SORCS1 (sortilin related VPS10 domain containing receptor 1) - Rat Genome Database

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Gene: SORCS1 (sortilin related VPS10 domain containing receptor 1) Homo sapiens
Analyze
Symbol: SORCS1
Name: sortilin related VPS10 domain containing receptor 1
RGD ID: 1314224
HGNC Page HGNC:16697
Description: Predicted to be involved in post-Golgi vesicle-mediated transport. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ41758; FLJ43475; FLJ44957; hSorCS; SORCS receptor 1; sortilin-related VPS10 domain containing receptor 1; VPS10 domain receptor protein SORCS 1; VPS10 domain receptor SorCS; VPS10 domain-containing receptor SorCS1
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
GRCh3810106,573,663 - 107,181,138 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10106,573,663 - 107,164,706 (-)EnsemblGRCh38hg38GRCh38
GRCh3710108,333,421 - 108,924,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610108,323,411 - 108,914,282 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410108,323,410 - 108,914,282NCBI
Celera10102,072,553 - 102,663,374 (-)NCBICelera
Cytogenetic Map10q25.1NCBI
HuRef10101,965,988 - 102,556,901 (-)NCBIHuRef
CHM1_110108,615,122 - 109,206,295 (-)NCBICHM1_1
T2T-CHM13v2.010107,460,647 - 108,068,078 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Golgi apparatus  (IBA,IEA)
membrane  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SORCS1 contributes to the development of renal disease in rats and humans. Lazar J, etal., Physiol Genomics. 2013 Aug 15;45(16):720-8. doi: 10.1152/physiolgenomics.00089.2013. Epub 2013 Jun 18.
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:11499680   PMID:12477932   PMID:12482870   PMID:14702039   PMID:15164054   PMID:16385451   PMID:18315530   PMID:18519826   PMID:18830724   PMID:19241460   PMID:19875614   PMID:19913121  
PMID:19948975   PMID:20379614   PMID:20413850   PMID:20534741   PMID:20574532   PMID:20628086   PMID:20677014   PMID:20881129   PMID:21294870   PMID:21873635   PMID:22046233   PMID:22353753  
PMID:23055476   PMID:23279143   PMID:23472165   PMID:23700427   PMID:23934736   PMID:24128306   PMID:26618866   PMID:27052493   PMID:28827148   PMID:31829024   PMID:32129710   PMID:36697254  


Genomics

Comparative Map Data
SORCS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810106,573,663 - 107,181,138 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10106,573,663 - 107,164,706 (-)EnsemblGRCh38hg38GRCh38
GRCh3710108,333,421 - 108,924,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610108,323,411 - 108,914,282 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410108,323,410 - 108,914,282NCBI
Celera10102,072,553 - 102,663,374 (-)NCBICelera
Cytogenetic Map10q25.1NCBI
HuRef10101,965,988 - 102,556,901 (-)NCBIHuRef
CHM1_110108,615,122 - 109,206,295 (-)NCBICHM1_1
T2T-CHM13v2.010107,460,647 - 108,068,078 (-)NCBIT2T-CHM13v2.0
Sorcs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391950,131,733 - 50,668,030 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1950,131,737 - 50,667,084 (-)EnsemblGRCm39 Ensembl
GRCm381950,143,295 - 50,679,129 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1950,143,299 - 50,678,646 (-)EnsemblGRCm38mm10GRCm38
MGSCv371950,222,150 - 50,753,102 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361950,204,284 - 50,731,796 (-)NCBIMGSCv36mm8
Celera1950,907,555 - 51,438,064 (-)NCBICelera
Cytogenetic Map19D1NCBI
cM Map1945.05NCBI
Sorcs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81259,022,007 - 259,535,731 (-)NCBIGRCr8
mRatBN7.21249,080,662 - 249,594,520 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1249,081,355 - 249,594,507 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1257,225,370 - 257,730,896 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01263,918,158 - 264,423,716 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01256,561,905 - 257,073,670 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01269,965,824 - 270,473,097 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1269,973,351 - 270,472,866 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01277,404,996 - 277,912,261 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41255,767,411 - 256,279,565 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11256,033,640 - 256,545,663 (-)NCBI
Celera1244,828,397 - 245,333,325 (-)NCBICelera
Cytogenetic Map1q55NCBI
Sorcs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554853,719,008 - 4,218,699 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554853,719,006 - 4,222,143 (+)NCBIChiLan1.0ChiLan1.0
SORCS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28118,454,472 - 119,044,048 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110118,459,805 - 119,049,387 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010103,164,581 - 103,753,754 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110106,623,481 - 107,211,230 (-)NCBIpanpan1.1PanPan1.1panPan2
SORCS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12818,619,015 - 18,933,785 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2818,622,234 - 18,797,249 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2818,745,291 - 19,221,898 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02819,098,613 - 19,608,198 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2819,067,554 - 19,609,122 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12818,630,873 - 19,139,229 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02818,678,797 - 19,178,427 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02818,811,161 - 19,310,390 (-)NCBIUU_Cfam_GSD_1.0
