THSD1 (thrombospondin type 1 domain containing 1) - Rat Genome Database

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Gene: THSD1 (thrombospondin type 1 domain containing 1) Homo sapiens
Analyze
Symbol: THSD1
Name: thrombospondin type 1 domain containing 1
RGD ID: 1315930
HGNC Page HGNC:17754
Description: Enables extracellular matrix binding activity. Involved in focal adhesion assembly. Located in cytosol; endosome; and focal adhesion. Implicated in hereditary lymphedema and intracranial berry aneurysm 12.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 4833423O18Rik; ANIB12; LMPHM13; MGC74971; thrombospondin type-1 domain-containing protein 1; thrombospondin, type I, domain 1; thrombospondin, type I, domain containing 1; TMTSP; transmembrane molecule with thrombospondin module; UNQ3010
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: THSD1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381352,377,167 - 52,406,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1352,377,167 - 52,416,373 (-)EnsemblGRCh38hg38GRCh38
GRCh371352,951,302 - 52,980,307 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361351,849,303 - 51,878,321 (-)NCBINCBI36Build 36hg18NCBI36
Build 341351,849,304 - 51,878,321NCBI
Celera1334,016,568 - 34,045,895 (+)NCBICelera
Cytogenetic Map13q14.3NCBI
HuRef1333,689,629 - 33,718,949 (-)NCBIHuRef
CHM1_11352,919,377 - 52,948,686 (-)NCBICHM1_1
T2T-CHM13v2.01351,591,989 - 51,620,993 (-)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

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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7687569   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15057823   PMID:15371459   PMID:15489334   PMID:17047544   PMID:18029348   PMID:18403638   PMID:21873635   PMID:22664866  
PMID:26822228   PMID:27895300   PMID:29069646   PMID:30055085   PMID:33569873   PMID:34079125   PMID:38396816   PMID:39231216  


Genomics

Comparative Map Data
THSD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381352,377,167 - 52,406,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1352,377,167 - 52,416,373 (-)EnsemblGRCh38hg38GRCh38
GRCh371352,951,302 - 52,980,307 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361351,849,303 - 51,878,321 (-)NCBINCBI36Build 36hg18NCBI36
Build 341351,849,304 - 51,878,321NCBI
Celera1334,016,568 - 34,045,895 (+)NCBICelera
Cytogenetic Map13q14.3NCBI
HuRef1333,689,629 - 33,718,949 (-)NCBIHuRef
CHM1_11352,919,377 - 52,948,686 (-)NCBICHM1_1
T2T-CHM13v2.01351,591,989 - 51,620,993 (-)NCBIT2T-CHM13v2.0
Thsd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39822,711,623 - 22,752,973 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl822,717,329 - 22,751,350 (+)EnsemblGRCm39 Ensembl
GRCm38822,220,938 - 22,262,957 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,227,313 - 22,261,334 (+)EnsemblGRCm38mm10GRCm38
MGSCv37823,348,972 - 23,370,361 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36823,704,045 - 23,725,434 (+)NCBIMGSCv36mm8
Celera823,731,367 - 23,752,587 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map811.16NCBI
Thsd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81676,473,026 - 76,507,404 (-)NCBIGRCr8
mRatBN7.21669,771,408 - 69,804,844 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1669,771,408 - 69,801,504 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,045,087 - 75,075,180 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01678,482,659 - 78,513,813 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01673,731,938 - 73,763,094 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01674,680,621 - 74,712,368 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1674,680,621 - 74,710,704 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01674,316,449 - 74,346,278 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41674,423,526 - 74,453,530 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11674,425,343 - 74,443,897 (-)NCBI
Celera1667,660,826 - 67,690,866 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Thsd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554315,472,287 - 5,495,995 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554315,472,209 - 5,495,937 (+)NCBIChiLan1.0ChiLan1.0
