TSNARE1 (t-SNARE domain containing 1) - Rat Genome Database

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Gene: TSNARE1 (t-SNARE domain containing 1) Homo sapiens
Analyze
Symbol: TSNARE1
Name: t-SNARE domain containing 1
RGD ID: 1606429
HGNC Page HGNC
Description: Predicted to have SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to localize to SNARE complex; endomembrane system; and integral component of membrane; INTERACTS WITH 4,4'-sulfonyldiphenol; acrolein; acrylamide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ31164; MGC142116; t-SNARE domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl8142,212,080 - 142,403,182 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,212,080 - 142,403,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,293,441 - 143,484,543 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,291,348 - 143,482,444 (-)NCBINCBI36hg18NCBI36
Celera8139,601,738 - 139,745,075 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,547,698 - 138,692,329 (-)NCBIHuRef
CHM1_18143,333,566 - 143,524,844 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:21873635   PMID:23974872   PMID:24166486   PMID:24623722   PMID:25056061   PMID:25471352   PMID:26186194   PMID:28514442   PMID:28611215  
PMID:32296183  


Genomics

Comparative Map Data
TSNARE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,212,080 - 142,403,182 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,212,080 - 142,403,291 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,293,441 - 143,484,543 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,291,348 - 143,482,444 (-)NCBINCBI36hg18NCBI36
Celera8139,601,738 - 139,745,075 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,547,698 - 138,692,329 (-)NCBIHuRef
CHM1_18143,333,566 - 143,524,844 (-)NCBICHM1_1
Gm32168
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,284,971 - 74,359,495 (-)NCBIGRCm39mm39
GRCm381574,413,122 - 74,487,646 (-)NCBIGRCm38GRCm38mm10GRCm38
Celera1575,913,214 - 75,983,612 (-)NCBICelera
Cytogenetic Map15D3NCBI
Tsnare1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,226,056 - 106,407,308 (-)NCBI
Rnor_6.07115,576,084 - 115,662,590 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera7102,629,764 - 102,716,076 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tsnare1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955454743,022 - 1,203,483 (-)NCBIChiLan1.0ChiLan1.0
TSNARE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,025,447 - 142,159,754 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8141,984,665 - 142,120,129 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08138,936,002 - 139,105,279 (-)NCBIMhudiblu_PPA_v0panPan3
TSNARE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,454,437 - 36,588,372 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1336,443,124 - 36,588,387 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,310,834 - 36,456,979 (-)NCBI
ROS_Cfam_1.01336,837,684 - 36,983,696 (-)NCBI
UMICH_Zoey_3.11336,557,091 - 36,702,598 (-)NCBI
UNSW_CanFamBas_1.01336,647,062 - 36,792,795 (-)NCBI
UU_Cfam_GSD_1.01337,111,235 - 37,214,538 (-)NCBI
Tsnare1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,946,605 - 2,039,920 (+)NCBI
SpeTri2.0NW_0049364709,396,546 - 9,466,019 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSNARE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,686,530 - 1,805,284 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,687,988 - 1,815,634 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TSNARE1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,510,458 - 136,646,911 (-)NCBI

Position Markers
D8S161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,446,890 - 143,447,042UniSTSGRCh37
Build 368143,444,797 - 143,444,949RGDNCBI36
Celera8139,755,957 - 139,756,109RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,702,971 - 138,703,125UniSTS
SHGC-148192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,335,398 - 143,335,741UniSTSGRCh37
Build 368143,333,305 - 143,333,648RGDNCBI36
Cytogenetic Map8q24.3UniSTS
HuRef8138,589,275 - 138,589,618UniSTS
SHGC-148956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,457,383 - 143,457,730UniSTSGRCh37
Build 368143,455,290 - 143,455,637RGDNCBI36
Celera8139,766,706 - 139,767,053RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,713,467 - 138,713,814UniSTS
D15S187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,298,565 - 143,298,778UniSTSGRCh37
Build 368143,296,472 - 143,296,685RGDNCBI36
Celera8139,606,880 - 139,607,061RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,552,798 - 138,552,979UniSTS
Marshfield Genetic Map8164.31UniSTS
SHGC-149162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,351,312 - 143,351,602UniSTSGRCh37
Build 368143,349,219 - 143,349,509RGDNCBI36
Celera8139,658,363 - 139,658,653RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,606,136 - 138,606,426UniSTS
SHGC-149212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,300,342 - 143,300,650UniSTSGRCh37
Build 368143,298,249 - 143,298,557RGDNCBI36
Celera8139,608,627 - 139,608,935RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,554,519 - 138,554,827UniSTS
SHGC-149474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,300,157 - 143,300,428UniSTSGRCh37
Build 368143,298,064 - 143,298,335RGDNCBI36
Celera8139,608,442 - 139,608,713RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,554,334 - 138,554,605UniSTS
SHGC-153754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,358,918 - 143,359,234UniSTSGRCh37