Sorcs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721327,085,308 - 27,300,512 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493677628,537 - 241,135 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493677627,519 - 240,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SORCS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14117,479,787 - 118,009,583 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114117,479,817 - 118,009,485 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214127,817,702 - 128,359,641 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SORCS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1999,581,375 - 100,171,637 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604860,747,868 - 61,334,611 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sorcs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248315,435,192 - 5,736,481 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248315,433,671 - 5,901,911 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SORCS1
88 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q25.1(chr10:106726001-107839629)x3 copy number gain See cases [RCV000051652] Chr10:106726001..107839629 [GRCh38]
Chr10:108485759..109599387 [GRCh37]
Chr10:108475749..109589377 [NCBI36]
Chr10:10q25.1		 uncertain significance
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
NM_001013031.2(SORCS1):c.2796+226T>A single nucleotide variant Lung cancer [RCV000108568] Chr10:106620202 [GRCh38]
Chr10:108379960 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.2476-3018A>G single nucleotide variant Lung cancer [RCV000108569] Chr10:106632406 [GRCh38]
Chr10:108392164 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.2303+5638G>A single nucleotide variant Lung cancer [RCV000108570] Chr10:106662051 [GRCh38]
Chr10:108421809 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.2059-630C>A single nucleotide variant Lung cancer [RCV000108571] Chr10:106671997 [GRCh38]
Chr10:108431755 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.627-30297T>C single nucleotide variant Lung cancer [RCV000108572] Chr10:106859970 [GRCh38]
Chr10:108619728 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.627-31188G>T single nucleotide variant Lung cancer [RCV000108573] Chr10:106860861 [GRCh38]
Chr10:108620619 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.627-50174T>A single nucleotide variant Lung cancer [RCV000108574] Chr10:106879847 [GRCh38]
Chr10:108639605 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.627-55667A>G single nucleotide variant Lung cancer [RCV000108575] Chr10:106885340 [GRCh38]
Chr10:108645098 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.626+61980C>A single nucleotide variant Lung cancer [RCV000108576] Chr10:106894533 [GRCh38]
Chr10:108654291 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.626+14784C>A single nucleotide variant Lung cancer [RCV000108577] Chr10:106941729 [GRCh38]
Chr10:108701487 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.626+13978A>C single nucleotide variant Lung cancer [RCV000108578] Chr10:106942535 [GRCh38]
Chr10:108702293 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.626+11836G>T single nucleotide variant Lung cancer [RCV000108579] Chr10:106944677 [GRCh38]
Chr10:108704435 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.559-21721C>T single nucleotide variant Lung cancer [RCV000108580] Chr10:106978301 [GRCh38]
Chr10:108738059 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.559-54599G>T single nucleotide variant Lung cancer [RCV000108581] Chr10:107011179 [GRCh38]
Chr10:108770937 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.559-58368G>T single nucleotide variant Lung cancer [RCV000108582] Chr10:107014948 [GRCh38]
Chr10:108774706 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.559-66894A>T single nucleotide variant Lung cancer [RCV000108583] Chr10:107023474 [GRCh38]
Chr10:108783232 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+77032C>G single nucleotide variant Lung cancer [RCV000108584] Chr10:107086937 [GRCh38]
Chr10:108846695 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+68005G>T single nucleotide variant Lung cancer [RCV000108585] Chr10:107095964 [GRCh38]
Chr10:108855722 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+55727A>T single nucleotide variant Lung cancer [RCV000108586] Chr10:107108242 [GRCh38]
Chr10:108868000 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+47427G>A single nucleotide variant Lung cancer [RCV000108587] Chr10:107116542 [GRCh38]
Chr10:108876300 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+35029A>T single nucleotide variant Lung cancer [RCV000108588] Chr10:107128940 [GRCh38]
Chr10:108888698 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_001013031.2(SORCS1):c.558+27702C>A single nucleotide variant Lung cancer [RCV000108589] Chr10:107136267 [GRCh38]
Chr10:108896025 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.3371+126C>T single nucleotide variant Malignant tumor of prostate [RCV000149107] Chr10:106579243 [GRCh38]
Chr10:108339001 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh38/hg38 10q25.1(chr10:106700462-106752467)x3 copy number gain See cases [RCV000134389] Chr10:106700462..106752467 [GRCh38]
Chr10:108460220..108512225 [GRCh37]
Chr10:108450210..108502215 [NCBI36]
Chr10:10q25.1		 benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3 copy number gain See cases [RCV000138300] Chr10:104077161..108350985 [GRCh38]
