THSD7A (thrombospondin type 1 domain containing 7A) - Rat Genome Database

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Gene: THSD7A (thrombospondin type 1 domain containing 7A) Homo sapiens
Analyze
Symbol: THSD7A
Name: thrombospondin type 1 domain containing 7A
RGD ID: 1602056
HGNC Page HGNC:22207
Description: Predicted to be involved in actin cytoskeleton organization. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA0960; thrombospondin type-1 domain-containing protein 7A; thrombospondin, type I, domain containing 7A
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
GRCh38711,370,365 - 11,832,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl711,370,365 - 11,832,198 (-)EnsemblGRCh38hg38GRCh38
GRCh37711,409,992 - 11,871,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36711,380,695 - 11,838,349 (-)NCBINCBI36Build 36hg18NCBI36
Celera711,384,846 - 11,846,544 (-)NCBICelera
Cytogenetic Map7p21.3NCBI
HuRef711,268,321 - 11,729,851 (-)NCBIHuRef
CHM1_1711,410,667 - 11,872,448 (-)NCBICHM1_1
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2711,463,461 - 11,925,090 (-)NCBI
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
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-palmitoylglycerol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beryllium sulfate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
chrysene  (ISO)
cobalt dichloride  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDT  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fucoxanthin  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
O-methyleugenol  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
progesterone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:10231032   PMID:12168954   PMID:12421765   PMID:12477932   PMID:14702039   PMID:15231748   PMID:18488137   PMID:20020485   PMID:20379614   PMID:20414141   PMID:20808825  
PMID:21873635   PMID:22145905   PMID:22194972   PMID:22889924   PMID:23303384   PMID:23376485   PMID:25394321   PMID:26238973   PMID:26393352   PMID:26796133   PMID:27214550   PMID:27634909  
PMID:28035718   PMID:28801527   PMID:28904948   PMID:29472232   PMID:29511687   PMID:29769410   PMID:30021884   PMID:30520531   PMID:31395435   PMID:31443644   PMID:31586073   PMID:32296183  
PMID:32513696   PMID:32935600   PMID:33249733   PMID:33541421   PMID:33961781   PMID:34040602   PMID:35670653   PMID:37157070   PMID:37827155  


Genomics

Comparative Map Data
THSD7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38711,370,365 - 11,832,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl711,370,365 - 11,832,198 (-)EnsemblGRCh38hg38GRCh38
GRCh37711,409,992 - 11,871,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36711,380,695 - 11,838,349 (-)NCBINCBI36Build 36hg18NCBI36
Celera711,384,846 - 11,846,544 (-)NCBICelera
Cytogenetic Map7p21.3NCBI
HuRef711,268,321 - 11,729,851 (-)NCBIHuRef
CHM1_1711,410,667 - 11,872,448 (-)NCBICHM1_1
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2711,463,461 - 11,925,090 (-)NCBI
Thsd7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39612,311,607 - 12,749,252 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl612,311,609 - 12,749,409 (-)EnsemblGRCm39 Ensembl
GRCm38612,311,608 - 12,749,253 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl612,311,610 - 12,749,410 (-)EnsemblGRCm38mm10GRCm38
MGSCv37612,261,608 - 12,699,253 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36612,266,188 - 12,369,363 (-)NCBIMGSCv36mm8
Celera612,410,903 - 12,846,978 (-)NCBICelera
Cytogenetic Map6A1NCBI
cM Map65.31NCBI
Thsd7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8441,427,276 - 41,865,524 (-)NCBIGRCr8
mRatBN7.2440,461,124 - 40,899,345 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl440,460,814 - 40,899,583 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx445,419,542 - 45,860,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0441,345,675 - 41,786,802 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0439,749,295 - 40,190,421 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0438,658,512 - 39,103,411 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl438,664,066 - 39,102,807 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0438,500,796 - 38,938,890 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4437,617,357 - 38,060,371 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera435,850,758 - 36,285,135 (-)NCBICelera
Cytogenetic Map4q21NCBI
Thsd7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543217,901,693 - 18,111,901 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543217,896,273 - 18,111,903 (-)NCBIChiLan1.0ChiLan1.0
THSD7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2616,200,112 - 16,675,029 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1764,524,829 - 64,999,740 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0712,024,080 - 12,498,856 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1711,370,715 - 11,843,379 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl711,376,048 - 11,652,504 (-)Ensemblpanpan1.1panPan2
THSD7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11426,344,342 - 26,769,727 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1426,349,465 - 26,769,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1425,860,426 - 26,285,019 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01426,151,271 - 26,576,848 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1426,156,399 - 26,576,605 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11426,320,825 - 26,748,226 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01426,054,356 - 26,479,356 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01426,303,891 - 26,732,300 (-)NCBIUU_Cfam_GSD_1.0