THSD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21453,746,186 - 53,775,503 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11352,390,647 - 52,421,953 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01333,442,480 - 33,472,259 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11352,301,206 - 52,330,504 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1352,301,206 - 52,330,504 (-)Ensemblpanpan1.1panPan2
THSD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.125197,294 - 223,804 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl25201,301 - 223,560 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha25317,148 - 342,957 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.025300,765 - 326,595 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl25300,762 - 326,593 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.125181,718 - 207,474 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.025196,312 - 222,144 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.025264,131 - 289,945 (+)NCBIUU_Cfam_GSD_1.0
Thsd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945161,441,192 - 161,467,900 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365654,925,237 - 4,954,054 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365654,925,400 - 4,952,210 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THSD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1115,668,813 - 15,697,872 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11115,668,435 - 15,698,031 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21116,006,405 - 16,035,636 (+)NCBISscrofa10.2Sscrofa10.2susScr3
THSD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1330,152,706 - 30,180,223 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl330,153,364 - 30,183,302 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605713,630,583 - 13,660,217 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thsd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247481,846,249 - 1,875,156 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247481,843,361 - 1,875,748 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THSD1
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
NM_018676.3(THSD1):c.930G>A (p.Met310Ile) single nucleotide variant Malignant melanoma [RCV000062685] Chr13:52397323 [GRCh38]
Chr13:52971458 [GRCh37]
Chr13:51869459 [NCBI36]
Chr13:13q14.3		 not provided
NM_018676.3(THSD1):c.1181-1230C>T single nucleotide variant Lung cancer [RCV000097953] Chr13:52380019 [GRCh38]
Chr13:52954154 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) single nucleotide variant Lymphatic malformation 13 [RCV003224867]|Non-immune hydrops fetalis [RCV000170576] Chr13:52397636 [GRCh38]
Chr13:52971771 [GRCh37]
Chr13:13q14.3		 pathogenic|likely pathogenic|likely benign
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) single nucleotide variant Lymphatic malformation 13 [RCV003224868]|Non-immune hydrops fetalis [RCV000170586] Chr13:52397583 [GRCh38]
Chr13:52971718 [GRCh37]
Chr13:13q14.3		 pathogenic|likely pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3 copy number gain See cases [RCV000134421] Chr13:52381559..54493354 [GRCh38]
Chr13:52955694..55067489 [GRCh37]
Chr13:51853695..53965490 [NCBI36]
Chr13:13q14.3		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 copy number loss not provided [RCV000509218] Chr13:51786657..54834098 [GRCh37]
Chr13:13q14.3		 not provided
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_018676.4(THSD1):c.697C>G (p.Pro233Ala) single nucleotide variant not specified [RCV004288744] Chr13:52397556 [GRCh38]
Chr13:52971691 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.243G>T (p.Gln81His) single nucleotide variant not specified [RCV004305853] Chr13:52398010 [GRCh38]
Chr13:52972145 [GRCh37]
Chr13:13q14.3		 uncertain significance
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3 copy number gain not provided [RCV000683569] Chr13:51939350..66854666 [GRCh37]