Chr10:105836919..110110743 [GRCh37]
Chr10:105826909..110100733 [NCBI36]
Chr10:10q25.1		 uncertain significance
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3 copy number gain VATER association [RCV000524033] Chr10:107722094..109081424 [GRCh37]
Chr10:10q25.1		 likely benign
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:108461065-109604419)x3 copy number gain See cases [RCV000447400] Chr10:108461065..109604419 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1(chr10:108475302-109592395)x3 copy number gain See cases [RCV000445699] Chr10:108475302..109592395 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:108504697-108710802)x1 copy number loss See cases [RCV000510172] Chr10:108504697..108710802 [GRCh37]
Chr10:10q25.1		 likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:107734902-109787853)x3 copy number gain See cases [RCV000512212] Chr10:107734902..109787853 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:108496654-111204450)x3 copy number gain not provided [RCV000683272] Chr10:108496654..111204450 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q25.1(chr10:108777825-111742179)x1 copy number loss not provided [RCV000683273] Chr10:108777825..111742179 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_052918.5(SORCS1):c.984A>G (p.Glu328=) single nucleotide variant not provided [RCV000949339] Chr10:106730090 [GRCh38]
Chr10:108489848 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.1526C>T (p.Thr509Met) single nucleotide variant not provided [RCV000965816] Chr10:106688226 [GRCh38]
Chr10:108447984 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.2643C>T (p.Val881=) single nucleotide variant not provided [RCV000970788] Chr10:106629221 [GRCh38]
Chr10:108388979 [GRCh37]
Chr10:10q25.1		 likely benign
NM_052918.5(SORCS1):c.1383T>C (p.Pro461=) single nucleotide variant not provided [RCV000919430] Chr10:106699244 [GRCh38]
Chr10:108459002 [GRCh37]
Chr10:10q25.1		 likely benign
NM_052918.5(SORCS1):c.1554C>T (p.Cys518=) single nucleotide variant not provided [RCV000952684] Chr10:106688198 [GRCh38]
Chr10:108447956 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.2397G>A (p.Gly799=) single nucleotide variant not provided [RCV000881304] Chr10:106652460 [GRCh38]
Chr10:108412218 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.805C>A (p.Arg269=) single nucleotide variant not provided [RCV000909168] Chr10:106776614 [GRCh38]
Chr10:108536372 [GRCh37]
Chr10:10q25.1		 likely benign
GRCh37/hg19 10q25.1(chr10:107954392-110701910)x3 copy number gain not provided [RCV000847844] Chr10:107954392..110701910 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1(chr10:107954392-110701910)x3 copy number gain not provided [RCV000845948] Chr10:107954392..110701910 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.29C>A (p.Ser10Tyr) single nucleotide variant Inborn genetic diseases [RCV003273919] Chr10:107164498 [GRCh38]
Chr10:108924256 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2122A>G (p.Met708Val) single nucleotide variant Inborn genetic diseases [RCV003249008] Chr10:106671304 [GRCh38]
Chr10:108431062 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1(chr10:107728409-109787853)x3 copy number gain not provided [RCV001006354] Chr10:107728409..109787853 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2366C>A (p.Pro789Gln) single nucleotide variant not provided [RCV000888941] Chr10:106652491 [GRCh38]
Chr10:108412249 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.1230C>T (p.Pro410=) single nucleotide variant not provided [RCV000889913] Chr10:106706548 [GRCh38]
Chr10:108466306 [GRCh37]
Chr10:10q25.1		 benign
NM_052918.5(SORCS1):c.960-4T>C single nucleotide variant not provided [RCV000889914] Chr10:106730118 [GRCh38]
Chr10:108489876 [GRCh37]
Chr10:10q25.1		 benign
GRCh37/hg19 10q25.1(chr10:108254463-110095168)x1 copy number loss not provided [RCV001006355] Chr10:108254463..110095168 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1(chr10:108039346-109787835) copy number gain not specified [RCV002052888] Chr10:108039346..109787835 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1 copy number loss not provided [RCV001827678] Chr10:107092654..117852548 [GRCh37]
Chr10:10q25.1-25.3		 uncertain significance
GRCh37/hg19 10q25.1(chr10:108322984-108382229) copy number loss not specified [RCV002052890] Chr10:108322984..108382229 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
NM_052918.5(SORCS1):c.3371+167C>T single nucleotide variant Alzheimer disease 6 [RCV002254415] Chr10:106579202 [GRCh38]
Chr10:108338960 [GRCh37]
Chr10:10q25.1		 likely pathogenic
NM_052918.5(SORCS1):c.1807A>G (p.Thr603Ala) single nucleotide variant Inborn genetic diseases [RCV003262410] Chr10:106677338 [GRCh38]
Chr10:108437096 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1798A>G (p.Met600Val) single nucleotide variant Inborn genetic diseases [RCV003263322] Chr10:106677347 [GRCh38]
Chr10:108437105 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10q25.1(chr10:108528839-108639896)x1 copy number loss not provided [RCV002472774] Chr10:108528839..108639896 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.3067G>A (p.Ala1023Thr) single nucleotide variant Inborn genetic diseases [RCV002968847] Chr10:106607264 [GRCh38]
Chr10:108367022 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1102C>G (p.Pro368Ala) single nucleotide variant Inborn genetic diseases [RCV002773956] Chr10:106709264 [GRCh38]
