286383 [GRCh38]
Chr17:75282465 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857027] Chr17:77402619 [GRCh38]
Chr17:75398701 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857034] Chr17:77482173 [GRCh38]
Chr17:75478255 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857040] Chr17:77498648 [GRCh38]
Chr17:75494730 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126564]|not provided [RCV000915184] Chr17:77492638 [GRCh38]
Chr17:75488720 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001128524]|not provided [RCV000885513] Chr17:77402250 [GRCh38]
Chr17:75398332 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) single nucleotide variant not provided [RCV000882100] Chr17:77402123 [GRCh38]
Chr17:75398205 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.619A>G (p.Thr207Ala) single nucleotide variant not provided [RCV000910308] Chr17:77402601 [GRCh38]
Chr17:75398683 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.1464C>T (p.Asn488=) single nucleotide variant not provided [RCV000907525] Chr17:77492704 [GRCh38]
Chr17:75488786 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126464]|not provided [RCV000910521] Chr17:77402081 [GRCh38]
Chr17:75398163 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126563] Chr17:77492626 [GRCh38]
Chr17:75488708 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*628G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126673] Chr17:77499286 [GRCh38]
Chr17:75495368 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1124C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126767] Chr17:77499782 [GRCh38]
Chr17:75495864 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1314C>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126769] Chr17:77499972 [GRCh38]
Chr17:75496054 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12321C>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122726] Chr17:77319518 [GRCh38]
Chr17:75315600 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.76+12716G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123817] Chr17:77319913 [GRCh38]
Chr17:75315995 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*372C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123999] Chr17:77499030 [GRCh38]
Chr17:75495112 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*373G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001124000] Chr17:77499031 [GRCh38]
Chr17:75495113 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*1012G>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001124105] Chr17:77499670 [GRCh38]
Chr17:75495752 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser) single nucleotide variant See cases [RCV001196286] Chr17:77490792 [GRCh38]
Chr17:75486874 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) single nucleotide variant not provided [RCV000933682] Chr17:77488260 [GRCh38]
Chr17:75484342 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*2C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122933] Chr17:77498660 [GRCh38]
Chr17:75494742 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126565] Chr17:77492705 [GRCh38]
Chr17:75488787 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*647G>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001127065] Chr17:77499305 [GRCh38]
Chr17:75495387 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*732G>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001127066] Chr17:77499390 [GRCh38]
Chr17:75495472 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1675C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001127181] Chr17:77500333 [GRCh38]
Chr17:75496415 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*647G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126674] Chr17:77499305 [GRCh38]
Chr17:75495387 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122816] Chr17:77482329 [GRCh38]
Chr17:75478411 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*15A>C single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122934] Chr17:77498673 [GRCh38]
Chr17:75494755 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.*904G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123035] Chr17:77499562 [GRCh38]
Chr17:75495644 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001122815] Chr17:77482224 [GRCh38]
Chr17:75478306 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.*1832A>G single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123113] Chr17:77500490 [GRCh38]
Chr17:75496572 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001126465] Chr17:77402128 [GRCh38]
Chr17:75398210 [GRCh37]
Chr17:17q25.3
likely benign
NM_001113491.2(SEPTIN9):c.*959G>A single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001124104] Chr17:77499617 [GRCh38]
Chr17:75495699 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys) single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001128626] Chr17:77498596 [GRCh38]
Chr17:75494678 [GRCh37]
Chr17:17q25.3
benign