Chr13:13q14.3-21.32		 likely pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.3(chr13:52801010-53167513)x3 copy number gain not provided [RCV000750725] Chr13:52801010..53167513 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.1714T>C (p.Leu572=) single nucleotide variant not provided [RCV000965258] Chr13:52378256 [GRCh38]
Chr13:52952391 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.1788G>C (p.Ala596=) single nucleotide variant not provided [RCV000884742] Chr13:52378182 [GRCh38]
Chr13:52952317 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.2056C>T (p.Arg686Trp) single nucleotide variant not specified [RCV004317287] Chr13:52377914 [GRCh38]
Chr13:52952049 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2		 uncertain significance
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) single nucleotide variant Aneurysm, intracranial berry, 12 [RCV000991274] Chr13:52378622 [GRCh38]
Chr13:52952757 [GRCh37]
Chr13:13q14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.3(chr13:52538548-53354011)x3 copy number gain not provided [RCV000847753] Chr13:52538548..53354011 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13q14.3(chr13:52912656-52993619)x3 copy number gain not provided [RCV000847706] Chr13:52912656..52993619 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1181-9T>G single nucleotide variant THSD1-related disorder [RCV003926072]|not provided [RCV000957902] Chr13:52378798 [GRCh38]
Chr13:52952933 [GRCh37]
Chr13:13q14.3		 benign|likely benign
NM_018676.4(THSD1):c.2344G>T (p.Asp782Tyr) single nucleotide variant not specified [RCV004304888] Chr13:52377626 [GRCh38]
Chr13:52951761 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3		 pathogenic
NM_018676.4(THSD1):c.1051C>T (p.Gln351Ter) single nucleotide variant Aortic aneurysm [RCV001724756] Chr13:52386157 [GRCh38]
Chr13:52960292 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3 copy number gain See cases [RCV002285117] Chr13:52535544..53362733 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3 copy number gain not provided [RCV001270648] Chr13:52170957..57713087 [GRCh37]
Chr13:13q14.3-21.1		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_018676.4(THSD1):c.1619dup (p.Met540fs) duplication Vascular dementia [RCV002051762] Chr13:52378350..52378351 [GRCh38]
Chr13:52952485..52952486 [GRCh37]
Chr13:13q14.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
NM_018676.4(THSD1):c.1021+5G>A single nucleotide variant Aneurysm, intracranial berry, 12 [RCV003153218] Chr13:52397227 [GRCh38]
Chr13:52971362 [GRCh37]
Chr13:13q14.3		 uncertain significance
C206Y single nucleotide variant Lymphatic malformation 13 [RCV003152350]   pathogenic
NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter) single nucleotide variant Lymphatic malformation 13 [RCV003152352] Chr13:52378409 [GRCh38]
Chr13:52952544 [GRCh37]
Chr13:13q14.3		 pathogenic
NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs) deletion Lymphatic malformation 13 [RCV003152353] Chr13:52378641..52378648 [GRCh38]
Chr13:52952776..52952783 [GRCh37]
Chr13:13q14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs) microsatellite not provided [RCV003883803]|not specified [RCV002285082] Chr13:52378340..52378343 [GRCh38]
Chr13:52952475..52952478 [GRCh37]
Chr13:13q14.3		 pathogenic|likely pathogenic
R224* single nucleotide variant Lymphatic malformation 13 [RCV003152351]   pathogenic
NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter) single nucleotide variant Lymphatic malformation 13 [RCV004555902]|not specified [RCV002470110] Chr13:52377974 [GRCh38]
Chr13:52952109 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1508C>T (p.Pro503Leu) single nucleotide variant not specified [RCV004097943] Chr13:52378462 [GRCh38]
Chr13:52952597 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.802G>A (p.Val268Ile) single nucleotide variant not specified [RCV004236148] Chr13:52397451 [GRCh38]
Chr13:52971586 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2363G>C (p.Ser788Thr) single nucleotide variant not specified [RCV004236230] Chr13:52377607 [GRCh38]
Chr13:52951742 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.838A>G (p.Arg280Gly) single nucleotide variant not specified [RCV004151107] Chr13:52397415 [GRCh38]
