STX1B (syntaxin 1B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: STX1B (syntaxin 1B) Homo sapiens
Analyze
Symbol: STX1B
Name: syntaxin 1B
RGD ID: 736110
HGNC Page HGNC
Description: Predicted to enable SNAP receptor activity; SNARE binding activity; and protein kinase binding activity. Predicted to be involved in several processes, including exocytosis; modulation of chemical synaptic transmission; and negative regulation of cellular component organization. Located in centrosome; cytoplasm; and nuclear lumen. Implicated in generalized epilepsy with febrile seizures plus 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FP17469; GEFSP9; STX1B1; STX1B2; syntaxin 1B1; syntaxin 1B2; syntaxin-1B; syntaxin-1B1; syntaxin-1B2
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 Ensembl1630,989,256 - 31,010,638 (-)EnsemblGRCh38hg38GRCh38
GRCh381630,989,256 - 31,010,638 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,000,577 - 31,021,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,910,869 - 30,929,276 (-)NCBINCBI36hg18NCBI36
Build 341630,910,868 - 30,929,276NCBI
Celera1629,275,546 - 29,296,879 (+)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1628,563,033 - 28,574,857 (-)NCBIHuRef
CHM1_11632,317,577 - 32,338,829 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8105537   PMID:8884284   PMID:8999968   PMID:11112705   PMID:12093152   PMID:12477932   PMID:12651853   PMID:15489334   PMID:17500595   PMID:18691641   PMID:21873635   PMID:22360420  
PMID:24885147   PMID:25064009   PMID:25101798   PMID:25362483   PMID:25534083   PMID:26186194   PMID:26224037   PMID:26751406   PMID:27740732   PMID:28514442   PMID:28855684   PMID:29101845  
PMID:30378543   PMID:30737342   PMID:30880162   PMID:31586073   PMID:32296183   PMID:33677401  


Genomics

Comparative Map Data
STX1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1630,989,256 - 31,010,638 (-)EnsemblGRCh38hg38GRCh38
GRCh381630,989,256 - 31,010,638 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,000,577 - 31,021,959 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,910,869 - 30,929,276 (-)NCBINCBI36hg18NCBI36
Build 341630,910,868 - 30,929,276NCBI
Celera1629,275,546 - 29,296,879 (+)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1628,563,033 - 28,574,857 (-)NCBIHuRef
CHM1_11632,317,577 - 32,338,829 (-)NCBICHM1_1
Stx1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,403,072 - 127,423,703 (-)NCBIGRCm39mm39
GRCm39 Ensembl7127,403,072 - 127,423,721 (-)Ensembl
GRCm387127,803,900 - 127,824,531 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,803,900 - 127,824,549 (-)EnsemblGRCm38mm10GRCm38
MGSCv377134,950,358 - 134,968,045 (-)NCBIGRCm37mm9NCBIm37
MGSCv367127,598,364 - 127,615,438 (-)NCBImm8
Celera7127,641,815 - 127,659,486 (-)NCBICelera
Cytogenetic Map7F3NCBI
Stx1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21182,415,544 - 182,434,385 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1182,415,546 - 182,441,280 (-)Ensembl
Rnor_6.01199,251,842 - 199,270,465 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,251,844 - 199,270,627 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,276,724 - 206,292,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,092,014 - 187,108,481 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11187,239,062 - 187,258,524 (-)NCBI
Celera1180,069,042 - 180,085,214 (-)NCBICelera
Cytogenetic Map1q37NCBI
Stx1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,838,684 - 7,857,700 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,838,684 - 7,857,700 (-)NCBIChiLan1.0ChiLan1.0
STX1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11631,356,907 - 31,378,864 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,356,907 - 31,378,870 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01623,956,426 - 23,979,646 (+)NCBIMhudiblu_PPA_v0panPan3
STX1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,209,972 - 17,219,903 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,210,433 - 17,241,363 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,777,682 - 18,795,209 (+)NCBI
ROS_Cfam_1.0617,332,948 - 17,350,471 (+)NCBI
UMICH_Zoey_3.1617,133,312 - 17,150,823 (+)NCBI
UNSW_CanFamBas_1.0617,052,453 - 17,069,975 (+)NCBI
UU_Cfam_GSD_1.0617,364,988 - 17,382,509 (+)NCBI
Stx1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,272,960 - 125,280,193 (-)NCBI
SpeTri2.0NW_00493650113,370,678 - 13,378,933 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STX1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,439,581 - 17,459,516 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,439,563 - 17,459,517 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,848,121 - 17,856,072 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STX1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,683,526 - 27,702,032 (-)NCBI
ChlSab1.1 Ensembl527,684,082 - 27,694,814 (-)Ensembl
Vero_WHO_p1.0NW_0236660681,769,965 - 1,788,800 (+)NCBI
