STRAP (serine/threonine kinase receptor associated protein) - Rat Genome Database

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Gene: STRAP (serine/threonine kinase receptor associated protein) Homo sapiens
Analyze
Symbol: STRAP
Name: serine/threonine kinase receptor associated protein
RGD ID: 1322398
HGNC Page HGNC:30796
Description: Enables RNA binding activity. Involved in maintenance of gastrointestinal epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; large cell carcinoma; lung carcinoma; and squamous cell neoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MAP activator with WD repeats; MAPK activator with WD repeats; MAWD; mitogen-activated protein kinase activator with WD repeats; PT-WD; serine-threonine kinase receptor-associated protein; unr-interacting protein; UNRIP; WD-40 repeat protein PT-WD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC344382  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381215,882,387 - 15,903,478 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,882,387 - 15,903,478 (+)EnsemblGRCh38hg38GRCh38
GRCh371216,035,321 - 16,056,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,926,555 - 15,947,679 (+)NCBINCBI36Build 36hg18NCBI36
Build 341215,926,612 - 15,947,675NCBI
Celera1221,180,201 - 21,201,326 (+)NCBICelera
Cytogenetic Map12p12.3NCBI
HuRef1215,804,489 - 15,825,615 (+)NCBIHuRef
CHM1_11216,001,228 - 16,022,353 (+)NCBICHM1_1
T2T-CHM13v2.01215,759,643 - 15,780,736 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA,TAS)
nucleus  (IEA,ISO)
SMN complex  (IBA,IDA,IEA,IPI)
SMN-Sm protein complex  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Oncogenic function of a novel WD-domain protein, STRAP, in human carcinogenesis. Halder SK, etal., Cancer Res. 2006 Jun 15;66(12):6156-66.
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9856985   PMID:10049359   PMID:10646843   PMID:10757800   PMID:11042152   PMID:11230166   PMID:11355021   PMID:12067652   PMID:12477932   PMID:15489334   PMID:15761148   PMID:15761153  
PMID:15848170   PMID:16014633   PMID:16159890   PMID:16169070   PMID:16236267   PMID:16251192   PMID:16344560   PMID:17023415   PMID:17178713   PMID:17314099   PMID:17316412   PMID:17353931  
PMID:17916563   PMID:17929853   PMID:17984321   PMID:18029348   PMID:18451878   PMID:18833288   PMID:18984161   PMID:19011621   PMID:19738201   PMID:19836239   PMID:19880523   PMID:19928837  
PMID:20144149   PMID:20360068   PMID:20513430   PMID:21081503   PMID:21081666   PMID:21148321   PMID:21502811   PMID:21873635   PMID:22190034   PMID:22268729   PMID:22362889   PMID:22658674  
PMID:22681889   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23221635   PMID:23254330   PMID:23438482   PMID:23687415   PMID:23918805   PMID:23956138   PMID:24457600   PMID:24923560  
PMID:24981860   PMID:25071155   PMID:25147182   PMID:25168243   PMID:25324306   PMID:25483064   PMID:25659154   PMID:25798074   PMID:25921289   PMID:25959826   PMID:26217791   PMID:26344197  
PMID:26373288   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26673895   PMID:26777405   PMID:26831064   PMID:26885983   PMID:26910283   PMID:27025967   PMID:27371349   PMID:27432908  
PMID:27576135   PMID:27609421   PMID:27634302   PMID:28027390   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28827371   PMID:29053956   PMID:29128334   PMID:29229926  
PMID:29283497   PMID:29395067   PMID:29449217   PMID:29507755   PMID:29564676   PMID:29783958   PMID:29791485   PMID:29802200   PMID:29884807   PMID:30110629   PMID:30138317   PMID:30257989  
PMID:30397336   PMID:30575818   PMID:30833792   PMID:30948266   PMID:31046837   PMID:31059266   PMID:31091453   PMID:31519766   PMID:31536960   PMID:31586073   PMID:31685992   PMID:31741433  
PMID:31950832   PMID:32129710   PMID:32176739   PMID:32296183   PMID:32460013   PMID:32527012   PMID:32552912   PMID:32694731   PMID:32780723   PMID:32786267   PMID:32807901   PMID:32814053  
PMID:33239621   PMID:33306668   PMID:33644029   PMID:33731348   PMID:33742100   PMID:33766124   PMID:33845483   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34520730  
PMID:34591612   PMID:34597346   PMID:34672954   PMID:34732716   PMID:35013218   PMID:35013556   PMID:35031058   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35272839   PMID:35338135  
PMID:35446349   PMID:35509820   PMID:35545047   PMID:35562734   PMID:35563538   PMID:35676659   PMID:35696571   PMID:35831314   PMID:35831895   PMID:35850772   PMID:35944360   PMID:36114006  
PMID:36180527   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36282215   PMID:36526897   PMID:36538041   PMID:36543142   PMID:36597993   PMID:36762613   PMID:36912080   PMID:37151849  