Thsd7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511839,824,019 - 40,542,413 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936761948,564 - 1,180,351 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936761947,445 - 1,336,541 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THSD7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl981,076,091 - 81,518,344 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1981,071,840 - 81,518,200 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2989,069,461 - 89,309,422 (-)NCBISscrofa10.2Sscrofa10.2susScr3
THSD7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12146,312,799 - 46,802,002 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2146,518,101 - 46,796,607 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604257,645,679 - 58,139,124 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thsd7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248277,620,672 - 7,896,923 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248277,444,535 - 7,898,557 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THSD7A
122 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015204.2(THSD7A):c.3065-4764T>A single nucleotide variant Lung cancer [RCV000105427] Chr7:11433889 [GRCh38]
Chr7:11473516 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.2(THSD7A):c.1823-12363G>A single nucleotide variant Lung cancer [RCV000105433] Chr7:11494345 [GRCh38]
Chr7:11533972 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.2(THSD7A):c.1023-4192G>C single nucleotide variant Lung cancer [RCV000105440] Chr7:11597694 [GRCh38]
Chr7:11637321 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3		 pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4 copy number gain See cases [RCV000053409] Chr7:10106458..11714808 [GRCh38]
Chr7:10146085..11754435 [GRCh37]
Chr7:10112610..11720960 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3 copy number gain See cases [RCV000053410] Chr7:10691723..11375132 [GRCh38]
Chr7:10731350..11414759 [GRCh37]
Chr7:10697875..11381284 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3 copy number gain See cases [RCV000137364] Chr7:10835790..11523056 [GRCh38]
Chr7:10875417..11562683 [GRCh37]
Chr7:10841942..11529208 [NCBI36]
Chr7:7p21.3		 likely benign
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p21.3(chr7:11181583-12423003)x3 copy number gain See cases [RCV000141626] Chr7:11181583..12423003 [GRCh38]
Chr7:11221210..12462629 [GRCh37]
Chr7:11187735..12429154 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1 copy number loss See cases [RCV000142652] Chr7:11122492..16479303 [GRCh38]
Chr7:11162119..16518928 [GRCh37]
Chr7:11128644..16485453 [NCBI36]
Chr7:7p21.3-21.2		 pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p21.3(chr7:11424389-11517897)x1 copy number loss See cases [RCV000449223] Chr7:11424389..11517897 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:9645570-12393614)x3 copy number gain See cases [RCV000510670] Chr7:9645570..12393614 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 copy number gain See cases [RCV000511575] Chr7:7660104..18400293 [GRCh37]
Chr7:7p21.3-21.1		 uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p21.3(chr7:10275242-11803023)x4 copy number gain See cases [RCV000512007] Chr7:10275242..11803023 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_015204.3(THSD7A):c.389A>G (p.Asn130Ser) single nucleotide variant Inborn genetic diseases [RCV003249451] Chr7:11636763 [GRCh38]
Chr7:11676390 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.172C>A (p.Leu58Ile) single nucleotide variant Inborn genetic diseases [RCV003274851] Chr7:11831775 [GRCh38]
Chr7:11871401 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3032G>A (p.Arg1011Lys) single nucleotide variant Inborn genetic diseases [RCV003301899] Chr7:11446093 [GRCh38]
Chr7:11485720 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3528A>C (p.Gln1176His) single nucleotide variant Inborn genetic diseases [RCV003265248] Chr7:11417459 [GRCh38]
Chr7:11457086 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1838G>C (p.Arg613Thr) single nucleotide variant Inborn genetic diseases [RCV003280589] Chr7:11481967 [GRCh38]
Chr7:11521594 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:10866366-11568530)x3 copy number gain not provided [RCV000682863] Chr7:10866366..11568530 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:11585820-11595832)x1 copy number loss not provided [RCV000746468] Chr7:11585820..11595832 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p21.3(chr7:11677126-11778080)x3 copy number gain not provided [RCV000746469] Chr7:11677126..11778080 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_015204.3(THSD7A):c.684A>G (p.Gly228=) single nucleotide variant not provided [RCV000972760] Chr7:11636468 [GRCh38]
Chr7:11676095 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.1036G>A (p.Glu346Lys) single nucleotide variant not provided [RCV000973132] Chr7:11593489 [GRCh38]
Chr7:11633116 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_015204.3(THSD7A):c.2487G>T (p.Ala829=) single nucleotide variant not provided [RCV000947001] Chr7:11462025 [GRCh38]