Stx1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478214,054,762 - 14,073,890 (-)NCBI

Position Markers
RH12292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,000,684 - 31,000,858UniSTSGRCh37
Build 361630,908,185 - 30,908,359RGDNCBI36
Celera1629,296,598 - 29,296,772RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,563,140 - 28,563,290UniSTS
RH28513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,001,004 - 31,001,077UniSTSGRCh37
Build 361630,908,505 - 30,908,578RGDNCBI36
Celera1629,296,379 - 29,296,452RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,563,436 - 28,563,509UniSTS
RH78319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,000,277 - 31,000,439UniSTSGRCh37
Build 361630,907,778 - 30,907,940RGDNCBI36
Celera1629,297,017 - 29,297,179RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,562,733 - 28,562,895UniSTS
RH70099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,000,685 - 31,000,913UniSTSGRCh37
Build 361630,908,186 - 30,908,414RGDNCBI36
Celera1629,296,543 - 29,296,771RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,563,141 - 28,563,345UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5171
Count of miRNA genes:1037
Interacting mature miRNAs:1275
Transcripts:ENST00000215095, ENST00000561836, ENST00000565419, ENST00000566211, ENST00000569638
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 163 4 15 4 88 9 2654 8 140 23 1
Low 2287 2017 1471 599 1192 442 3596 1341 1058 302 1221 1396 170 1 1195 2183 1
Below cutoff 134 965 89 19 721 18 667 840 15 88 84 184 2 9 604 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC135048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI084152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY995211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX102270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D37933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY332651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000215095   ⟹   ENSP00000215095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1630,989,256 - 31,010,638 (-)Ensembl
RefSeq Acc Id: ENST00000565419   ⟹   ENSP00000455899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1630,993,082 - 31,010,396 (-)Ensembl
RefSeq Acc Id: ENST00000566211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1630,996,199 - 30,997,044 (-)Ensembl
RefSeq Acc Id: NM_052874   ⟹   NP_443106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,989,256 - 31,010,638 (-)NCBI
GRCh371631,000,577 - 31,021,829 (-)RGD
Build 361630,910,869 - 30,929,276 (-)NCBI Archive
Celera1629,275,546 - 29,296,879 (+)RGD
HuRef1628,563,033 - 28,574,857 (-)RGD
CHM1_11632,317,577 - 32,338,959 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022893   ⟹   XP_016878382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,989,256 - 31,001,960 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443106   ⟸   NM_052874
- UniProtKB: P61266 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878382   ⟸   XM_017022893
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000215095   ⟸   ENST00000215095
RefSeq Acc Id: ENSP00000455899   ⟸   ENST00000565419
Promoters
RGD ID:7232047
Promoter ID:EPDNEW_H21769
Type:initiation region
Name:STX1B_1
Description:syntaxin 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,010,638 - 31,010,698EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_052874.5(STX1B):c.715T>C (p.Ser239Pro) single nucleotide variant not provided [RCV000519620] Chr16:30993201 [GRCh38]
Chr16:31004522 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.503T>C (p.Leu168Pro) single nucleotide variant not provided [RCV000520354] Chr16:30996717 [GRCh38]
Chr16:31008038 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.787-3C>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001303179] Chr16:30992904 [GRCh38]
Chr16:31004225 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.133_134insGGATGTGCATTG (p.Lys45delinsArgMetCysIleGlu) insertion Generalized epilepsy with febrile seizures plus, type 9 [RCV000149791] Chr16:31001165..31001166 [GRCh38]
Chr16:31012486..31012487 [GRCh37]
Chr16:16p11.2
pathogenic|not provided
NM_052874.5(STX1B):c.140C>A (p.Ser47Ter) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000149792]|Neurodevelopmental disorder [RCV001374902] Chr16:31001159 [GRCh38]
Chr16:31012480 [GRCh37]
Chr16:16p11.2
pathogenic|not provided
NM_052874.5(STX1B):c.320G>A (p.Arg107His) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001312844] Chr16:30997536 [GRCh38]
Chr16:31008857 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.786+5G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001349208] Chr16:30993125 [GRCh38]
Chr16:31004446 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.280+3G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001302985] Chr16:31000925 [GRCh38]
Chr16:31012246 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1
pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1 copy number loss See cases [RCV000139523] Chr16:30960404..31066796 [GRCh38]
Chr16:30971725..31078117 [GRCh37]
Chr16:30879226..30985618 [NCBI36]
Chr16:16p11.2
likely benign
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
NM_052874.5(STX1B):c.676G>C (p.Gly226Arg) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000149794] Chr16:30993240 [GRCh38]
Chr16:31004561 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.166C>T (p.Gln56Ter) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000149790] Chr16:31001133 [GRCh38]
Chr16:31012454 [GRCh37]
Chr16:16p11.2
pathogenic|not provided
NM_052874.5(STX1B):c.647T>A (p.Val216Glu) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000149793] Chr16:30993375 [GRCh38]
Chr16:31004696 [GRCh37]
Chr16:16p11.2
pathogenic|not provided
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3 copy number gain Ductal breast carcinoma [RCV000207028] Chr16:30391304..31122666 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
NM_052874.5(STX1B):c.538-5C>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001085954]|Seizures [RCV000717592]|not provided [RCV000713549] Chr16:30993489 [GRCh38]
Chr16:31004810 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001086762]|Inborn genetic diseases [RCV001266669]|not provided [RCV000255888] Chr16:30992843 [GRCh38]
Chr16:31004164 [GRCh37]
Chr16:16p11.2
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052874.5(STX1B):c.852G>A (p.Gly284=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000525448]|Seizures [RCV000717531] Chr16:30992836 [GRCh38]
Chr16:31004157 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.786+6C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000551539] Chr16:30993124 [GRCh38]
Chr16:31004445 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.58del (p.Val20fs) deletion not provided [RCV000379006] Chr16:31001576 [GRCh38]
Chr16:31012897 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.431G>T (p.Cys144Phe) single nucleotide variant Inborn genetic diseases [RCV000624403] Chr16:30996983 [GRCh38]
Chr16:31008304 [GRCh37]
Chr16:16p11.2
likely pathogenic
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.(?_30992801)_(31068051_?)del deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV000558002] Chr16:30992801..31068051 [GRCh38]
Chr16:31004122..31079372 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1 copy number loss See cases [RCV000446201] Chr16:30943854..31171177 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_052874.5(STX1B):c.755A>T (p.Lys252Ile) single nucleotide variant not provided [RCV000435289] Chr16:30993161 [GRCh38]
Chr16:31004482 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.215A>G (p.Gln72Arg) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001221313]|not provided [RCV000429232] Chr16:31000993 [GRCh38]
Chr16:31012314 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1 copy number loss See cases [RCV000511906] Chr16:30952806..31177641 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1 copy number loss See cases [RCV000511454] Chr16:30607048..31117069 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_052874.5(STX1B):c.609G>A (p.Lys203=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000558195] Chr16:30993413 [GRCh38]
Chr16:31004734 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.96C>A (p.Phe32Leu) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000540305]|not provided [RCV001558024] Chr16:31001538 [GRCh38]
Chr16:31012859 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_052874.5(STX1B):c.75G>A (p.Arg25=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000536654] Chr16:31001559 [GRCh38]
Chr16:31012880 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.463A>G (p.Thr155Ala) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652472] Chr16:30996951 [GRCh38]
Chr16:31008272 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.837G>A (p.Ala279=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001080423]|Seizures [RCV000718235]|not provided [RCV000713552] Chr16:30992851 [GRCh38]
Chr16:31004172 [GRCh37]
Chr16:16p11.2
benign|likely benign
NM_052874.5(STX1B):c.355-8C>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652474] Chr16:30997067 [GRCh38]
Chr16:31008388 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.426C>T (p.Asp142=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652475] Chr16:30996988 [GRCh38]
Chr16:31008309 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.513G>C (p.Gly171=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652476] Chr16:30996707 [GRCh38]
Chr16:31008028 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.355-5C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652477] Chr16:30997064 [GRCh38]
Chr16:31008385 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.60G>T (p.Val20=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652478] Chr16:31001574 [GRCh38]