Chr10:108469022 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.178G>A (p.Gly60Arg) single nucleotide variant Inborn genetic diseases [RCV002686946] Chr10:107164349 [GRCh38]
Chr10:108924107 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1193C>A (p.Ala398Glu) single nucleotide variant Inborn genetic diseases [RCV002817254] Chr10:106706585 [GRCh38]
Chr10:108466343 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1121A>G (p.Gln374Arg) single nucleotide variant Inborn genetic diseases [RCV002990165] Chr10:106709245 [GRCh38]
Chr10:108469003 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2836A>G (p.Thr946Ala) single nucleotide variant Inborn genetic diseases [RCV002782841] Chr10:106618233 [GRCh38]
Chr10:108377991 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1319T>C (p.Ile440Thr) single nucleotide variant Inborn genetic diseases [RCV002870478] Chr10:106699308 [GRCh38]
Chr10:108459066 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1526C>A (p.Thr509Lys) single nucleotide variant Inborn genetic diseases [RCV002924965] Chr10:106688226 [GRCh38]
Chr10:108447984 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.548A>G (p.His183Arg) single nucleotide variant Inborn genetic diseases [RCV002977897] Chr10:107163979 [GRCh38]
Chr10:108923737 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.749A>C (p.Glu250Ala) single nucleotide variant Inborn genetic diseases [RCV002702133] Chr10:106776670 [GRCh38]
Chr10:108536428 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1159C>G (p.Arg387Gly) single nucleotide variant Inborn genetic diseases [RCV002854244] Chr10:106706619 [GRCh38]
Chr10:108466377 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2572G>A (p.Val858Ile) single nucleotide variant Inborn genetic diseases [RCV002764746] Chr10:106629292 [GRCh38]
Chr10:108389050 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.3119A>G (p.Gln1040Arg) single nucleotide variant Inborn genetic diseases [RCV002763250] Chr10:106607212 [GRCh38]
Chr10:108366970 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1351G>A (p.Ala451Thr) single nucleotide variant Inborn genetic diseases [RCV002764917] Chr10:106699276 [GRCh38]
Chr10:108459034 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.203C>T (p.Thr68Met) single nucleotide variant Inborn genetic diseases [RCV002954941] Chr10:107164324 [GRCh38]
Chr10:108924082 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.301G>T (p.Val101Phe) single nucleotide variant Inborn genetic diseases [RCV002744010] Chr10:107164226 [GRCh38]
Chr10:108923984 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2455C>G (p.Leu819Val) single nucleotide variant Inborn genetic diseases [RCV002874619] Chr10:106652402 [GRCh38]
Chr10:108412160 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1379G>T (p.Gly460Val) single nucleotide variant Inborn genetic diseases [RCV002916573] Chr10:106699248 [GRCh38]
Chr10:108459006 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.506G>C (p.Gly169Ala) single nucleotide variant Inborn genetic diseases [RCV002766993] Chr10:107164021 [GRCh38]
Chr10:108923779 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2597G>A (p.Arg866His) single nucleotide variant Inborn genetic diseases [RCV002941702] Chr10:106629267 [GRCh38]
Chr10:108389025 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.990C>A (p.Asp330Glu) single nucleotide variant Inborn genetic diseases [RCV002940583] Chr10:106730084 [GRCh38]
Chr10:108489842 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.3110T>C (p.Leu1037Pro) single nucleotide variant Inborn genetic diseases [RCV002836397] Chr10:106607221 [GRCh38]
Chr10:108366979 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1126C>T (p.His376Tyr) single nucleotide variant Inborn genetic diseases [RCV002935526] Chr10:106709240 [GRCh38]
Chr10:108468998 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2305T>C (p.Tyr769His) single nucleotide variant Inborn genetic diseases [RCV002718695] Chr10:106652552 [GRCh38]
Chr10:108412310 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1862G>A (p.Ser621Asn) single nucleotide variant Inborn genetic diseases [RCV002854875] Chr10:106675127 [GRCh38]
Chr10:108434885 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1056C>G (p.Asn352Lys) single nucleotide variant Inborn genetic diseases [RCV002935882] Chr10:106709310 [GRCh38]
Chr10:108469068 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.82G>T (p.Ala28Ser) single nucleotide variant Inborn genetic diseases [RCV002678538] Chr10:107164445 [GRCh38]
Chr10:108924203 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2014C>T (p.Arg672Trp) single nucleotide variant Inborn genetic diseases [RCV003191640] Chr10:106672912 [GRCh38]
Chr10:108432670 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.683C>A (p.Thr228Asn) single nucleotide variant Inborn genetic diseases [RCV003201154] Chr10:106829617 [GRCh38]
Chr10:108589375 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.35C>T (p.Ala12Val) single nucleotide variant Inborn genetic diseases [RCV003207907] Chr10:107164492 [GRCh38]
Chr10:108924250 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2341G>A (p.Val781Ile) single nucleotide variant Inborn genetic diseases [RCV003263820] Chr10:106652516 [GRCh38]
Chr10:108412274 [GRCh37]
Chr10:10q25.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_052918.5(SORCS1):c.2734G>A (p.Val912Met) single nucleotide variant Inborn genetic diseases [RCV003371454] Chr10:106620490 [GRCh38]
Chr10:108380248 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1505G>A (p.Arg502His) single nucleotide variant Inborn genetic diseases [RCV003349824] Chr10:106688247 [GRCh38]