Build 368143,356,825 - 143,357,141RGDNCBI36
Celera8139,666,858 - 139,667,174RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,614,311 - 138,614,627UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2625
Count of miRNA genes:870
Interacting mature miRNAs:1046
Transcripts:ENST00000307180, ENST00000518720, ENST00000518928, ENST00000519651, ENST00000520166, ENST00000520462, ENST00000521825, ENST00000524325
Prediction methods:Microtar, 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 pharyngeal arch
High
Medium 920 954 961 116 583 46 2829 365 1492 134 1212 1145 74 329 1821
Low 1519 2018 764 507 1337 417 1528 1831 2241 285 247 468 100 1 875 967 6 2
Below cutoff 19 1 1 23 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001291931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC103758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI203371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF529741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX115133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA229159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY009343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY264564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307180   ⟹   ENSP00000303437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,212,081 - 142,403,182 (-)Ensembl
RefSeq Acc Id: ENST00000518720   ⟹   ENSP00000430789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,344,353 - 142,403,182 (-)Ensembl
RefSeq Acc Id: ENST00000518928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,300,116 - 142,326,225 (-)Ensembl
RefSeq Acc Id: ENST00000519651   ⟹   ENSP00000429679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,270,475 - 142,403,168 (-)Ensembl
RefSeq Acc Id: ENST00000520166   ⟹   ENSP00000427770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,212,167 - 142,354,763 (-)Ensembl
RefSeq Acc Id: ENST00000520462   ⟹   ENSP00000429626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,344,260 - 142,402,888 (-)Ensembl
RefSeq Acc Id: ENST00000521825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,271,567 - 142,279,997 (-)Ensembl
RefSeq Acc Id: ENST00000524325   ⟹   ENSP00000428763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,212,080 - 142,403,182 (-)Ensembl
RefSeq Acc Id: ENST00000662555   ⟹   ENSP00000499343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,274,781 - 142,354,724 (-)Ensembl
RefSeq Acc Id: NM_001291931   ⟹   NP_001278860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,455 - 142,403,182 (-)NCBI
CHM1_18143,391,285 - 143,524,844 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363740   ⟹   NP_001350669
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,212,080 - 142,403,182 (-)NCBI
RefSeq Acc Id: NM_001366901   ⟹   NP_001353830
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,212,080 - 142,403,182 (-)NCBI
RefSeq Acc Id: NM_001366902   ⟹   NP_001353831
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,299,868 - 142,403,182 (-)NCBI
RefSeq Acc Id: NM_001366903   ⟹   NP_001353832
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,299,868 - 142,403,182 (-)NCBI
RefSeq Acc Id: NM_001366904   ⟹   NP_001353833
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,455 - 142,403,182 (-)NCBI
RefSeq Acc Id: NM_145003   ⟹   NP_659440
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,212,080 - 142,403,182 (-)NCBI
GRCh378143,293,441 - 143,484,543 (-)NCBI
Build 368143,291,348 - 143,482,444 (-)NCBI Archive
Celera8139,601,738 - 139,745,075 (-)RGD
HuRef8138,547,698 - 138,692,329 (-)RGD
CHM1_18143,333,566 - 143,524,844 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516912   ⟹   XP_011515214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,403,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516913   ⟹   XP_011515215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,403,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516914   ⟹   XP_011515216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,402,888 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516915   ⟹   XP_011515217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,403,181 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516916   ⟹   XP_011515218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,403,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516917   ⟹   XP_011515219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,402,771 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516918   ⟹   XP_011515220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516919   ⟹   XP_011515221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,271,547 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516920   ⟹   XP_011515222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516921   ⟹   XP_011515223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,271,547 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516922   ⟹   XP_011515224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,280,331 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516923   ⟹   XP_011515225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,269,463 - 142,330,161 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516924   ⟹   XP_011515226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,328,903 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013175   ⟹   XP_016868664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,274,870 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013176   ⟹   XP_016868665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,212,120 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013179   ⟹   XP_016868668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,270,475 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013181   ⟹   XP_016868670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,300,677 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928307