Chr16:31012895 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.108G>A (p.Val36=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652479]|not provided [RCV001564396] Chr16:31001191 [GRCh38]
Chr16:31012512 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_052874.5(STX1B):c.33G>A (p.Ala11=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000652480] Chr16:31001601 [GRCh38]
Chr16:31012922 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.105+10C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001087545]|not provided [RCV000536442] Chr16:31001519 [GRCh38]
Chr16:31012840 [GRCh37]
Chr16:16p11.2
benign|likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_052874.5(STX1B):c.463+6T>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000698071] Chr16:30996945 [GRCh38]
Chr16:31008266 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_052874.5(STX1B):c.537+2T>A single nucleotide variant not provided [RCV000658021] Chr16:30996681 [GRCh38]
Chr16:31008002 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.840A>G (p.Ser280=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001515462]|Seizures [RCV000715323]|not provided [RCV000713553] Chr16:30992848 [GRCh38]
Chr16:31004169 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.35_36dup (p.Asp13fs) duplication Generalized epilepsy with febrile seizures plus, type 9 [RCV000687171] Chr16:31001597..31001598 [GRCh38]
Chr16:31012918..31012919 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.782G>A (p.Arg261Gln) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000692119] Chr16:30993134 [GRCh38]
Chr16:31004455 [GRCh37]
Chr16:16p11.2
likely benign|uncertain significance
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro) single nucleotide variant not provided [RCV000709919] Chr16:30993180 [GRCh38]
Chr16:31004501 [GRCh37]
Chr16:16p11.2
not provided
NM_052874.5(STX1B):c.828G>A (p.Val276=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001512923]|not provided [RCV000690279] Chr16:30992860 [GRCh38]
Chr16:31004181 [GRCh37]
Chr16:16p11.2
benign|uncertain significance
NM_052874.5(STX1B):c.538-7A>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001517911]|not provided [RCV000713550] Chr16:30993491 [GRCh38]
Chr16:31004812 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.786+7G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001081590]|not provided [RCV000713551] Chr16:30993123 [GRCh38]
Chr16:31004444 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.186C>T (p.Ala62=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001430237]|Seizures [RCV000719211] Chr16:31001113 [GRCh38]
Chr16:31012434 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001386179]|Seizures [RCV000720644] Chr16:30993183 [GRCh38]
Chr16:31004504 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.106-2A>G single nucleotide variant Seizures [RCV000720251] Chr16:31001195 [GRCh38]
Chr16:31012516 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_052874.5(STX1B):c.*174C>T single nucleotide variant not provided [RCV001571249] Chr16:30992647 [GRCh38]
Chr16:31003968 [GRCh37]
Chr16:16p11.2
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.865T>C (p.Ter289Gln) single nucleotide variant not provided [RCV001531852] Chr16:30992823 [GRCh38]
Chr16:31004144 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.394G>T (p.Glu132Ter) single nucleotide variant not provided [RCV000760947] Chr16:30997020 [GRCh38]
Chr16:31008341 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.783G>A (p.Arg261=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001087998]|not provided [RCV000761933] Chr16:30993133 [GRCh38]
Chr16:31004454 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.713A>G (p.His238Arg) single nucleotide variant not provided [RCV000761934] Chr16:30993203 [GRCh38]
Chr16:31004524 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.62T>C (p.Val21Ala) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001045252] Chr16:31001572 [GRCh38]
Chr16:31012893 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.48T>C (p.Asp16=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000950340] Chr16:31001586 [GRCh38]
Chr16:31012907 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.112G>C (p.Glu38Gln) single nucleotide variant not provided [RCV000902453] Chr16:31001187 [GRCh38]
Chr16:31012508 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.780C>G (p.Ala260=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000881768]|not provided [RCV001546548] Chr16:30993136 [GRCh38]
Chr16:31004457 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.587C>T (p.Thr196Met) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001035790] Chr16:30993435 [GRCh38]
Chr16:31004756 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.833T>C (p.Leu278Ser) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001053910] Chr16:30992855 [GRCh38]