Chr7:11501652 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.4806G>A (p.Gly1602=) single nucleotide variant not provided [RCV000888443] Chr7:11376653 [GRCh38]
Chr7:11416280 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.984T>C (p.Val328=) single nucleotide variant not provided [RCV000970160] Chr7:11636168 [GRCh38]
Chr7:11675795 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.3798+10T>C single nucleotide variant not provided [RCV000898302] Chr7:11411197 [GRCh38]
Chr7:11450824 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.4025G>A (p.Arg1342Gln) single nucleotide variant not provided [RCV000963201] Chr7:11406947 [GRCh38]
Chr7:11446574 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.2564_2566dup (p.Pro855_Gly856insAla) duplication not provided [RCV000882831] Chr7:11460700..11460701 [GRCh38]
Chr7:11500327..11500328 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.1578T>C (p.Tyr526=) single nucleotide variant not provided [RCV000916921] Chr7:11542993 [GRCh38]
Chr7:11582620 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.1189A>T (p.Ile397Phe) single nucleotide variant Inborn genetic diseases [RCV003247657] Chr7:11593336 [GRCh38]
Chr7:11632963 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.708G>A (p.Thr236=) single nucleotide variant not provided [RCV000965358] Chr7:11636444 [GRCh38]
Chr7:11676071 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p21.3(chr7:10116563-11737690)x3 copy number gain not provided [RCV001005909] Chr7:10116563..11737690 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3689G>A (p.Ser1230Asn) single nucleotide variant Inborn genetic diseases [RCV003291394] Chr7:11411316 [GRCh38]
Chr7:11450943 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1870C>T (p.Pro624Ser) single nucleotide variant Inborn genetic diseases [RCV003272215] Chr7:11481935 [GRCh38]
Chr7:11521562 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.775C>T (p.Pro259Ser) single nucleotide variant Inborn genetic diseases [RCV003273054] Chr7:11636377 [GRCh38]
Chr7:11676004 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.745G>A (p.Glu249Lys) single nucleotide variant Inborn genetic diseases [RCV003251071] Chr7:11636407 [GRCh38]
Chr7:11676034 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.38G>C (p.Arg13Pro) single nucleotide variant Inborn genetic diseases [RCV003250870] Chr7:11831909 [GRCh38]
Chr7:11871535 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.2235C>G (p.Gly745=) single nucleotide variant not provided [RCV000886592] Chr7:11474351 [GRCh38]
Chr7:11513978 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.2253-10G>A single nucleotide variant not provided [RCV000932442] Chr7:11470004 [GRCh38]
Chr7:11509631 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.4890-5del deletion not provided [RCV000953250] Chr7:11375883 [GRCh38]
Chr7:11415510 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.4956T>C (p.Asp1652=) single nucleotide variant not provided [RCV000955370] Chr7:11375812 [GRCh38]
Chr7:11415439 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.1453+9T>C single nucleotide variant not provided [RCV000930717] Chr7:11590451 [GRCh38]
Chr7:11630078 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.660T>C (p.His220=) single nucleotide variant not provided [RCV000930718] Chr7:11636492 [GRCh38]
Chr7:11676119 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.80CGCTGC[5] (p.27PL[5]) microsatellite not provided [RCV000948759] Chr7:11831843..11831844 [GRCh38]
Chr7:11871469..11871470 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.4134T>A (p.Asp1378Glu) single nucleotide variant not provided [RCV000895907] Chr7:11406403 [GRCh38]
Chr7:11446030 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p21.3(chr7:11514979-11580072)x1 copy number loss not provided [RCV001005910] Chr7:11514979..11580072 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.4560G>A (p.Pro1520=) single nucleotide variant not provided [RCV000956466] Chr7:11379660 [GRCh38]
Chr7:11419287 [GRCh37]
Chr7:7p21.3		 benign
NM_015204.3(THSD7A):c.4598C>A (p.Thr1533Lys) single nucleotide variant not provided [RCV000956465] Chr7:11379273 [GRCh38]
Chr7:11418900 [GRCh37]
Chr7:7p21.3		 likely benign
NC_000007.14:g.11357596_11451599dup duplication not provided [RCV001263259] Chr7:11357596..11451599 [GRCh38]
Chr7:11397223..11491226 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3(chr7:10528678-11457492)x3 copy number gain not provided [RCV001259426] Chr7:10528678..11457492 [GRCh37]
Chr7:7p21.3		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:11405926-11636997)x3 copy number gain not provided [RCV001259427] Chr7:11405926..11636997 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p21.3(chr7:10712710-11500366)x3 copy number gain not provided [RCV001259430] Chr7:10712710..11500366 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3 copy number gain 7p21.3p21.2 microduplication [RCV001775451] Chr7:8980970..14085991 [GRCh37]
Chr7:7p21.3-21.2		 likely pathogenic
GRCh37/hg19 7p21.3(chr7:11424389-11517897) copy number loss not specified [RCV002053670] Chr7:11424389..11517897 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2		 likely pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1 copy number loss not provided [RCV001836593] Chr7:7909867..17213072 [GRCh37]
Chr7:7p21.3-21.1		 uncertain significance
GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082) copy number loss not specified [RCV002053667] Chr7:9358316..20982082 [GRCh37]
Chr7:7p21.3-15.3		 pathogenic
NM_015204.3(THSD7A):c.151G>A (p.Gly51Ser) single nucleotide variant Inborn genetic diseases [RCV003254496] Chr7:11831796 [GRCh38]
Chr7:11871422 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_015204.3(THSD7A):c.2741A>G (p.Lys914Arg) single nucleotide variant Inborn genetic diseases [RCV003283806] Chr7:11447289 [GRCh38]
Chr7:11486916 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2108C>A (p.Pro703His) single nucleotide variant Inborn genetic diseases [RCV003288133] Chr7:11474478 [GRCh38]
Chr7:11514105 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.997A>G (p.Lys333Glu) single nucleotide variant Inborn genetic diseases [RCV002990659] Chr7:11636155 [GRCh38]
Chr7:11675782 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4672G>A (p.Val1558Met) single nucleotide variant Inborn genetic diseases [RCV002686436] Chr7:11379199 [GRCh38]
Chr7:11418826 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2618G>A (p.Arg873His) single nucleotide variant Inborn genetic diseases [RCV002970367] Chr7:11447412 [GRCh38]
Chr7:11487039 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4570C>T (p.Pro1524Ser) single nucleotide variant Inborn genetic diseases [RCV002882556] Chr7:11379650 [GRCh38]
Chr7:11419277 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3497G>A (p.Cys1166Tyr) single nucleotide variant Inborn genetic diseases [RCV002751765] Chr7:11417490 [GRCh38]
Chr7:11457117 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4362G>C (p.Glu1454Asp) single nucleotide variant Inborn genetic diseases [RCV002734501] Chr7:11401844 [GRCh38]
Chr7:11441471 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2270G>A (p.Arg757Gln) single nucleotide variant Inborn genetic diseases [RCV002772663] Chr7:11469977 [GRCh38]
Chr7:11509604 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1109G>T (p.Ser370Ile) single nucleotide variant Inborn genetic diseases [RCV002882555] Chr7:11593416 [GRCh38]
Chr7:11633043 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2467G>T (p.Ala823Ser) single nucleotide variant Inborn genetic diseases [RCV002727733] Chr7:11462045 [GRCh38]
Chr7:11501672 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2669G>A (p.Gly890Asp) single nucleotide variant Inborn genetic diseases [RCV002888637] Chr7:11447361 [GRCh38]
Chr7:11486988 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2407A>G (p.Ile803Val) single nucleotide variant Inborn genetic diseases [RCV002981018]|THSD7A-related condition [RCV003963768] Chr7:11462105 [GRCh38]
Chr7:11501732 [GRCh37]
Chr7:7p21.3		 likely benign|uncertain significance
NM_015204.3(THSD7A):c.3343C>T (p.Arg1115Trp) single nucleotide variant Inborn genetic diseases [RCV002691518] Chr7:11424736 [GRCh38]
Chr7:11464363 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.259G>A (p.Ala87Thr) single nucleotide variant Inborn genetic diseases [RCV003001748] Chr7:11636893 [GRCh38]
Chr7:11676520 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2399A>G (p.His800Arg) single nucleotide variant Inborn genetic diseases [RCV002910697] Chr7:11462113 [GRCh38]
Chr7:11501740 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.314C>T (p.Pro105Leu) single nucleotide variant Inborn genetic diseases [RCV002912261] Chr7:11636838 [GRCh38]
Chr7:11676465 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2164T>C (p.Trp722Arg) single nucleotide variant Inborn genetic diseases [RCV002758083] Chr7:11474422 [GRCh38]
Chr7:11514049 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1640A>G (p.Asn547Ser) single nucleotide variant Inborn genetic diseases [RCV002868999] Chr7:11541601 [GRCh38]
Chr7:11581228 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4787A>G (p.Gln1596Arg) single nucleotide variant Inborn genetic diseases [RCV002767396] Chr7:11379084 [GRCh38]
Chr7:11418711 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2548G>A (p.Val850Met) single nucleotide variant Inborn genetic diseases [RCV002983366] Chr7:11460719 [GRCh38]
Chr7:11500346 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4067C>T (p.Ala1356Val) single nucleotide variant Inborn genetic diseases [RCV002702265] Chr7:11406470 [GRCh38]
Chr7:11446097 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2189T>C (p.Val730Ala) single nucleotide variant Inborn genetic diseases [RCV002768465] Chr7:11474397 [GRCh38]
Chr7:11514024 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3635C>G (p.Pro1212Arg) single nucleotide variant Inborn genetic diseases [RCV002984365] Chr7:11412703 [GRCh38]
Chr7:11452330 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2861A>C (p.Gln954Pro) single nucleotide variant Inborn genetic diseases [RCV002665983] Chr7:11446264 [GRCh38]
Chr7:11485891 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.869G>T (p.Gly290Val) single nucleotide variant Inborn genetic diseases [RCV002891616] Chr7:11636283 [GRCh38]
Chr7:11675910 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3504A>G (p.Ile1168Met) single nucleotide variant Inborn genetic diseases [RCV002641952] Chr7:11417483 [GRCh38]
Chr7:11457110 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1987C>G (p.Arg663Gly) single nucleotide variant Inborn genetic diseases [RCV002850121] Chr7:11481818 [GRCh38]