PMID:37536630   PMID:37827155   PMID:37866880   PMID:38113892   PMID:38245532   PMID:38280479  


Genomics

Comparative Map Data
STRAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381215,882,387 - 15,903,478 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,882,387 - 15,903,478 (+)EnsemblGRCh38hg38GRCh38
GRCh371216,035,321 - 16,056,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,926,555 - 15,947,679 (+)NCBINCBI36Build 36hg18NCBI36
Build 341215,926,612 - 15,947,675NCBI
Celera1221,180,201 - 21,201,326 (+)NCBICelera
Cytogenetic Map12p12.3NCBI
HuRef1215,804,489 - 15,825,615 (+)NCBIHuRef
CHM1_11216,001,228 - 16,022,353 (+)NCBICHM1_1
T2T-CHM13v2.01215,759,643 - 15,780,736 (+)NCBIT2T-CHM13v2.0
Strap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396137,712,080 - 137,728,928 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6137,712,076 - 137,728,930 (+)EnsemblGRCm39 Ensembl
GRCm386137,735,082 - 137,751,930 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6137,735,078 - 137,751,932 (+)EnsemblGRCm38mm10GRCm38
MGSCv376137,683,603 - 137,700,451 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366137,699,320 - 137,715,292 (+)NCBIMGSCv36mm8
Celera6140,801,022 - 140,817,874 (+)NCBICelera
Cytogenetic Map6G1NCBI
cM Map667.27NCBI
Strap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84172,377,325 - 172,391,573 (+)NCBIGRCr8
mRatBN7.24170,646,042 - 170,660,291 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4170,646,001 - 170,660,828 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4176,941,205 - 176,955,453 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04172,725,536 - 172,739,784 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04171,345,915 - 171,360,163 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04171,730,629 - 171,744,877 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4171,730,635 - 171,745,377 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04235,987,501 - 236,001,749 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44174,863,502 - 174,877,750 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14175,108,625 - 175,122,869 (+)NCBI
Celera4159,222,263 - 159,236,511 (+)NCBICelera
Cytogenetic Map4q44NCBI
Strap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541312,533,423 - 12,559,288 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541312,533,422 - 12,558,138 (+)NCBIChiLan1.0ChiLan1.0
STRAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21021,329,335 - 21,350,503 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11221,326,100 - 21,347,407 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01215,883,512 - 15,904,778 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11216,279,134 - 16,302,212 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1216,279,956 - 16,300,746 (+)Ensemblpanpan1.1panPan2
STRAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12730,800,853 - 30,817,578 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2730,675,247 - 30,817,388 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2715,630,425 - 15,647,595 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02731,120,261 - 31,137,477 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2731,120,690 - 31,137,463 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12731,010,663 - 31,027,845 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02730,965,417 - 30,982,600 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02715,352,698 - 15,369,898 (+)NCBIUU_Cfam_GSD_1.0
Strap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494591,950,994 - 91,972,959 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365871,678,439 - 1,701,216 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365871,679,570 - 1,700,610 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STRAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl556,717,207 - 56,736,862 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1556,717,196 - 56,736,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2560,006,576 - 60,026,251 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STRAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11115,790,449 - 15,812,964 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1115,790,798 - 15,813,585 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606919,487,187 - 19,510,770 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Strap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475222,143,774 - 22,170,182 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475222,143,774 - 22,170,164 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STRAP