NM_001113491.2(SEPTIN9):c.1124+8C>T single nucleotide variant Amyotrophy, hereditary neuralgic [RCV001123903] Chr17:77488329 [GRCh38]
Chr17:75484411 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys) single nucleotide variant not provided [RCV001256031] Chr17:77488821 [GRCh38]
Chr17:75484903 [GRCh37]
Chr17:17q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7323 AgrOrtholog
COSMIC SEPTIN9 COSMIC
Ensembl Genes ENSG00000184640 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282302 UniProtKB/TrEMBL
Ensembl Protein ENSP00000329161 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391249 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403194 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405877 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406987 UniProtKB/Swiss-Prot
  ENSP00000438089 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464832 UniProtKB/TrEMBL
  ENSP00000465026 UniProtKB/TrEMBL
  ENSP00000465332 UniProtKB/TrEMBL
  ENSP00000465415 UniProtKB/TrEMBL
  ENSP00000465904 UniProtKB/TrEMBL
  ENSP00000466164 UniProtKB/TrEMBL
  ENSP00000466170 UniProtKB/TrEMBL
  ENSP00000466201 UniProtKB/TrEMBL
  ENSP00000466247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466684 UniProtKB/TrEMBL
  ENSP00000466997 UniProtKB/TrEMBL
  ENSP00000467619 UniProtKB/TrEMBL
  ENSP00000467780 UniProtKB/TrEMBL
  ENSP00000467792 UniProtKB/TrEMBL
  ENSP00000467908 UniProtKB/TrEMBL
  ENSP00000468090 UniProtKB/TrEMBL
  ENSP00000468110 UniProtKB/TrEMBL
  ENSP00000468120 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468406 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468410 UniProtKB/TrEMBL
  ENSP00000468504 UniProtKB/TrEMBL
  ENSP00000468668 UniProtKB/Swiss-Prot
  ENSP00000487985 UniProtKB/TrEMBL
  ENSP00000488513 UniProtKB/TrEMBL
  ENSP00000502589 UniProtKB/TrEMBL
  ENSP00000504196 ENTREZGENE
Ensembl Transcript ENST00000329047 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423034 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427177 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427180 ENTREZGENE
  ENST00000427674 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431235 UniProtKB/Swiss-Prot
  ENST00000449803 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541152 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585929 UniProtKB/TrEMBL
  ENST00000585930 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586128 UniProtKB/TrEMBL
  ENST00000586433 UniProtKB/TrEMBL
  ENST00000586521 UniProtKB/TrEMBL
  ENST00000588575 UniProtKB/TrEMBL
  ENST00000588690 UniProtKB/Swiss-Prot
  ENST00000588958 UniProtKB/TrEMBL
  ENST00000589070 UniProtKB/TrEMBL
  ENST00000589140 UniProtKB/TrEMBL
  ENST00000590059 UniProtKB/TrEMBL
  ENST00000590595 UniProtKB/TrEMBL
  ENST00000590917 UniProtKB/TrEMBL
  ENST00000590938 UniProtKB/TrEMBL
  ENST00000591020 UniProtKB/TrEMBL
  ENST00000591088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591472 UniProtKB/TrEMBL
  ENST00000591704 UniProtKB/TrEMBL
  ENST00000591833 UniProtKB/TrEMBL
  ENST00000591934 UniProtKB/TrEMBL
  ENST00000592481 UniProtKB/TrEMBL
  ENST00000592951 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593189 UniProtKB/TrEMBL
  ENST00000633211 UniProtKB/TrEMBL
  ENST00000633557 UniProtKB/TrEMBL
GTEx ENSG00000184640 GTEx
  ENSG00000282302 GTEx
HGNC ID HGNC:7323 ENTREZGENE
Human Proteome Map SEPTIN9 Human Proteome Map
InterPro G_SEPTIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEPT9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/TrEMBL
KEGG Report hsa:10801 UniProtKB/Swiss-Prot
NCBI Gene 10801 ENTREZGENE
OMIM 162100 OMIM
  604061 OMIM
PANTHER PTHR18884:SF47 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31132 PharmGKB
PIRSF Septin UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/TrEMBL
UniProt A0A0J9YWJ2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5A5 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PHC2_HUMAN UniProtKB/TrEMBL
  K7EIE4_HUMAN UniProtKB/TrEMBL
  K7EJ51_HUMAN UniProtKB/TrEMBL
  K7EJV0_HUMAN UniProtKB/TrEMBL
  K7EJZ2_HUMAN UniProtKB/TrEMBL
  K7EK18_HUMAN UniProtKB/TrEMBL
  K7EKN4_HUMAN UniProtKB/TrEMBL
  K7EL40_HUMAN UniProtKB/TrEMBL
  K7EMW8_HUMAN UniProtKB/TrEMBL
  K7EN52_HUMAN UniProtKB/TrEMBL
  K7ENL0_HUMAN UniProtKB/TrEMBL
  K7ENQ5_HUMAN UniProtKB/TrEMBL
  K7EPY1_HUMAN UniProtKB/TrEMBL
  K7EQ08_HUMAN UniProtKB/TrEMBL
  K7EQD7_HUMAN UniProtKB/TrEMBL
  K7ER14_HUMAN UniProtKB/TrEMBL
  K7ER34_HUMAN UniProtKB/TrEMBL
  K7ER52_HUMAN UniProtKB/TrEMBL
  Q9UHD8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K2V3 UniProtKB/Swiss-Prot
  B3KPM0 UniProtKB/Swiss-Prot
  B4DTL9 UniProtKB/Swiss-Prot
  B4E0N2 UniProtKB/Swiss-Prot
  B4E274 UniProtKB/Swiss-Prot
  B7Z654 UniProtKB/Swiss-Prot
  Q96QF3 UniProtKB/Swiss-Prot
  Q96QF4 UniProtKB/Swiss-Prot
  Q96QF5 UniProtKB/Swiss-Prot
  Q9HA04 UniProtKB/Swiss-Prot
  Q9UG40 UniProtKB/Swiss-Prot
  Q9Y5W4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN9  septin 9  SEPT9    Symbol and/or name change 5135510 APPROVED
2011-08-16 SEPT9  septin 9  SEPT9  septin 9  Symbol and/or name change 5135510 APPROVED