Chr7:11521445 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1004G>A (p.Gly335Glu) single nucleotide variant Inborn genetic diseases [RCV002765009] Chr7:11636148 [GRCh38]
Chr7:11675775 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3500T>C (p.Val1167Ala) single nucleotide variant Inborn genetic diseases [RCV002956709] Chr7:11417487 [GRCh38]
Chr7:11457114 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.655C>T (p.Arg219Cys) single nucleotide variant Inborn genetic diseases [RCV002786837] Chr7:11636497 [GRCh38]
Chr7:11676124 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2027G>A (p.Arg676His) single nucleotide variant Inborn genetic diseases [RCV003003631] Chr7:11474559 [GRCh38]
Chr7:11514186 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.1410C>G (p.Asn470Lys) single nucleotide variant Inborn genetic diseases [RCV002767887] Chr7:11590503 [GRCh38]
Chr7:11630130 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3530G>A (p.Cys1177Tyr) single nucleotide variant Inborn genetic diseases [RCV002954794] Chr7:11417457 [GRCh38]
Chr7:11457084 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4964C>T (p.Ala1655Val) single nucleotide variant Inborn genetic diseases [RCV002696517] Chr7:11375804 [GRCh38]
Chr7:11415431 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3616A>C (p.Asn1206His) single nucleotide variant Inborn genetic diseases [RCV002792624] Chr7:11412722 [GRCh38]
Chr7:11452349 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1531A>T (p.Thr511Ser) single nucleotide variant Inborn genetic diseases [RCV002648479] Chr7:11543040 [GRCh38]
Chr7:11582667 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1331A>G (p.Gln444Arg) single nucleotide variant Inborn genetic diseases [RCV002748434] Chr7:11590582 [GRCh38]
Chr7:11630209 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2060G>A (p.Arg687Gln) single nucleotide variant Inborn genetic diseases [RCV002896404] Chr7:11474526 [GRCh38]
Chr7:11514153 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3758G>A (p.Arg1253Gln) single nucleotide variant Inborn genetic diseases [RCV002989164] Chr7:11411247 [GRCh38]
Chr7:11450874 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1628G>A (p.Arg543Gln) single nucleotide variant Inborn genetic diseases [RCV002702746] Chr7:11541613 [GRCh38]
Chr7:11581240 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.134G>C (p.Gly45Ala) single nucleotide variant Inborn genetic diseases [RCV002964681] Chr7:11831813 [GRCh38]
Chr7:11871439 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1360C>T (p.Leu454Phe) single nucleotide variant Inborn genetic diseases [RCV002960214] Chr7:11590553 [GRCh38]
Chr7:11630180 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4691T>C (p.Met1564Thr) single nucleotide variant Inborn genetic diseases [RCV002961420] Chr7:11379180 [GRCh38]
Chr7:11418807 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1715C>G (p.Ala572Gly) single nucleotide variant Inborn genetic diseases [RCV002807702] Chr7:11541526 [GRCh38]
Chr7:11581153 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1489C>T (p.Pro497Ser) single nucleotide variant Inborn genetic diseases [RCV002669706] Chr7:11543082 [GRCh38]
Chr7:11582709 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.80C>G (p.Pro27Arg) single nucleotide variant Inborn genetic diseases [RCV002668990] Chr7:11831867 [GRCh38]
Chr7:11871493 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3467G>A (p.Arg1156Lys) single nucleotide variant Inborn genetic diseases [RCV002724706] Chr7:11417520 [GRCh38]
Chr7:11457147 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1753G>A (p.Glu585Lys) single nucleotide variant Inborn genetic diseases [RCV002679709] Chr7:11541488 [GRCh38]
Chr7:11581115 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3398C>T (p.Thr1133Ile) single nucleotide variant Inborn genetic diseases [RCV002723470] Chr7:11417589 [GRCh38]
Chr7:11457216 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4871C>G (p.Ser1624Cys) single nucleotide variant Inborn genetic diseases [RCV002652915] Chr7:11376588 [GRCh38]
Chr7:11416215 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.589G>C (p.Val197Leu) single nucleotide variant Inborn genetic diseases [RCV003216963] Chr7:11636563 [GRCh38]
Chr7:11676190 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3890A>C (p.Glu1297Ala) single nucleotide variant Inborn genetic diseases [RCV003211528] Chr7:11407332 [GRCh38]
Chr7:11446959 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1531A>G (p.Thr511Ala) single nucleotide variant Inborn genetic diseases [RCV003211307] Chr7:11543040 [GRCh38]
Chr7:11582667 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2265C>A (p.Ser755Arg) single nucleotide variant Inborn genetic diseases [RCV003196342] Chr7:11469982 [GRCh38]
Chr7:11509609 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.574C>G (p.Gln192Glu) single nucleotide variant Inborn genetic diseases [RCV003216077] Chr7:11636578 [GRCh38]
Chr7:11676205 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2081G>A (p.Cys694Tyr) single nucleotide variant Inborn genetic diseases [RCV003201289] Chr7:11474505 [GRCh38]
Chr7:11514132 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3775G>C (p.Val1259Leu) single nucleotide variant Inborn genetic diseases [RCV003186636] Chr7:11411230 [GRCh38]
Chr7:11450857 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2480C>A (p.Pro827His) single nucleotide variant Inborn genetic diseases [RCV003309055] Chr7:11462032 [GRCh38]