Chr10:108448005 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.422G>T (p.Gly141Val) single nucleotide variant Inborn genetic diseases [RCV003364936] Chr10:107164105 [GRCh38]
Chr10:108923863 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.557G>C (p.Ser186Thr) single nucleotide variant Inborn genetic diseases [RCV003371122] Chr10:107163970 [GRCh38]
Chr10:108923728 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.1301A>G (p.Asp434Gly) single nucleotide variant Inborn genetic diseases [RCV003367614] Chr10:106699326 [GRCh38]
Chr10:108459084 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2489G>A (p.Arg830Gln) single nucleotide variant Inborn genetic diseases [RCV003347695] Chr10:106629375 [GRCh38]
Chr10:108389133 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.712A>G (p.Thr238Ala) single nucleotide variant Inborn genetic diseases [RCV003375012] Chr10:106829588 [GRCh38]
Chr10:108589346 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.2444A>G (p.His815Arg) single nucleotide variant Inborn genetic diseases [RCV003375170] Chr10:106652413 [GRCh38]
Chr10:108412171 [GRCh37]
Chr10:10q25.1		 uncertain significance
NM_052918.5(SORCS1):c.3352G>A (p.Val1118Ile) single nucleotide variant not provided [RCV003422868] Chr10:106579388 [GRCh38]
Chr10:108339146 [GRCh37]
Chr10:10q25.1		 likely benign
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13		 likely pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1891
Count of miRNA genes:936
Interacting mature miRNAs:1120
Transcripts:ENST00000263054, ENST00000344440, ENST00000369698, ENST00000452214, ENST00000472196, ENST00000473866, ENST00000478809, ENST00000486192
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.

Markers in Region
D10S1123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,483,017 - 108,483,200UniSTSGRCh37
Celera10102,222,099 - 102,222,286UniSTS
HuRef10102,115,547 - 102,115,734UniSTS
Marshfield Genetic Map10122.84RGD
D10S108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,362,219 - 108,362,346UniSTSGRCh37
Celera10102,101,351 - 102,101,480UniSTS
Cytogenetic Map10q23-q25UniSTS
HuRef10101,994,789 - 101,994,918UniSTS
Marshfield Genetic Map10128.19RGD
Marshfield Genetic Map10128.19UniSTS
D10S1663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,746,164 - 108,746,390UniSTSGRCh37
Build 3610108,736,154 - 108,736,380RGDNCBI36
Celera10102,485,247 - 102,485,473RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,378,697 - 102,378,925UniSTS
Marshfield Genetic Map10127.11RGD
Marshfield Genetic Map10127.11UniSTS
Genethon Genetic Map10136.3UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH119367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,731,003 - 108,731,332UniSTSGRCh37
Build 3610108,720,993 - 108,721,322RGDNCBI36
Celera10102,470,086 - 102,470,415RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,363,536 - 102,363,865UniSTS
RH123545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,855,265 - 108,855,575UniSTSGRCh37
Build 3610108,845,255 - 108,845,565RGDNCBI36
Celera10102,594,346 - 102,594,656RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,487,695 - 102,488,005UniSTS
G60535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,746,118 - 108,746,404UniSTSGRCh37
Build 3610108,736,108 - 108,736,394RGDNCBI36
Celera10102,485,201 - 102,485,487RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,378,651 - 102,378,939UniSTS
TNG Radiation Hybrid Map335332.0UniSTS
D10S175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,686,546 - 108,686,784UniSTSGRCh37
Build 3610108,676,536 - 108,676,774RGDNCBI36
Celera10102,425,650 - 102,425,884RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,319,096 - 102,319,320UniSTS
D10S1395E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,335,850 - 108,336,039UniSTSGRCh37
Build 3610108,325,840 - 108,326,029RGDNCBI36
Celera10102,074,982 - 102,075,171RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10101,968,417 - 101,968,606UniSTS
SHGC-77869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,843,426 - 108,843,706UniSTSGRCh37
Build 3610108,833,416 - 108,833,696RGDNCBI36
Celera10102,582,507 - 102,582,787RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,475,826 - 102,476,106UniSTS
SHGC-142130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,751,300 - 108,751,581UniSTSGRCh37
Build 3610108,741,290 - 108,741,571RGDNCBI36
Celera10102,490,383 - 102,490,664RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,383,835 - 102,384,116UniSTS
SHGC-143767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,549,523 - 108,549,734UniSTSGRCh37
Build 3610108,539,513 - 108,539,724RGDNCBI36
Celera10102,288,628 - 102,288,839RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,182,052 - 102,182,263UniSTS
SHGC-31312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,353,068 - 108,353,217UniSTSGRCh37
Build 3610108,343,058 - 108,343,207RGDNCBI36
Celera10102,092,200 - 102,092,349RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10101,985,635 - 101,985,784UniSTS
Stanford-G3 RH Map104968.0UniSTS
GeneMap99-GB4 RH Map10497.17UniSTS
Whitehead-RH Map10595.0UniSTS
NCBI RH Map101146.5UniSTS
GeneMap99-G3 RH Map105204.0UniSTS
SORCS1__5283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,333,461 - 108,334,291UniSTSGRCh37
Build 3610108,323,451 - 108,324,281RGDNCBI36
Celera10102,072,593 - 102,073,423RGD
HuRef10101,966,028 - 101,966,858UniSTS
D10S1636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,448,908 - 108,449,090UniSTSGRCh37
Build 3610108,438,898 - 108,439,080RGDNCBI36