Chr13:52971550 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.211A>T (p.Thr71Ser) single nucleotide variant not specified [RCV004222225] Chr13:52398042 [GRCh38]
Chr13:52972177 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.524T>G (p.Leu175Arg) single nucleotide variant not specified [RCV004210081] Chr13:52397729 [GRCh38]
Chr13:52971864 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1783C>T (p.Pro595Ser) single nucleotide variant not specified [RCV004094141] Chr13:52378187 [GRCh38]
Chr13:52952322 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1087C>T (p.Arg363Cys) single nucleotide variant not specified [RCV004093536] Chr13:52386121 [GRCh38]
Chr13:52960256 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1784C>T (p.Pro595Leu) single nucleotide variant not specified [RCV004125439] Chr13:52378186 [GRCh38]
Chr13:52952321 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1003C>G (p.Leu335Val) single nucleotide variant not specified [RCV004129475] Chr13:52397250 [GRCh38]
Chr13:52971385 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1067G>A (p.Cys356Tyr) single nucleotide variant not specified [RCV004158924] Chr13:52386141 [GRCh38]
Chr13:52960276 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2447C>T (p.Ser816Leu) single nucleotide variant not specified [RCV004147949] Chr13:52377523 [GRCh38]
Chr13:52951658 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2186A>G (p.Tyr729Cys) single nucleotide variant not specified [RCV004104668] Chr13:52377784 [GRCh38]
Chr13:52951919 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2491G>C (p.Gly831Arg) single nucleotide variant not specified [RCV004176959] Chr13:52377479 [GRCh38]
Chr13:52951614 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.692C>T (p.Thr231Ile) single nucleotide variant not specified [RCV004165340] Chr13:52397561 [GRCh38]
Chr13:52971696 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.968G>A (p.Ser323Asn) single nucleotide variant not specified [RCV004260089] Chr13:52397285 [GRCh38]
Chr13:52971420 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1698G>A (p.Ala566=) single nucleotide variant not provided [RCV003222793] Chr13:52378272 [GRCh38]
Chr13:52952407 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.2327C>T (p.Ser776Phe) single nucleotide variant not specified [RCV004265638] Chr13:52377643 [GRCh38]
Chr13:52951778 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1763A>G (p.Lys588Arg) single nucleotide variant not specified [RCV004266618] Chr13:52378207 [GRCh38]
Chr13:52952342 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1250T>G (p.Val417Gly) single nucleotide variant not specified [RCV004279527] Chr13:52378720 [GRCh38]
Chr13:52952855 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1301C>T (p.Thr434Met) single nucleotide variant not specified [RCV004279679] Chr13:52378669 [GRCh38]
Chr13:52952804 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.442G>A (p.Gly148Ser) single nucleotide variant not provided [RCV004598639] Chr13:52397811 [GRCh38]
Chr13:52971946 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2281C>T (p.Arg761Trp) single nucleotide variant not provided [RCV003322058] Chr13:52377689 [GRCh38]
Chr13:52951824 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1019C>T (p.Thr340Ile) single nucleotide variant not specified [RCV004345376] Chr13:52397234 [GRCh38]
Chr13:52971369 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.892G>T (p.Glu298Ter) single nucleotide variant Lymphatic malformation 13 [RCV003333901] Chr13:52397361 [GRCh38]
Chr13:52971496 [GRCh37]
Chr13:13q14.3		 pathogenic
NM_018676.4(THSD1):c.464T>C (p.Leu155Pro) single nucleotide variant not provided [RCV003393328] Chr13:52397789 [GRCh38]
Chr13:52971924 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1788G>A (p.Ala596=) single nucleotide variant THSD1-related disorder [RCV003919241]|not provided [RCV003456853] Chr13:52378182 [GRCh38]
Chr13:52952317 [GRCh37]
Chr13:13q14.3		 likely benign
GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1 copy number loss not provided [RCV003483182] Chr13:51768837..54900165 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1799G>A (p.Gly600Glu) single nucleotide variant not provided [RCV003393327] Chr13:52378171 [GRCh38]