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,274,780 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928308
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,271,605 - 142,354,763 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928309
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,271,605 - 142,354,763 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001278860 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350669 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353833 (Get FASTA)   NCBI Sequence Viewer  
  NP_659440 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515214 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515215 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515216 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515217 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515218 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515219 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515220 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515221 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515222 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515223 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515224 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515225 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515226 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868664 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868665 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868668 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868670 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65226 (Get FASTA)   NCBI Sequence Viewer  
  AAI13557 (Get FASTA)   NCBI Sequence Viewer  
  AAI26344 (Get FASTA)   NCBI Sequence Viewer  
  AAI43685 (Get FASTA)   NCBI Sequence Viewer  
  AAI43687 (Get FASTA)   NCBI Sequence Viewer  
  BAB70997 (Get FASTA)   NCBI Sequence Viewer  
  EAW82324 (Get FASTA)   NCBI Sequence Viewer  
  Q96NA8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_659440   ⟸   NM_145003
- Peptide Label: isoform a
- UniProtKB: Q96NA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278860   ⟸   NM_001291931
- Peptide Label: isoform b
- UniProtKB: E5RHT3 (UniProtKB/TrEMBL),   Q6P186 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515218   ⟸   XM_011516916
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515217   ⟸   XM_011516915
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515216   ⟸   XM_011516914
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515219   ⟸   XM_011516917
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515222   ⟸   XM_011516920
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011515220   ⟸   XM_011516918
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515215   ⟸   XM_011516913
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515214   ⟸   XM_011516912
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515225   ⟸   XM_011516923
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011515223   ⟸   XM_011516921
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011515221   ⟸   XM_011516919
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515224   ⟸   XM_011516922
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_011515226   ⟸   XM_011516924
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_016868665   ⟸   XM_017013176
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016868668   ⟸   XM_017013179
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016868664   ⟸   XM_017013175
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016868670   ⟸   XM_017013181
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: NP_001353830   ⟸   NM_001366901
- Peptide Label: isoform d
RefSeq Acc Id: NP_001350669   ⟸   NM_001363740
- Peptide Label: isoform c
RefSeq Acc Id: NP_001353833   ⟸   NM_001366904
- Peptide Label: isoform g
RefSeq Acc Id: NP_001353832   ⟸   NM_001366903
- Peptide Label: isoform f
RefSeq Acc Id: NP_001353831   ⟸   NM_001366902
- Peptide Label: isoform e
RefSeq Acc Id: ENSP00000303437   ⟸   ENST00000307180
RefSeq Acc Id: ENSP00000430789   ⟸   ENST00000518720
RefSeq Acc Id: ENSP00000499343   ⟸   ENST00000662555
RefSeq Acc Id: ENSP00000429679   ⟸   ENST00000519651
RefSeq Acc Id: ENSP00000429626   ⟸   ENST00000520462
RefSeq Acc Id: ENSP00000427770   ⟸   ENST00000520166
RefSeq Acc Id: ENSP00000428763   ⟸   ENST00000524325
Promoters
RGD ID:7214281
Promoter ID:EPDNEW_H12883
Type:initiation region
Name:TSNARE1_1
Description:t-SNARE domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12884  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,403,149 - 142,403,209EPDNEW
RGD ID:7214275
Promoter ID:EPDNEW_H12884
Type:initiation region
Name:TSNARE1_2
Description:t-SNARE domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12883  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,403,327 - 142,403,387EPDNEW
RGD ID:6813546
Promoter ID:HG_ACW:79265