Celera10102,188,007 - 102,188,189RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,081,454 - 102,081,636UniSTS
Stanford-G3 RH Map104972.0UniSTS
NCBI RH Map101146.8UniSTS
A008R15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,335,852 - 108,336,015UniSTSGRCh37
Build 3610108,325,842 - 108,326,005RGDNCBI36
Celera10102,074,984 - 102,075,147RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10101,968,419 - 101,968,582UniSTS
GeneMap99-GB4 RH Map10495.24UniSTS
D10S1410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,461,467 - 108,461,609UniSTSGRCh37
Build 3610108,451,457 - 108,451,599RGDNCBI36
Celera10102,200,545 - 102,200,687RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10102,093,991 - 102,094,133UniSTS
Whitehead-RH Map10595.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
D10S1331E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710108,333,839 - 108,333,941UniSTSGRCh37
Build 3610108,323,829 - 108,323,931RGDNCBI36
Celera10102,072,971 - 102,073,073RGD
Cytogenetic Map10q23-q25UniSTS
HuRef10101,966,406 - 101,966,508UniSTS
GeneMap99-GB4 RH Map10496.65UniSTS
NCBI RH Map101152.4UniSTS


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
Medium 620 32 22 2 36 2 675 217 1053 19 66 20 6 621
Low 1567 1454 1042 171 347 20 2307 995 2365 154 1109 710 152 1 512 1202 1
Below cutoff 118 1231 478 277 764 266 1353 961 280 90 158 657 16 684 963 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001013031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY099452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY099453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE019093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU281343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU281344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263054   ⟹   ENSP00000263054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,573,663 - 107,164,706 (-)Ensembl
RefSeq Acc Id: ENST00000344440   ⟹   ENSP00000345964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,577,611 - 106,956,583 (-)Ensembl
RefSeq Acc Id: ENST00000369698   ⟹   ENSP00000358712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,577,182 - 106,699,358 (-)Ensembl
RefSeq Acc Id: ENST00000452214   ⟹   ENSP00000407769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,577,199 - 106,611,987 (-)Ensembl
RefSeq Acc Id: ENST00000472196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,667,084 - 106,675,089 (-)Ensembl
RefSeq Acc Id: ENST00000473866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,577,198 - 106,607,218 (-)Ensembl
RefSeq Acc Id: ENST00000478809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,600,267 - 106,618,274 (-)Ensembl
RefSeq Acc Id: ENST00000486192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,620,118 - 106,629,389 (-)Ensembl
RefSeq Acc Id: ENST00000612154   ⟹   ENSP00000478065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,573,671 - 106,956,583 (-)Ensembl
RefSeq Acc Id: ENST00000622431   ⟹   ENSP00000477888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10106,573,671 - 106,956,583 (-)Ensembl
RefSeq Acc Id: NM_001013031   ⟹   NP_001013049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)ENTREZGENE
GRCh3710108,333,421 - 108,924,466 (-)NCBI
Build 3610108,323,411 - 108,914,282 (-)NCBI Archive
Celera10102,072,553 - 102,663,374 (-)RGD
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,615,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206569   ⟹   NP_001193498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,577,187 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)ENTREZGENE
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,620,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,464,171 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206570   ⟹   NP_001193499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)NCBI
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,615,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206571   ⟹   NP_001193500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,578,663 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)ENTREZGENE
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,620,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,465,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001206572   ⟹   NP_001193501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)ENTREZGENE
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,615,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387556   ⟹   NP_001374485
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052918   ⟹   NP_443150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
GRCh3710108,333,421 - 108,924,466 (-)ENTREZGENE
GRCh3710108,333,421 - 108,924,466 (-)NCBI
Build 3610108,323,411 - 108,914,282 (-)NCBI Archive
Celera10102,072,553 - 102,663,374 (-)RGD
HuRef10101,965,988 - 102,556,901 (-)ENTREZGENE
CHM1_110108,615,122 - 109,206,295 (-)NCBI
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539199   ⟹   XP_011537501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,905 - 107,164,706 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539201   ⟹   XP_011537503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,579,481 - 107,164,706 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015615   ⟹   XP_016871104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015616   ⟹   XP_016871105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,002,918 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015617   ⟹   XP_016871106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,181,138 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015618   ⟹   XP_016871107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 106,699,303 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424545   ⟹   XP_047280501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