Chr13:52952306 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.2237G>A (p.Gly746Glu) single nucleotide variant THSD1-related disorder [RCV003408460] Chr13:52377733 [GRCh38]
Chr13:52951868 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2115T>C (p.Phe705=) single nucleotide variant not provided [RCV003390374] Chr13:52377855 [GRCh38]
Chr13:52951990 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1791C>T (p.Val597=) single nucleotide variant THSD1-related disorder [RCV003941432] Chr13:52378179 [GRCh38]
Chr13:52952314 [GRCh37]
Chr13:13q14.3		 likely benign
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1 copy number loss not provided [RCV004442840] Chr13:50181731..54350061 [GRCh37]
Chr13:13q14.2-14.3		 uncertain significance
NM_018676.4(THSD1):c.1425C>T (p.Arg475=) single nucleotide variant THSD1-related disorder [RCV003917048] Chr13:52378545 [GRCh38]
Chr13:52952680 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.2303A>G (p.Lys768Arg) single nucleotide variant THSD1-related disorder [RCV003917235] Chr13:52377667 [GRCh38]
Chr13:52951802 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.702T>C (p.Ile234=) single nucleotide variant THSD1-related disorder [RCV003961523] Chr13:52397551 [GRCh38]
Chr13:52971686 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1314G>A (p.Arg438=) single nucleotide variant THSD1-related disorder [RCV003959215] Chr13:52378656 [GRCh38]
Chr13:52952791 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.2218C>T (p.Leu740Phe) single nucleotide variant not provided [RCV003886969] Chr13:52377752 [GRCh38]
Chr13:52951887 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1944C>T (p.Ala648=) single nucleotide variant THSD1-related disorder [RCV003964054] Chr13:52378026 [GRCh38]
Chr13:52952161 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.681C>T (p.Val227=) single nucleotide variant THSD1-related disorder [RCV003929431] Chr13:52397572 [GRCh38]
Chr13:52971707 [GRCh37]
Chr13:13q14.3		 likely benign
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
NM_018676.4(THSD1):c.1053G>A (p.Gln351=) single nucleotide variant THSD1-related disorder [RCV003949293] Chr13:52386155 [GRCh38]
Chr13:52960290 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.471G>A (p.Pro157=) single nucleotide variant THSD1-related disorder [RCV003932025] Chr13:52397782 [GRCh38]
Chr13:52971917 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.701T>C (p.Ile234Thr) single nucleotide variant THSD1-related disorder [RCV003914238] Chr13:52397552 [GRCh38]
Chr13:52971687 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.816C>T (p.Val272=) single nucleotide variant THSD1-related disorder [RCV003914337] Chr13:52397437 [GRCh38]
Chr13:52971572 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.91G>A (p.Glu31Lys) single nucleotide variant not provided [RCV003887492] Chr13:52398162 [GRCh38]
Chr13:52972297 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1530C>T (p.Ala510=) single nucleotide variant THSD1-related disorder [RCV003917185] Chr13:52378440 [GRCh38]
Chr13:52952575 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1632T>C (p.Gly544=) single nucleotide variant THSD1-related disorder [RCV003956675] Chr13:52378338 [GRCh38]
Chr13:52952473 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1356C>T (p.Asn452=) single nucleotide variant THSD1-related disorder [RCV003959669] Chr13:52378614 [GRCh38]
Chr13:52952749 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.2136C>T (p.Phe712=) single nucleotide variant THSD1-related disorder [RCV003969536] Chr13:52377834 [GRCh38]
Chr13:52951969 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.1389G>A (p.Ser463=) single nucleotide variant THSD1-related disorder [RCV003957105] Chr13:52378581 [GRCh38]
Chr13:52952716 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.936G>A (p.Lys312=) single nucleotide variant THSD1-related disorder [RCV003922139] Chr13:52397317 [GRCh38]
Chr13:52971452 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.495C>T (p.Ile165=) single nucleotide variant THSD1-related disorder [RCV003979647] Chr13:52397758 [GRCh38]