Chr16:31004176 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.463+1G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001057535] Chr16:30996950 [GRCh38]
Chr16:31008271 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.163A>C (p.Lys55Gln) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000792923] Chr16:31001136 [GRCh38]
Chr16:31012457 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.538-8_538-7inv inversion Generalized epilepsy with febrile seizures plus, type 9 [RCV001413167]|not provided [RCV000978029] Chr16:30993491..30993492 [GRCh38]
Chr16:31004812..31004813 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.355-7A>C single nucleotide variant not provided [RCV000945950] Chr16:30997066 [GRCh38]
Chr16:31008387 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.464-7C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001463551]|not provided [RCV000928882] Chr16:30996763 [GRCh38]
Chr16:31008084 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.848G>T (p.Gly283Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000809555] Chr16:30992840 [GRCh38]
Chr16:31004161 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.845T>A (p.Ile282Asn) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000822769] Chr16:30992843 [GRCh38]
Chr16:31004164 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.463+3G>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000819732] Chr16:30996948 [GRCh38]
Chr16:31008269 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.463+5G>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000799391] Chr16:30996946 [GRCh38]
Chr16:31008267 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.1A>G (p.Met1Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000800383] Chr16:31010396 [GRCh38]
Chr16:31021717 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.355-4G>C single nucleotide variant not provided [RCV000960414] Chr16:30997063 [GRCh38]
Chr16:31008384 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.595A>G (p.Asn199Asp) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000809934] Chr16:30993427 [GRCh38]
Chr16:31004748 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1 copy number loss not provided [RCV000848082] Chr16:30851860..31156762 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.354+1G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000800861] Chr16:30997501 [GRCh38]
Chr16:31008822 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.404del (p.Ala135fs) deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV000814402] Chr16:30997010 [GRCh38]
Chr16:31008331 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.463+4C>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001067124] Chr16:30996947 [GRCh38]
Chr16:31008268 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.841T>C (p.Ser281Pro) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000812815] Chr16:30992847 [GRCh38]
Chr16:31004168 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.10:g.(?_31000908)_(31001623_?)del deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV000818557] Chr16:31000908..31001623 [GRCh38]
Chr16:31012229..31012944 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000812767] Chr16:30992865 [GRCh38]
Chr16:31004186 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.533A>G (p.Asp178Gly) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000814666] Chr16:30996687 [GRCh38]
Chr16:31008008 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.785G>A (p.Arg262Lys) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001069050] Chr16:30993131 [GRCh38]
Chr16:31004452 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.1A>T (p.Met1Leu) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001065850] Chr16:31010396 [GRCh38]
Chr16:31021717 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.553_554del (p.Gln185fs) microsatellite not provided [RCV001008973] Chr16:30993468..30993469 [GRCh38]
Chr16:31004789..31004790 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.712C>A (p.His238Asn) single nucleotide variant not provided [RCV001171911] Chr16:30993204 [GRCh38]
Chr16:31004525 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.676-2A>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001237819] Chr16:30993242 [GRCh38]
Chr16:31004563 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.251C>T (p.Thr84Met) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001224736] Chr16:31000957 [GRCh38]
Chr16:31012278 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs) indel Generalized epilepsy with febrile seizures plus, type 9 [RCV001243161] Chr16:31000951..31000956 [GRCh38]
Chr16:31012272..31012277 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV000989596] Chr16:30993228..30993230 [GRCh38]
Chr16:31004549..31004551 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000995653] Chr16:30997563 [GRCh38]