RefSeq Acc Id: XM_047424546   ⟹   XP_047280502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
RefSeq Acc Id: XM_047424547   ⟹   XP_047280503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,573,663 - 107,164,706 (-)NCBI
RefSeq Acc Id: XM_047424548   ⟹   XP_047280504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810106,579,481 - 107,164,706 (-)NCBI
RefSeq Acc Id: XM_054364660   ⟹   XP_054220635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,889 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364661   ⟹   XP_054220636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364662   ⟹   XP_054220637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364663   ⟹   XP_054220638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364664   ⟹   XP_054220639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364665   ⟹   XP_054220640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,466,465 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364666   ⟹   XP_054220641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,466,465 - 108,051,649 (-)NCBI
RefSeq Acc Id: XM_054364667   ⟹   XP_054220642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 107,889,856 (-)NCBI
RefSeq Acc Id: XM_054364668   ⟹   XP_054220643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 108,068,078 (-)NCBI
RefSeq Acc Id: XM_054364669   ⟹   XP_054220644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010107,460,647 - 107,586,270 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001013049 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193499 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193501 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374485 (Get FASTA)   NCBI Sequence Viewer  
  NP_443150 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537501 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537503 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871105 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871106 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871107 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280501 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280502 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220642 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220643 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220644 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI31598 (Get FASTA)   NCBI Sequence Viewer  
  AAL56667 (Get FASTA)   NCBI Sequence Viewer  
  AAM43811 (Get FASTA)   NCBI Sequence Viewer  
  AAM43812 (Get FASTA)   NCBI Sequence Viewer  
  ABZ89711 (Get FASTA)   NCBI Sequence Viewer  
  ABZ89712 (Get FASTA)   NCBI Sequence Viewer  
  BAD92379 (Get FASTA)   NCBI Sequence Viewer  
  BAF82486 (Get FASTA)   NCBI Sequence Viewer  
  BAG53952 (Get FASTA)   NCBI Sequence Viewer  
  BAG54201 (Get FASTA)   NCBI Sequence Viewer  
  BAG54391 (Get FASTA)   NCBI Sequence Viewer  
  EAW49583 (Get FASTA)   NCBI Sequence Viewer  
  EAW49584 (Get FASTA)   NCBI Sequence Viewer  
  EAW49585 (Get FASTA)   NCBI Sequence Viewer  
  EAW49586 (Get FASTA)   NCBI Sequence Viewer  
  EAW49587 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263054
  ENSP00000263054.5
  ENSP00000358712
  ENSP00000358712.2
  ENSP00000407769.1
GenBank Protein Q8WY21 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_443150   ⟸   NM_052918
- Peptide Label: isoform a precursor
- UniProtKB: Q9H1Y1 (UniProtKB/Swiss-Prot),   Q86WQ2 (UniProtKB/Swiss-Prot),   Q86WQ1 (UniProtKB/Swiss-Prot),   Q5VY14 (UniProtKB/Swiss-Prot),   Q5JVT8 (UniProtKB/Swiss-Prot),   Q5JVT7 (UniProtKB/Swiss-Prot),   Q59GG7 (UniProtKB/Swiss-Prot),   A2RRF4 (UniProtKB/Swiss-Prot),   Q9H1Y2 (UniProtKB/Swiss-Prot),   Q8WY21 (UniProtKB/Swiss-Prot),   B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001013049   ⟸   NM_001013031
- Peptide Label: isoform b precursor
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193499   ⟸   NM_001206570
- Peptide Label: isoform d precursor
- UniProtKB: A8K182 (UniProtKB/TrEMBL),   B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193501   ⟸   NM_001206572
- Peptide Label: isoform f precursor
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL),   E6Y3G0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193498   ⟸   NM_001206569
- Peptide Label: isoform c precursor
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193500   ⟸   NM_001206571
- Peptide Label: isoform e precursor
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537501   ⟸   XM_011539199
- Peptide Label: isoform X1
- UniProtKB: E6Y3F9 (UniProtKB/TrEMBL),   B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537503   ⟸   XM_011539201
- Peptide Label: isoform X6
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871106   ⟸   XM_017015617
- Peptide Label: isoform X9
- UniProtKB: B3KX79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871104   ⟸   XM_017015615
- Peptide Label: isoform X2
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871105   ⟸   XM_017015616
- Peptide Label: isoform X8
- UniProtKB: B3KX79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871107   ⟸   XM_017015618
- Peptide Label: isoform X10