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:TSNARE1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,405,116 - 143,405,867 (-)MPROMDB
RGD ID:6807087
Promoter ID:HG_KWN:62224
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003YWK.1,   UC003YWL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,481,991 - 143,483,437 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201425-142550407)x1 copy number loss See cases [RCV000050764] Chr8:142201425..142550407 [GRCh38]
Chr8:143282786..143631768 [GRCh37]
Chr8:143280693..143628770 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001291931.1(TSNARE1):c.89-5592C>G single nucleotide variant Lung cancer [RCV000107214] Chr8:142337423 [GRCh38]
Chr8:143418784 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143118307-143568462)x1 copy number loss See cases [RCV000446560] Chr8:143118307..143568462 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:141850516-143511413)x3 copy number gain See cases [RCV000512275] Chr8:141850516..143511413 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142446260-143549805)x3 copy number gain not provided [RCV000683005] Chr8:142446260..143549805 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143397498-143398359)x1 copy number loss not provided [RCV000747908] Chr8:143397498..143398359 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397498-143398414)x1 copy number loss not provided [RCV000747909] Chr8:143397498..143398414 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397498-143398620)x1 copy number loss not provided [RCV000747910] Chr8:143397498..143398620 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397498-143398726)x1 copy number loss not provided [RCV000747911] Chr8:143397498..143398726 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397498-143403693)x1 copy number loss not provided [RCV000747912] Chr8:143397498..143403693 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397544-143398414)x1 copy number loss not provided [RCV000747913] Chr8:143397544..143398414 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397544-143398726)x1 copy number loss not provided [RCV000747914] Chr8:143397544..143398726 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143397544-143405289)x1 copy number loss not provided [RCV000747915] Chr8:143397544..143405289 [GRCh37]
Chr8:8q24.3
benign
NM_145003.5(TSNARE1):c.302C>T (p.Pro101Leu) single nucleotide variant not provided [RCV000880867] Chr8:142344409 [GRCh38]
Chr8:143425770 [GRCh37]
Chr8:8q24.3
benign
NM_145003.5(TSNARE1):c.250G>T (p.Ala84Ser) single nucleotide variant not provided [RCV000971223] Chr8:142344461 [GRCh38]
Chr8:143425822 [GRCh37]
Chr8:8q24.3
likely benign
NM_145003.5(TSNARE1):c.571del (p.Leu191fs) deletion not provided [RCV000937951] Chr8:142344140 [GRCh38]
Chr8:143425501 [GRCh37]
Chr8:8q24.3
likely benign
NM_145003.5(TSNARE1):c.741C>T (p.Pro247=) single nucleotide variant not provided [RCV000880866] Chr8:142343970 [GRCh38]
Chr8:143425331 [GRCh37]
Chr8:8q24.3
benign
NM_145003.5(TSNARE1):c.1534C>T (p.Arg512Ter) single nucleotide variant not provided [RCV000888736] Chr8:142229492 [GRCh38]
Chr8:143310853 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_145003.5(TSNARE1):c.566G>A (p.Arg189Gln) single nucleotide variant not provided [RCV000892276] Chr8:142344145 [GRCh38]
Chr8:143425506 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_145003.5(TSNARE1):c.1299G>A (p.Leu433=) single nucleotide variant not provided [RCV000919782] Chr8:142284477 [GRCh38]
Chr8:143365838 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26437 AgrOrtholog
COSMIC TSNARE1 COSMIC
Ensembl Genes ENSG00000171045 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000303437 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000427770 UniProtKB/TrEMBL
  ENSP00000428763 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429626 UniProtKB/TrEMBL
  ENSP00000429679 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000430789 UniProtKB/TrEMBL
  ENSP00000499343 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307180 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518720 UniProtKB/TrEMBL
  ENST00000519651 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000520166 UniProtKB/TrEMBL
  ENST00000520462 UniProtKB/TrEMBL
  ENST00000524325 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000662555 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000171045 GTEx
HGNC ID HGNC:26437 ENTREZGENE
Human Proteome Map TSNARE1 Human Proteome Map
InterPro Myb_DNA-bind_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Syntaxin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T_SNARE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203062 UniProtKB/Swiss-Prot
NCBI Gene 203062 ENTREZGENE
Pfam Myb_DNA-bind_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Syntaxin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670693 PharmGKB
PROSITE T_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SynN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  t_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47661 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJA6_HUMAN UniProtKB/TrEMBL
  A0AVG3_HUMAN UniProtKB/TrEMBL
  B7ZLB1_HUMAN UniProtKB/TrEMBL
  E5RHT3 ENTREZGENE, UniProtKB/TrEMBL
  E5RHW3_HUMAN UniProtKB/TrEMBL
  E5RI41_HUMAN UniProtKB/TrEMBL
  Q6P186 ENTREZGENE, UniProtKB/TrEMBL
  Q96NA8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7ZLB0 UniProtKB/Swiss-Prot
  E5RG83 UniProtKB/TrEMBL
  Q14D03 UniProtKB/Swiss-Prot