Chr16:31008884 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.165dup (p.Gln56fs) duplication Generalized epilepsy with febrile seizures plus, type 9 [RCV000995654] Chr16:31001133..31001134 [GRCh38]
Chr16:31012454..31012455 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.31-208A>G single nucleotide variant not provided [RCV001556885] Chr16:31001811 [GRCh38]
Chr16:31013132 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.312G>T (p.Gly104=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000921001] Chr16:30997544 [GRCh38]
Chr16:31008865 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.575A>G (p.Asn192Ser) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000931308] Chr16:30993447 [GRCh38]
Chr16:31004768 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.861C>T (p.Gly287=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000887591] Chr16:30992827 [GRCh38]
Chr16:31004148 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.696C>T (p.Ile232=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001481951]|not provided [RCV000977684] Chr16:30993220 [GRCh38]
Chr16:31004541 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.171T>C (p.His57=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001480870]|not provided [RCV000954158] Chr16:31001128 [GRCh38]
Chr16:31012449 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.205+2_205+3del deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001235757] Chr16:31001091..31001092 [GRCh38]
Chr16:31012412..31012413 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.32C>T (p.Ala11Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001239701] Chr16:31001602 [GRCh38]
Chr16:31012923 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.734G>A (p.Arg245Gln) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001069433] Chr16:30993182 [GRCh38]
Chr16:31004503 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.852del (p.Thr285fs) deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001237641] Chr16:30992836 [GRCh38]
Chr16:31004157 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.408C>G (p.Thr136=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV000912715] Chr16:30997006 [GRCh38]
Chr16:31008327 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.855G>A (p.Thr285=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001474215]|not provided [RCV000935319] Chr16:30992833 [GRCh38]
Chr16:31004154 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.105+69C>T single nucleotide variant not provided [RCV001538798] Chr16:31001460 [GRCh38]
Chr16:31012781 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.382del (p.Glu128fs) deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001004736] Chr16:30997032 [GRCh38]
Chr16:31008353 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.26G>A (p.Arg9Gln) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001069504] Chr16:31010371 [GRCh38]
Chr16:31021692 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.281-68G>A single nucleotide variant not provided [RCV001545805] Chr16:30997643 [GRCh38]
Chr16:31008964 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.67G>A (p.Val23Met) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001201685] Chr16:31001567 [GRCh38]
Chr16:31012888 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.106-1G>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001039659] Chr16:31001194 [GRCh38]
Chr16:31012515 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.691C>T (p.Arg231Cys) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001058025] Chr16:30993225 [GRCh38]
Chr16:31004546 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.281-41_294del deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001234177] Chr16:30997562..30997616 [GRCh38]
Chr16:31008883..31008937 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.344G>C (p.Arg115Pro) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001216153] Chr16:30997512 [GRCh38]
Chr16:31008833 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.852dup (p.Thr285fs) duplication Generalized epilepsy with febrile seizures plus, type 9 [RCV001235298] Chr16:30992835..30992836 [GRCh38]
Chr16:31004156..31004157 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.268T>G (p.Ser90Ala) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001230489] Chr16:31000940 [GRCh38]
Chr16:31012261 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.538-8C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001196306] Chr16:30993492 [GRCh38]
Chr16:31004813 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.637G>A (p.Asp213Asn) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001056829] Chr16:30993385 [GRCh38]
Chr16:31004706 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.187G>T (p.Ala63Ser) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001056957]|not provided [RCV001311444] Chr16:31001112 [GRCh38]
Chr16:31012433 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.205+6T>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001063827] Chr16:31001088 [GRCh38]