Chr13:52971893 [GRCh37]
Chr13:13q14.3		 benign
NM_018676.4(THSD1):c.1449C>T (p.Asp483=) single nucleotide variant THSD1-related disorder [RCV003951622] Chr13:52378521 [GRCh38]
Chr13:52952656 [GRCh37]
Chr13:13q14.3		 likely benign
NM_018676.4(THSD1):c.31C>G (p.Leu11Val) single nucleotide variant not specified [RCV004466984] Chr13:52402570 [GRCh38]
Chr13:52976705 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2293C>A (p.Pro765Thr) single nucleotide variant not specified [RCV004466983] Chr13:52377677 [GRCh38]
Chr13:52951812 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2279G>T (p.Arg760Leu) single nucleotide variant not specified [RCV004466982] Chr13:52377691 [GRCh38]
Chr13:52951826 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1772T>G (p.Phe591Cys) single nucleotide variant not specified [RCV004466980] Chr13:52378198 [GRCh38]
Chr13:52952333 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.61C>T (p.Leu21Phe) single nucleotide variant not specified [RCV004466986] Chr13:52398192 [GRCh38]
Chr13:52972327 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.2210A>G (p.Lys737Arg) single nucleotide variant not specified [RCV004466981] Chr13:52377760 [GRCh38]
Chr13:52951895 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1243G>A (p.Val415Met) single nucleotide variant not specified [RCV004466979] Chr13:52378727 [GRCh38]
Chr13:52952862 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.496G>A (p.Val166Ile) single nucleotide variant not specified [RCV004466985] Chr13:52397757 [GRCh38]
Chr13:52971892 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1577C>T (p.Pro526Leu) single nucleotide variant not specified [RCV004668611] Chr13:52378393 [GRCh38]
Chr13:52952528 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1498C>T (p.Arg500Trp) single nucleotide variant not specified [RCV004668607] Chr13:52378472 [GRCh38]
Chr13:52952607 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1909G>T (p.Gly637Trp) single nucleotide variant not specified [RCV004668608] Chr13:52378061 [GRCh38]
Chr13:52952196 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.439G>A (p.Val147Met) single nucleotide variant not specified [RCV004668609] Chr13:52397814 [GRCh38]
Chr13:52971949 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.994G>C (p.Glu332Gln) single nucleotide variant not specified [RCV004668610] Chr13:52397259 [GRCh38]
Chr13:52971394 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.22T>G (p.Phe8Val) single nucleotide variant not specified [RCV004676863] Chr13:52402579 [GRCh38]
Chr13:52976714 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.1075G>A (p.Gly359Ser) single nucleotide variant not specified [RCV004668612] Chr13:52386133 [GRCh38]
Chr13:52960268 [GRCh37]
Chr13:13q14.3		 uncertain significance
NM_018676.4(THSD1):c.670C>G (p.Arg224Gly) single nucleotide variant THSD1-related disorder [RCV004755402] Chr13:52397583 [GRCh38]
Chr13:52971718 [GRCh37]
Chr13:13q14.3		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:223
Count of miRNA genes:74
Interacting mature miRNAs:76
Transcripts:ENST00000258613, ENST00000349258, ENST00000544466
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2292823PRSTS88_HProstate tumor susceptibility QTL 88 (human)Prostate tumor susceptibility134153205867532058Human
2289192BW359_HBody weight QTL 359 (human)0.0344Body fat amountpercent fat134998940475989404Human
406891834GWAS540810_Hthrombospondin type-1 domain-containing protein 1 measurement QTL GWAS540810 (human)6e-33thrombospondin type-1 domain-containing protein 1 measurement135239738252397383Human
1643298BW212_HBody weight QTL 212 (human)2.670.0002Body weightBMI134153205867532058Human
406944895GWAS593871_Hthrombospondin type-1 domain-containing protein 1 measurement QTL GWAS593871 (human)3e-338thrombospondin type-1 domain-containing protein 1 measurement135239738252397383Human

Markers in Region
RH66294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371352,951,413 - 52,951,539UniSTSGRCh37
GRCh371352,741,954 - 52,742,082UniSTSGRCh37
Build 361351,639,955 - 51,640,083RGDNCBI36
Celera1334,045,658 - 34,045,784UniSTS
Celera1333,790,598 - 33,790,726RGD