- UniProtKB: B3KVZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477888   ⟸   ENST00000622431
RefSeq Acc Id: ENSP00000407769   ⟸   ENST00000452214
RefSeq Acc Id: ENSP00000478065   ⟸   ENST00000612154
RefSeq Acc Id: ENSP00000358712   ⟸   ENST00000369698
RefSeq Acc Id: ENSP00000263054   ⟸   ENST00000263054
RefSeq Acc Id: ENSP00000345964   ⟸   ENST00000344440
RefSeq Acc Id: NP_001374485   ⟸   NM_001387556
- Peptide Label: isoform g precursor
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280503   ⟸   XM_047424547
- Peptide Label: isoform X5
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280501   ⟸   XM_047424545
- Peptide Label: isoform X3
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280502   ⟸   XM_047424546
- Peptide Label: isoform X4
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047280504   ⟸   XM_047424548
- Peptide Label: isoform X7
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220643   ⟸   XM_054364668
- Peptide Label: isoform X9
- UniProtKB: B3KX79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220639   ⟸   XM_054364664
- Peptide Label: isoform X5
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220636   ⟸   XM_054364661
- Peptide Label: isoform X2
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220637   ⟸   XM_054364662
- Peptide Label: isoform X3
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220638   ⟸   XM_054364663
- Peptide Label: isoform X4
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220642   ⟸   XM_054364667
- Peptide Label: isoform X8
- UniProtKB: B3KX79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220644   ⟸   XM_054364669
- Peptide Label: isoform X10
- UniProtKB: B3KVZ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220635   ⟸   XM_054364660
- Peptide Label: isoform X1
- UniProtKB: E6Y3F9 (UniProtKB/TrEMBL),   B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220641   ⟸   XM_054364666
- Peptide Label: isoform X7
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054220640   ⟸   XM_054364665
- Peptide Label: isoform X6
- UniProtKB: B3KWN9 (UniProtKB/TrEMBL)
Protein Domains
PKD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WY21-F1-model_v2 AlphaFold Q8WY21 1-1168 view protein structure

Promoters
RGD ID:7218633
Promoter ID:EPDNEW_H15062
Type:initiation region
Name:SORCS1_3
Description:sortilin related VPS10 domain containing receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15063  EPDNEW_H15064  EPDNEW_H15065  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810107,164,600 - 107,164,660EPDNEW
RGD ID:7218635
Promoter ID:EPDNEW_H15063
Type:initiation region
Name:SORCS1_1
Description:sortilin related VPS10 domain containing receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15062  EPDNEW_H15064  EPDNEW_H15065  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810107,165,221 - 107,165,281EPDNEW
RGD ID:7218637
Promoter ID:EPDNEW_H15064
Type:multiple initiation site
Name:SORCS1_2
Description:sortilin related VPS10 domain containing receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15062  EPDNEW_H15063  EPDNEW_H15065  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810107,181,142 - 107,181,202EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16697 AgrOrtholog
COSMIC SORCS1 COSMIC
Ensembl Genes ENSG00000108018 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263054 ENTREZGENE
  ENST00000263054.11 UniProtKB/Swiss-Prot
  ENST00000369698 ENTREZGENE
  ENST00000369698.6 UniProtKB/TrEMBL
  ENST00000452214.5 UniProtKB/TrEMBL
Gene3D-CATH 2.10.70.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.120.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.270 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108018 GTEx
HGNC ID HGNC:16697 ENTREZGENE
Human Proteome Map SORCS1 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114815 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 114815 ENTREZGENE
OMIM 606283 OMIM
PANTHER SORTILIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS10 DOMAIN-CONTAINING RECEPTOR SORCS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PKD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin-Vps10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sortilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861284 PharmGKB
PROSITE PKD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART VPS10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Oligoxyloglucan reducing end-specific cellobiohydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49299 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRF4 ENTREZGENE
  A8K182 ENTREZGENE, UniProtKB/TrEMBL
  B3KVZ0 ENTREZGENE, UniProtKB/TrEMBL
  B3KWN9 ENTREZGENE, UniProtKB/TrEMBL
  B3KX79 ENTREZGENE, UniProtKB/TrEMBL
  E6Y3F9 ENTREZGENE, UniProtKB/TrEMBL
  E6Y3G0 ENTREZGENE, UniProtKB/TrEMBL
  H7C2U3_HUMAN UniProtKB/TrEMBL
  Q59GG7 ENTREZGENE
  Q5JVT7 ENTREZGENE
  Q5JVT8 ENTREZGENE
  Q5VY14 ENTREZGENE
  Q86WQ1 ENTREZGENE
  Q86WQ2 ENTREZGENE
  Q8WY21 ENTREZGENE
  Q9H1Y1 ENTREZGENE
  Q9H1Y2 ENTREZGENE
  SORC1_HUMAN UniProtKB/Swiss-Prot
  X6R7D6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2RRF4 UniProtKB/Swiss-Prot
  Q59GG7 UniProtKB/Swiss-Prot
  Q5JVT7 UniProtKB/Swiss-Prot
  Q5JVT8 UniProtKB/Swiss-Prot
  Q5VY14 UniProtKB/Swiss-Prot
  Q86WQ1 UniProtKB/Swiss-Prot
  Q86WQ2 UniProtKB/Swiss-Prot
  Q9H1Y1 UniProtKB/Swiss-Prot
  Q9H1Y2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 SORCS1  sortilin related VPS10 domain containing receptor 1  SORCS1  sortilin-related VPS10 domain containing receptor 1  Symbol and/or name change 5135510 APPROVED