Chr7:11501659 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3 copy number gain not provided [RCV003327276] Chr7:10973263..14669896 [GRCh37]
Chr7:7p21.3-21.2		 uncertain significance
NM_015204.3(THSD7A):c.4445G>C (p.Ser1482Thr) single nucleotide variant Inborn genetic diseases [RCV003381575] Chr7:11382583 [GRCh38]
Chr7:11422210 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.539A>G (p.Lys180Arg) single nucleotide variant Inborn genetic diseases [RCV003349435] Chr7:11636613 [GRCh38]
Chr7:11676240 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1151G>T (p.Gly384Val) single nucleotide variant Inborn genetic diseases [RCV003369759] Chr7:11593374 [GRCh38]
Chr7:11633001 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.3910C>T (p.Leu1304Phe) single nucleotide variant Inborn genetic diseases [RCV003378144] Chr7:11407312 [GRCh38]
Chr7:11446939 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2402G>A (p.Arg801Gln) single nucleotide variant Inborn genetic diseases [RCV003365246] Chr7:11462110 [GRCh38]
Chr7:11501737 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1658C>G (p.Ser553Cys) single nucleotide variant Inborn genetic diseases [RCV003383064] Chr7:11541583 [GRCh38]
Chr7:11581210 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.4196A>T (p.Lys1399Ile) single nucleotide variant Inborn genetic diseases [RCV003367128] Chr7:11406341 [GRCh38]
Chr7:11445968 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2942T>C (p.Val981Ala) single nucleotide variant Inborn genetic diseases [RCV003356163]|not provided [RCV003491367] Chr7:11446183 [GRCh38]
Chr7:11485810 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.1826A>G (p.Glu609Gly) single nucleotide variant Inborn genetic diseases [RCV003349164] Chr7:11481979 [GRCh38]
Chr7:11521606 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3(chr7:11017837-11580072)x3 copy number gain not provided [RCV003484677] Chr7:11017837..11580072 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.2487G>A (p.Ala829=) single nucleotide variant not provided [RCV003436658] Chr7:11462025 [GRCh38]
Chr7:11501652 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.4775_4779dup (p.Phe1594fs) duplication THSD7A-related condition [RCV003412122] Chr7:11379091..11379092 [GRCh38]
Chr7:11418718..11418719 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.526T>C (p.Tyr176His) single nucleotide variant THSD7A-related condition [RCV003397463] Chr7:11636626 [GRCh38]
Chr7:11676253 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.77T>C (p.Leu26Pro) single nucleotide variant not provided [RCV003491669] Chr7:11831870 [GRCh38]
Chr7:11871496 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_015204.3(THSD7A):c.80CGCTGC[2] (p.27PL[2]) microsatellite THSD7A-related condition [RCV003964488] Chr7:11831844..11831855 [GRCh38]
Chr7:11871470..11871481 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.1925C>T (p.Thr642Met) single nucleotide variant THSD7A-related condition [RCV003922257] Chr7:11481880 [GRCh38]
Chr7:11521507 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.3941T>C (p.Val1314Ala) single nucleotide variant THSD7A-related condition [RCV003952097] Chr7:11407031 [GRCh38]
Chr7:11446658 [GRCh37]
Chr7:7p21.3		 likely benign
NM_015204.3(THSD7A):c.3244-10A>C single nucleotide variant THSD7A-related condition [RCV003956810] Chr7:11426681 [GRCh38]
Chr7:11466308 [GRCh37]
Chr7:7p21.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1967
Count of miRNA genes:977
Interacting mature miRNAs:1146
Transcripts:ENST00000408005, ENST00000423059, ENST00000480061, ENST00000497575
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D7S513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,651,350 - 11,651,544UniSTSGRCh37
GRCh37711,651,346 - 11,651,529UniSTSGRCh37
Build 36711,617,875 - 11,618,069RGDNCBI36
Celera711,626,161 - 11,626,330UniSTS
Celera711,626,165 - 11,626,345RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,509,549 - 11,509,733UniSTS
HuRef711,509,545 - 11,509,718UniSTS
CRA_TCAGchr7v2711,704,753 - 11,704,933UniSTS
CRA_TCAGchr7v2711,704,749 - 11,704,918UniSTS
Marshfield Genetic Map717.74RGD
deCODE Assembly Map722.62UniSTS
Stanford-G3 RH Map7432.0UniSTS
Whitehead-RH Map750.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7180.4UniSTS
GeneMap99-G3 RH Map7432.0UniSTS
D7S1926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,419,145 - 11,419,248UniSTSGRCh37
Build 36711,385,670 - 11,385,773RGDNCBI36
Celera711,393,934 - 11,394,037RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,277,410 - 11,277,513UniSTS
CRA_TCAGchr7v2711,472,550 - 11,472,653UniSTS
SHGC-24260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,410,140 - 11,410,242UniSTSGRCh37
Build 36711,376,665 - 11,376,767RGDNCBI36
Celera711,384,924 - 11,385,026RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,268,399 - 11,268,501UniSTS
CRA_TCAGchr7v2711,463,539 - 11,463,641UniSTS
Stanford-G3 RH Map7419.0UniSTS
NCBI RH Map7179.4UniSTS
GeneMap99-G3 RH Map7419.0UniSTS
RH36535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,486,859 - 11,487,051UniSTSGRCh37
Build 36711,453,384 - 11,453,576RGDNCBI36
Celera711,461,654 - 11,461,846RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,345,129 - 11,345,321UniSTS
CRA_TCAGchr7v2711,540,274 - 11,540,466UniSTS
GeneMap99-GB4 RH Map763.85UniSTS
NCBI RH Map7182.1UniSTS
SHGC-55960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,520,228 - 11,520,364UniSTSGRCh37