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_007178.3(STRAP):c.345G>T (p.Leu115Phe) single nucleotide variant Malignant melanoma [RCV000062465] Chr12:15890611 [GRCh38]
Chr12:16043545 [GRCh37]
Chr12:15934812 [NCBI36]
Chr12:12p12.3
not provided
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.3(chr12:15592098-16120442)x3 copy number gain See cases [RCV000139544] Chr12:15592098..16120442 [GRCh38]
Chr12:15745032..16273376 [GRCh37]
Chr12:15636299..16164643 [NCBI36]
Chr12:12p12.3
likely benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Ductal breast carcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p12.3(chr12:15940756-16172099)x3 copy number gain See cases [RCV000449226] Chr12:15940756..16172099 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3(chr12:15630989-16090925)x3 copy number gain not provided [RCV000847632] Chr12:15630989..16090925 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p12.3(chr12:16045841-16222477)x1 copy number loss not provided [RCV000846091] Chr12:16045841..16222477 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3
pathogenic
GRCh37/hg19 12p12.3(chr12:15912115-16284856)x3 copy number gain not provided [RCV001259124] Chr12:15912115..16284856 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p12.3(chr12:15916056-16284856)x3 copy number gain not provided [RCV001827709] Chr12:15916056..16284856 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1
pathogenic
NM_007178.4(STRAP):c.518C>G (p.Thr173Ser) single nucleotide variant Inborn genetic diseases [RCV003305259] Chr12:15895376 [GRCh38]
Chr12:16048310 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p12.3(chr12:15912116-16443995)x1 copy number loss not provided [RCV002474922] Chr12:15912116..16443995 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p12.3(chr12:15912116-16284856)x3 copy number gain not provided [RCV002474682] Chr12:15912116..16284856 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.7A>G (p.Met3Val) single nucleotide variant Inborn genetic diseases [RCV002687504] Chr12:15882714 [GRCh38]
Chr12:16035648 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.446C>T (p.Ala149Val) single nucleotide variant Inborn genetic diseases [RCV002817641] Chr12:15894089 [GRCh38]
Chr12:16047023 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.993A>C (p.Glu331Asp) single nucleotide variant Inborn genetic diseases [RCV002911751] Chr12:15902918 [GRCh38]
Chr12:16055852 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.104C>G (p.Ala35Gly) single nucleotide variant Inborn genetic diseases [RCV002854276] Chr12:15882811 [GRCh38]
Chr12:16035745 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.32C>G (p.Ser11Cys) single nucleotide variant Inborn genetic diseases [RCV002916802] Chr12:15882739 [GRCh38]
Chr12:16035673 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_007178.4(STRAP):c.517A>G (p.Thr173Ala) single nucleotide variant Inborn genetic diseases [RCV002939563] Chr12:15895375 [GRCh38]
Chr12:16048309 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_007178.4(STRAP):c.67A>G (p.Ser23Gly) single nucleotide variant Inborn genetic diseases [RCV003356618] Chr12:15882774 [GRCh38]
Chr12:16035708 [GRCh37]
Chr12:12p12.3
uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3(chr12:15873021-16152409)x1 copy number loss not provided [RCV003483151] Chr12:15873021..16152409 [GRCh37]
Chr12:12p12.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:920
Count of miRNA genes:471
Interacting mature miRNAs:499
Transcripts:ENST00000025399, ENST00000419869, ENST00000536737, ENST00000538352, ENST00000538718, ENST00000539887, ENST00000541731
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D12S1364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,056,286 - 16,056,377UniSTSGRCh37
Build 361215,947,553 - 15,947,644RGDNCBI36
Celera1221,201,200 - 21,201,291RGD
Cytogenetic Map12p12.3UniSTS
HuRef1215,825,489 - 15,825,580UniSTS
D12S1575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,056,293 - 16,056,365UniSTSGRCh37
Build 361215,947,560 - 15,947,632RGDNCBI36
Celera1221,201,207 - 21,201,279RGD
Cytogenetic Map12p12.3UniSTS
HuRef1215,825,496 - 15,825,568UniSTS
A003B47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,056,210 - 16,056,329UniSTSGRCh37
GRCh37238,045,405 - 38,045,529UniSTSGRCh37
Build 36237,898,909 - 37,899,033RGDNCBI36
Celera237,886,290 - 37,886,414RGD
Celera1221,201,124 - 21,201,243UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map12p12.3UniSTS
HuRef237,785,209 - 37,785,333UniSTS
HuRef1215,825,413 - 15,825,532UniSTS