Chr16:31012409 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:30973518-31001721)x1 copy number loss not provided [RCV001258623] Chr16:30973518..31001721 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.773G>A (p.Ser258Asn) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001367467]|Inborn genetic diseases [RCV001265705] Chr16:30993143 [GRCh38]
Chr16:31004464 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter) single nucleotide variant Inborn genetic diseases [RCV001265827] Chr16:30993148 [GRCh38]
Chr16:31004469 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.16C>G (p.Gln6Glu) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001301266] Chr16:31010381 [GRCh38]
Chr16:31021702 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.31-6C>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001320412] Chr16:31001609 [GRCh38]
Chr16:31012930 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.35A>G (p.Lys12Arg) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001301910] Chr16:31001599 [GRCh38]
Chr16:31012920 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.548A>T (p.Asp183Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001308795] Chr16:30993474 [GRCh38]
Chr16:31004795 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.774C>T (p.Ser258=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001297321] Chr16:30993142 [GRCh38]
Chr16:31004463 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.205+5G>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001349116] Chr16:31001089 [GRCh38]
Chr16:31012410 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.378C>T (p.Phe126=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001415443] Chr16:30997036 [GRCh38]
Chr16:31008357 [GRCh37]
Chr16:16p11.2
likely benign
NC_000016.9:g.(?_31003278_31004694del deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001363029]   uncertain significance
NM_052874.5(STX1B):c.448C>A (p.Arg150=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001415012] Chr16:30996966 [GRCh38]
Chr16:31008287 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.828G>T (p.Val276=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001394642] Chr16:30992860 [GRCh38]
Chr16:31004181 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.663C>T (p.Leu221=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001422571] Chr16:30993359 [GRCh38]
Chr16:31004680 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.334del (p.Leu112fs) deletion Generalized epilepsy with febrile seizures plus, type 9 [RCV001382769] Chr16:30997522 [GRCh38]
Chr16:31008843 [GRCh37]
Chr16:16p11.2
pathogenic
NM_052874.5(STX1B):c.274T>C (p.Leu92=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001433203] Chr16:31000934 [GRCh38]
Chr16:31012255 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.178A>G (p.Ile60Val) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001321748] Chr16:31001121 [GRCh38]
Chr16:31012442 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.280G>A (p.Ala94Thr) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001317811] Chr16:31000928 [GRCh38]
Chr16:31012249 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.428G>A (p.Arg143His) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001347639] Chr16:30996986 [GRCh38]
Chr16:31008307 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.103C>A (p.Gln35Lys) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001298592]|not provided [RCV001547050] Chr16:31001531 [GRCh38]
Chr16:31012852 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.311G>A (p.Gly104Glu) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001315247] Chr16:30997545 [GRCh38]
Chr16:31008866 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.572T>C (p.Leu191Pro) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001323767] Chr16:30993450 [GRCh38]
Chr16:31004771 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.*4C>A single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001335311] Chr16:30992817 [GRCh38]
Chr16:31004138 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.*9C>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001335312] Chr16:30992812 [GRCh38]
Chr16:31004133 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.628G>A (p.Glu210Lys) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001299778] Chr16:30993394 [GRCh38]
Chr16:31004715 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.319C>T (p.Arg107Cys) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001365477] Chr16:30997537 [GRCh38]
Chr16:31008858 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.692G>A (p.Arg231His) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001308036] Chr16:30993224 [GRCh38]
Chr16:31004545 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_052874.5(STX1B):c.627C>T (p.Arg209=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001454519] Chr16:30993395 [GRCh38]