Build 36711,486,753 - 11,486,889RGDNCBI36
Celera711,495,032 - 11,495,168RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,378,503 - 11,378,639UniSTS
CRA_TCAGchr7v2711,573,652 - 11,573,788UniSTS
GeneMap99-GB4 RH Map763.85UniSTS
Whitehead-RH Map750.0UniSTS
NCBI RH Map7182.1UniSTS
SHGC-55964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,411,399 - 11,411,524UniSTSGRCh37
Build 36711,377,924 - 11,378,049RGDNCBI36
Celera711,386,183 - 11,386,308RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,269,659 - 11,269,784UniSTS
CRA_TCAGchr7v2711,464,799 - 11,464,924UniSTS
GeneMap99-GB4 RH Map760.01UniSTS
Whitehead-RH Map750.1UniSTS
RH16411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,860,664 - 11,860,810UniSTSGRCh37
GRCh37136,758,206 - 36,759,507UniSTSGRCh37
Build 36711,827,189 - 11,827,335RGDNCBI36
Celera135,033,285 - 35,034,602UniSTS
Celera711,835,379 - 11,835,525RGD
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1p34.3UniSTS
HuRef711,718,692 - 11,718,838UniSTS
HuRef134,874,382 - 34,875,703UniSTS
CRA_TCAGchr7v2711,913,929 - 11,914,075UniSTS
GeneMap99-GB4 RH Map737.03UniSTS
G42148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,601,999 - 11,602,342UniSTSGRCh37
Build 36711,568,524 - 11,568,867RGDNCBI36
Celera711,576,815 - 11,577,158RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,460,362 - 11,460,705UniSTS
CRA_TCAGchr7v2711,655,403 - 11,655,746UniSTS
G42152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,602,289 - 11,602,598UniSTSGRCh37
Build 36711,568,814 - 11,569,123RGDNCBI36
Celera711,577,105 - 11,577,414RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,460,652 - 11,460,961UniSTS
CRA_TCAGchr7v2711,655,693 - 11,656,002UniSTS
SHGC-79924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,644,341 - 11,644,622UniSTSGRCh37
Build 36711,610,866 - 11,611,147RGDNCBI36
Celera711,619,155 - 11,619,436RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,502,539 - 11,502,820UniSTS
CRA_TCAGchr7v2711,697,744 - 11,698,025UniSTS
SHGC-81239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,698,430 - 11,698,778UniSTSGRCh37
Build 36711,664,955 - 11,665,303RGDNCBI36
Celera711,673,222 - 11,673,570RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,556,634 - 11,556,982UniSTS
CRA_TCAGchr7v2711,751,812 - 11,752,160UniSTS
G60172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,474,419 - 11,474,752UniSTSGRCh37
Build 36711,440,944 - 11,441,277RGDNCBI36
Celera711,449,214 - 11,449,547RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,332,689 - 11,333,022UniSTS
CRA_TCAGchr7v2711,527,834 - 11,528,167UniSTS
RH68696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,569,838 - 11,569,958UniSTSGRCh37
Build 36711,536,363 - 11,536,483RGDNCBI36
Celera711,544,653 - 11,544,773RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,428,191 - 11,428,311UniSTS
CRA_TCAGchr7v2711,623,258 - 11,623,378UniSTS
GeneMap99-GB4 RH Map763.85UniSTS
NCBI RH Map7182.1UniSTS
AFM217yc5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,651,346 - 11,651,553UniSTSGRCh37
Build 36711,617,871 - 11,618,078RGDNCBI36
Celera711,626,161 - 11,626,354RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,509,545 - 11,509,742UniSTS
CRA_TCAGchr7v2711,704,749 - 11,704,942UniSTS
GeneMap99-G3 RH Map7432.0UniSTS
SHGC-55969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,821,808 - 11,821,957UniSTSGRCh37
Build 36711,788,333 - 11,788,482RGDNCBI36
Celera711,796,555 - 11,796,704RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,679,848 - 11,679,997UniSTS
CRA_TCAGchr7v2711,875,088 - 11,875,237UniSTS
GeneMap99-GB4 RH Map764.16UniSTS
Whitehead-RH Map751.0UniSTS
NCBI RH Map7186.7UniSTS
STS-N22309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,444,796 - 11,444,966UniSTSGRCh37
Build 36711,411,321 - 11,411,491RGDNCBI36
Celera711,419,587 - 11,419,757RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,303,063 - 11,303,233UniSTS
CRA_TCAGchr7v2711,498,209 - 11,498,379UniSTS
GeneMap99-GB4 RH Map763.85UniSTS
NCBI RH Map7182.1UniSTS
STS-R79793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,414,464 - 11,414,582UniSTSGRCh37
Build 36711,380,989 - 11,381,107RGDNCBI36
Celera711,389,253 - 11,389,371RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,272,729 - 11,272,847UniSTS
CRA_TCAGchr7v2711,467,869 - 11,467,987UniSTS
GeneMap99-GB4 RH Map757.88UniSTS
SHGC-55965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,521,173 - 11,521,301UniSTSGRCh37
Build 36711,487,698 - 11,487,826RGDNCBI36
Celera711,495,975 - 11,496,103RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,379,446 - 11,379,574UniSTS
CRA_TCAGchr7v2711,574,597 - 11,574,725UniSTS
GeneMap99-GB4 RH Map757.88UniSTS
Whitehead-RH Map750.1UniSTS
D7S1907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,511,877 - 11,511,991UniSTSGRCh37
Build 36711,478,402 - 11,478,516RGDNCBI36
Celera711,486,671 - 11,486,785RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,370,142 - 11,370,256UniSTS
CRA_TCAGchr7v2711,565,291 - 11,565,405UniSTS
RH70094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37711,629,702 - 11,629,827UniSTSGRCh37
Build 36711,596,227 - 11,596,352RGDNCBI36
Celera711,604,515 - 11,604,640RGD
Cytogenetic Map7p21.3UniSTS
HuRef711,487,899 - 11,488,024UniSTS
CRA_TCAGchr7v2711,683,104 - 11,683,229UniSTS
GeneMap99-GB4 RH Map763.85UniSTS
NCBI RH Map7182.1UniSTS
D7S513  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p21.3UniSTS
Marshfield Genetic Map717.74UniSTS