GeneMap99-GB4 RH Map1244.94UniSTS
NCBI RH Map12199.4UniSTS


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 1 16 5
Medium 2438 2901 1725 623 1895 464 4357 2164 3734 416 1444 1608 175 1 1204 2788 6 2
Low 90 1 1 56 1 33 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_007178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB024327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY049776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA666505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U56430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000025399   ⟹   ENSP00000025399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,882,394 - 15,903,014 (+)Ensembl
RefSeq Acc Id: ENST00000419869   ⟹   ENSP00000392270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,882,387 - 15,903,478 (+)Ensembl
RefSeq Acc Id: ENST00000536737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,895,454 - 15,898,272 (+)Ensembl
RefSeq Acc Id: ENST00000538718   ⟹   ENSP00000445814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,897,945 - 15,903,340 (+)Ensembl
RefSeq Acc Id: ENST00000539887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,900,899 - 15,903,478 (+)Ensembl
RefSeq Acc Id: ENST00000541731   ⟹   ENSP00000445693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,882,391 - 15,903,442 (+)Ensembl
RefSeq Acc Id: NM_007178   ⟹   NP_009109
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,882,387 - 15,903,478 (+)NCBI
GRCh371216,035,288 - 16,056,412 (+)ENTREZGENE
Build 361215,926,555 - 15,947,679 (+)NCBI Archive
HuRef1215,804,489 - 15,825,615 (+)ENTREZGENE
CHM1_11216,001,228 - 16,022,353 (+)NCBI
T2T-CHM13v2.01215,759,643 - 15,780,736 (+)NCBI
Sequence:
RefSeq Acc Id: NP_009109   ⟸   NM_007178
- UniProtKB: Q9NTK0 (UniProtKB/Swiss-Prot),   Q5TZT4 (UniProtKB/Swiss-Prot),   B4DNJ6 (UniProtKB/Swiss-Prot),   B2R5S5 (UniProtKB/Swiss-Prot),   Q9UQC8 (UniProtKB/Swiss-Prot),   Q9Y3F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000445693   ⟸   ENST00000541731
RefSeq Acc Id: ENSP00000392270   ⟸   ENST00000419869
RefSeq Acc Id: ENSP00000445814   ⟸   ENST00000538718
RefSeq Acc Id: ENSP00000025399   ⟸   ENST00000025399

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3F4-F1-model_v2 AlphaFold Q9Y3F4 1-350 view protein structure

Promoters
RGD ID:7223335
Promoter ID:EPDNEW_H17413
Type:initiation region
Name:STRAP_1
Description:serine/threonine kinase receptor associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17414  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,882,388 - 15,882,448EPDNEW
RGD ID:7223337
Promoter ID:EPDNEW_H17414
Type:initiation region
Name:STRAP_2
Description:serine/threonine kinase receptor associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17413  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,882,681 - 15,882,741EPDNEW
RGD ID:6790429
Promoter ID:HG_KWN:15128
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007178,   UC001RDD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361215,926,209 - 15,926,709 (+)MPROMDB
RGD ID:6850452
Promoter ID:EP73017
Type:initiation region
Name:HS_UNRIP
Description:Unr-interacting protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361215,926,605 - 15,926,665EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30796 AgrOrtholog
COSMIC STRAP COSMIC
Ensembl Genes ENSG00000023734 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000025399.10 UniProtKB/Swiss-Prot
  ENST00000419869 ENTREZGENE
  ENST00000419869.7 UniProtKB/Swiss-Prot
  ENST00000538718.1 UniProtKB/TrEMBL
  ENST00000541731.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000023734 GTEx
HGNC ID HGNC:30796 ENTREZGENE
Human Proteome Map STRAP Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot
  Quinonprotein_ADH-like_supfam UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:11171 UniProtKB/Swiss-Prot
NCBI Gene 11171 ENTREZGENE
OMIM 605986 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 3 SUBUNIT I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE-THREONINE KINASE RECEPTOR-ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134867032 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Quin_alc_DH_like UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot
UniProt B2R5S5 ENTREZGENE
  B4DNJ6 ENTREZGENE
  F5H1G1_HUMAN UniProtKB/TrEMBL
  H0YH33_HUMAN UniProtKB/TrEMBL
  Q5TZT4 ENTREZGENE
  Q9NTK0 ENTREZGENE
  Q9UQC8 ENTREZGENE
  Q9Y3F4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R5S5 UniProtKB/Swiss-Prot
  B4DNJ6 UniProtKB/Swiss-Prot
  Q5TZT4 UniProtKB/Swiss-Prot
  Q9NTK0 UniProtKB/Swiss-Prot
  Q9UQC8 UniProtKB/Swiss-Prot