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map13qUniSTS
HuRef1333,689,740 - 33,689,866UniSTS
HuRef1333,529,982 - 33,530,110UniSTS
GeneMap99-GB4 RH Map13155.53UniSTS
NCBI RH Map13492.3UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
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Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2429 2788 2240 4939 1722 2341 4 621 1829 463 2265 7165 6339 51 3708 846 1728 1610 171

Sequence


Ensembl Acc Id: ENST00000258613   ⟹   ENSP00000258613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1352,377,167 - 52,406,172 (-)Ensembl
Ensembl Acc Id: ENST00000349258   ⟹   ENSP00000340650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1352,377,167 - 52,406,494 (-)Ensembl
Ensembl Acc Id: ENST00000648254   ⟹   ENSP00000497520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1352,377,199 - 52,416,373 (-)Ensembl
RefSeq Acc Id: NM_018676   ⟹   NP_061146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,377,167 - 52,406,172 (-)NCBI
GRCh371352,934,506 - 52,980,629 (-)NCBI
Build 361351,849,303 - 51,878,321 (-)NCBI Archive
Celera1334,016,568 - 34,045,895 (+)RGD
HuRef1333,689,629 - 33,718,949 (-)ENTREZGENE
CHM1_11352,919,377 - 52,948,686 (-)NCBI
T2T-CHM13v2.01351,591,989 - 51,620,993 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199263   ⟹   NP_954872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,377,167 - 52,406,172 (-)NCBI
GRCh371352,934,506 - 52,980,629 (-)NCBI
Build 361351,849,303 - 51,878,321 (-)NCBI Archive
Celera1334,016,568 - 34,045,895 (+)RGD
HuRef1333,689,629 - 33,718,949 (-)ENTREZGENE
CHM1_11352,919,377 - 52,948,686 (-)NCBI
T2T-CHM13v2.01351,591,989 - 51,620,993 (-)NCBI
Sequence:
RefSeq Acc Id: NP_061146   ⟸   NM_018676
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6P3U1 (UniProtKB/Swiss-Prot),   B2RCF5 (UniProtKB/Swiss-Prot),   A2A3J3 (UniProtKB/Swiss-Prot),   Q6UXZ2 (UniProtKB/Swiss-Prot),   Q9NS62 (UniProtKB/Swiss-Prot),   B3KTY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954872   ⟸   NM_199263
- Peptide Label: isoform 2 precursor
- UniProtKB: B3KTY7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497520   ⟸   ENST00000648254
Ensembl Acc Id: ENSP00000340650   ⟸   ENST00000349258
Ensembl Acc Id: ENSP00000258613   ⟸   ENST00000258613
Protein Domains
TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NS62-F1-model_v2 AlphaFold Q9NS62 1-852 view protein structure

Promoters
RGD ID:6791156
Promoter ID:HG_KWN:17961
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000378095,   UC001VGO.1,   UC001VGP.1,   UC010ADZ.1,   UC010AEA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361351,878,096 - 51,878,596 (-)MPROMDB
RGD ID:7226519
Promoter ID:EPDNEW_H19005
Type:initiation region
Name:THSD1_1
Description:thrombospondin type 1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381352,406,139 - 52,406,199EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17754 AgrOrtholog
COSMIC THSD1 COSMIC
Ensembl Genes ENSG00000136114 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000258613 ENTREZGENE
  ENST00000258613.5 UniProtKB/Swiss-Prot
  ENST00000349258 ENTREZGENE
  ENST00000349258.8 UniProtKB/Swiss-Prot
  ENST00000648254.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000136114 GTEx
HGNC ID HGNC:17754 ENTREZGENE
Human Proteome Map THSD1 Human Proteome Map
InterPro THSD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
KEGG Report hsa:55901 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55901 ENTREZGENE
OMIM 616821 OMIM
PANTHER PTHR16311 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA134937912 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot
SMART TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot
UniProt A2A3J3 ENTREZGENE
  B2RCF5 ENTREZGENE
  B3KTY7 ENTREZGENE, UniProtKB/TrEMBL
  Q6P3U1 ENTREZGENE
  Q6UXZ2 ENTREZGENE
  Q9NS62 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2A3J3 UniProtKB/Swiss-Prot
  B2RCF5 UniProtKB/Swiss-Prot
  Q6P3U1 UniProtKB/Swiss-Prot
  Q6UXZ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 THSD1  thrombospondin type 1 domain containing 1    thrombospondin, type I, domain containing 1  Symbol and/or name change 5135510 APPROVED