Chr16:31004716 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.206-6C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001417224] Chr16:31001008 [GRCh38]
Chr16:31012329 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.741G>C (p.Val247=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001468687] Chr16:30993175 [GRCh38]
Chr16:31004496 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.786+9G>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001484655] Chr16:30993121 [GRCh38]
Chr16:31004442 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.864G>A (p.Leu288=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001402675] Chr16:30992824 [GRCh38]
Chr16:31004145 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.849G>C (p.Gly283=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001497398] Chr16:30992839 [GRCh38]
Chr16:31004160 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.281-7C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001491678] Chr16:30997582 [GRCh38]
Chr16:31008903 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.726C>T (p.Tyr242=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001487250] Chr16:30993190 [GRCh38]
Chr16:31004511 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.464-5C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001472494] Chr16:30996761 [GRCh38]
Chr16:31008082 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.206-5C>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001402238] Chr16:31001007 [GRCh38]
Chr16:31012328 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.537+2T>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001377141] Chr16:30996681 [GRCh38]
Chr16:31008002 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.281-2A>C single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001379658] Chr16:30997577 [GRCh38]
Chr16:31008898 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_052874.5(STX1B):c.*171_*172insGC insertion not provided [RCV001565018] Chr16:30992649..30992650 [GRCh38]
Chr16:31003970..31003971 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.252G>A (p.Thr84=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001448568] Chr16:31000956 [GRCh38]
Chr16:31012277 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.281-9C>T single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001516456] Chr16:30997584 [GRCh38]
Chr16:31008905 [GRCh37]
Chr16:16p11.2
benign
NM_052874.5(STX1B):c.636C>T (p.His212=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001460103] Chr16:30993386 [GRCh38]
Chr16:31004707 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.627C>G (p.Arg209=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001496821] Chr16:30993395 [GRCh38]
Chr16:31004716 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.198A>C (p.Pro66=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001418449] Chr16:31001101 [GRCh38]
Chr16:31012422 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.862T>C (p.Leu288=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001504126] Chr16:30992826 [GRCh38]
Chr16:31004147 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.237A>G (p.Ala79=) single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001441464] Chr16:31000971 [GRCh38]
Chr16:31012292 [GRCh37]
Chr16:16p11.2
likely benign
NM_052874.5(STX1B):c.355-2A>G single nucleotide variant Generalized epilepsy with febrile seizures plus, type 9 [RCV001377658] Chr16:30997061 [GRCh38]
Chr16:31008382 [GRCh37]
Chr16:16p11.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18539 AgrOrtholog
COSMIC STX1B COSMIC
Ensembl Genes ENSG00000099365 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000215095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000455899 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000215095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000565419 UniProtKB/Swiss-Prot
GTEx ENSG00000099365 GTEx
HGNC ID HGNC:18539 ENTREZGENE
Human Proteome Map STX1B Human Proteome Map
InterPro SNARE UniProtKB/Swiss-Prot
  STX1 UniProtKB/Swiss-Prot
  Syntaxin/epimorphin_CS UniProtKB/Swiss-Prot
  Syntaxin_N UniProtKB/Swiss-Prot
  T_SNARE_dom UniProtKB/Swiss-Prot
KEGG Report hsa:112755 UniProtKB/Swiss-Prot
NCBI Gene 112755 ENTREZGENE
OMIM 601485 OMIM
  616172 OMIM
PANTHER PTHR19957:SF334 UniProtKB/Swiss-Prot
Pfam SNARE UniProtKB/Swiss-Prot
  Syntaxin UniProtKB/Swiss-Prot
PharmGKB PA38345 PharmGKB
PROSITE SYNTAXIN UniProtKB/Swiss-Prot
  T_SNARE UniProtKB/Swiss-Prot
SMART SynN UniProtKB/Swiss-Prot
  t_SNARE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47661 UniProtKB/Swiss-Prot
UniProt P61266 ENTREZGENE
  Q15531
  STX1B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q15531 UniProtKB/Swiss-Prot
  Q2VPS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 STX1B  syntaxin 1B  STX1B1  syntaxin 1B1  Data Merged 737654 PROVISIONAL