deCODE Assembly Map722.62UniSTS
Whitehead-RH Map750.1UniSTS
Whitehead-YAC Contig Map7 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 9 11 5 10 7 494 2 516 96 80 36 38 462 2
Low 1996 1570 1424 342 493 208 2724 1086 3053 269 1237 1428 139 1166 1398 2
Below cutoff 364 1238 283 271 812 245 1101 1091 146 32 98 95 29 1 928 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA297188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA995609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF111945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000408005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl711,374,620 - 11,379,755 (-)Ensembl
RefSeq Acc Id: ENST00000423059   ⟹   ENSP00000406482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl711,370,365 - 11,832,198 (-)Ensembl
RefSeq Acc Id: ENST00000480061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl711,636,612 - 11,751,353 (-)Ensembl
RefSeq Acc Id: ENST00000497575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl711,446,302 - 11,543,059 (-)Ensembl
RefSeq Acc Id: ENST00000617773   ⟹   ENSP00000481440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl711,370,437 - 11,832,198 (-)Ensembl
RefSeq Acc Id: NM_015204   ⟹   NP_056019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,832,198 (-)NCBI
GRCh37711,410,062 - 11,871,824 (-)RGD
Build 36711,380,695 - 11,838,349 (-)NCBI Archive
Celera711,384,846 - 11,846,544 (-)RGD
HuRef711,268,321 - 11,729,851 (-)RGD
CHM1_1711,410,667 - 11,872,448 (-)NCBI
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBI
CRA_TCAGchr7v2711,463,461 - 11,925,090 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006715659   ⟹   XP_006715722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,832,198 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715660   ⟹   XP_006715723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,832,198 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715662   ⟹   XP_006715725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,832,198 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420039   ⟹   XP_047275995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,832,198 (-)NCBI
RefSeq Acc Id: XM_047420040   ⟹   XP_047275996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38711,370,365 - 11,751,402 (-)NCBI
RefSeq Acc Id: XM_054357559   ⟹   XP_054213534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBI
RefSeq Acc Id: XM_054357560   ⟹   XP_054213535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0711,501,328 - 11,861,394 (-)NCBI
RefSeq Acc Id: XM_054357561   ⟹   XP_054213536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBI
RefSeq Acc Id: XM_054357562   ⟹   XP_054213537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBI
RefSeq Acc Id: XM_054357563   ⟹   XP_054213538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0711,501,328 - 11,963,096 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_056019   ⟸   NM_015204
- Peptide Label: precursor
- UniProtKB: Q9UPZ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715725   ⟸   XM_006715662
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006715723   ⟸   XM_006715660
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006715722   ⟸   XM_006715659
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000406482   ⟸   ENST00000423059
RefSeq Acc Id: ENSP00000481440   ⟸   ENST00000617773
RefSeq Acc Id: XP_047275995   ⟸   XM_047420039
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275996   ⟸   XM_047420040
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213538   ⟸   XM_054357563
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213537   ⟸   XM_054357562
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213534   ⟸   XM_054357559
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213536   ⟸   XM_054357561
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213535   ⟸   XM_054357560
- Peptide Label: isoform X2
Protein Domains
TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPZ6-F1-model_v2 AlphaFold Q9UPZ6 1-1657 view protein structure

Promoters
RGD ID:6806283
Promoter ID:HG_KWN:56339
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000262042,   ENST00000408005,   NM_015204
Position:
Human AssemblyChrPosition (strand)Source
Build 36711,837,856 - 11,838,356 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22207 AgrOrtholog
COSMIC THSD7A COSMIC
Ensembl Genes ENSG00000005108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000423059 ENTREZGENE
  ENST00000423059.9 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000005108 GTEx
HGNC ID HGNC:22207 ENTREZGENE
Human Proteome Map THSD7A Human Proteome Map
InterPro TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
  TSP1_spondin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:221981 UniProtKB/Swiss-Prot
NCBI Gene 221981 ENTREZGENE
OMIM 612249 OMIM
PANTHER SPONDIN UniProtKB/Swiss-Prot
  TSP1_SPONDIN DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam TSP1_ADAMTS UniProtKB/Swiss-Prot
  TSP1_spondin UniProtKB/Swiss-Prot
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA162405715 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot
SMART TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot
UniProt Q9UPZ6 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 THSD7A  thrombospondin type 1 domain containing 7A    thrombospondin, type I, domain containing 7A  Symbol and/or name change 5135510 APPROVED