SBSPON (somatomedin B and thrombospondin type 1 domain containing) - Rat Genome Database

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Gene: SBSPON (somatomedin B and thrombospondin type 1 domain containing) Homo sapiens
Analyze
Symbol: SBSPON
Name: somatomedin B and thrombospondin type 1 domain containing
RGD ID: 1602645
HGNC Page HGNC:30362
Description: Predicted to be an extracellular matrix structural constituent. Located in collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C8orf84; FLJ40021; RPE spondin; RPE-spondin; RPESP; somatomedin B and thrombospondin, type 1 domain containing; somatomedin-B and thrombospondin type-1 domain-containing protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38873,064,543 - 73,093,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl873,064,543 - 73,124,088 (-)EnsemblGRCh38hg38GRCh38
GRCh37873,976,778 - 74,005,407 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,141,808 - 74,168,061 (-)NCBINCBI36Build 36hg18NCBI36
Celera869,973,957 - 70,002,409 (-)NCBICelera
Cytogenetic Map8q21.11NCBI
HuRef869,467,671 - 69,496,653 (-)NCBIHuRef
CHM1_1874,029,653 - 74,058,364 (-)NCBICHM1_1
T2T-CHM13v2.0873,493,598 - 73,522,530 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Hepatomegaly  (EXP)

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

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:12107410   PMID:12477932   PMID:14702039   PMID:20551380   PMID:22412388   PMID:22969067   PMID:25037231   PMID:27068509   PMID:27559042   PMID:28514442   PMID:33961781  


Genomics

Comparative Map Data
SBSPON
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38873,064,543 - 73,093,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl873,064,543 - 73,124,088 (-)EnsemblGRCh38hg38GRCh38
GRCh37873,976,778 - 74,005,407 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36874,141,808 - 74,168,061 (-)NCBINCBI36Build 36hg18NCBI36
Celera869,973,957 - 70,002,409 (-)NCBICelera
Cytogenetic Map8q21.11NCBI
HuRef869,467,671 - 69,496,653 (-)NCBIHuRef
CHM1_1874,029,653 - 74,058,364 (-)NCBICHM1_1
T2T-CHM13v2.0873,493,598 - 73,522,530 (-)NCBIT2T-CHM13v2.0
Sbspon
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39115,924,086 - 15,962,946 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl115,924,086 - 15,962,946 (-)EnsemblGRCm39 Ensembl
GRCm38115,853,862 - 15,892,722 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl115,853,862 - 15,892,722 (-)EnsemblGRCm38mm10GRCm38
MGSCv37115,843,943 - 15,882,803 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36115,839,076 - 15,877,936 (-)NCBIMGSCv36mm8
Celera115,798,996 - 15,837,907 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.89NCBI
Sbspon
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr858,186,004 - 8,216,576 (+)NCBIGRCr8
mRatBN7.253,402,763 - 3,433,338 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl53,402,648 - 3,435,420 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx55,520,177 - 5,550,817 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.057,159,058 - 7,189,701 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.056,856,180 - 6,887,020 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.052,813,004 - 2,847,697 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl52,813,131 - 2,843,483 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.052,802,976 - 2,833,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.452,516,220 - 2,547,152 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera52,998,696 - 3,033,376 (+)NCBICelera
Cytogenetic Map5q11NCBI
Sbspon
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554447,068,906 - 7,094,583 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554447,068,906 - 7,094,583 (+)NCBIChiLan1.0ChiLan1.0
SBSPON
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2788,811,771 - 88,840,669 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1864,441,478 - 64,470,347 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0869,602,230 - 69,632,306 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1871,249,079 - 71,279,468 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl871,249,079 - 71,279,468 (-)Ensemblpanpan1.1panPan2
SBSPON
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12921,710,640 - 21,737,007 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2921,712,267 - 21,736,943 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2921,975,499 - 22,001,657 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02921,820,582 - 21,846,794 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2921,822,209 - 21,846,888 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12921,878,707 - 21,904,840 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02921,915,271 - 21,941,482 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02922,196,170 - 22,222,329 (-)NCBIUU_Cfam_GSD_1.0
Sbspon
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530357,563,328 - 57,599,552 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366481,850,650 - 1,885,120 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366481,850,048 - 1,885,251 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SBSPON
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl462,756,342 - 62,791,609 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1462,756,262 - 62,791,621 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2468,303,793 - 68,336,205 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SBSPON
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1868,665,669 - 68,693,768 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl868,664,538 - 68,693,663 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603972,689,194 - 72,717,272 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sbspon
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474418,086,904 - 18,108,859 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474418,086,842 - 18,109,170 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SBSPON
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 copy number gain See cases [RCV000053655] Chr8:70948393..74353284 [GRCh38]
Chr8:71860628..75265519 [GRCh37]
Chr8:72023182..75428074 [NCBI36]
Chr8:8q13.3-21.11		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11		 pathogenic
NM_153225.3(SBSPON):c.342C>T (p.Pro114=) single nucleotide variant Malignant melanoma [RCV000068390] Chr8:73081086 [GRCh38]
Chr8:73993321 [GRCh37]
Chr8:74155875 [NCBI36]
Chr8:8q21.11		 not provided
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13		 likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_153225.4(SBSPON):c.599C>T (p.Thr200Met) single nucleotide variant not specified [RCV004322975] Chr8:73069883 [GRCh38]
Chr8:73982118 [GRCh37]
Chr8:8q21.11		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_153225.4(SBSPON):c.608T>C (p.Val203Ala) single nucleotide variant not specified [RCV004183424] Chr8:73069874 [GRCh38]
Chr8:73982109 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.176C>T (p.Thr59Ile) single nucleotide variant not specified [RCV004139252] Chr8:73092892 [GRCh38]
Chr8:74005127 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.742C>T (p.Arg248Trp) single nucleotide variant not specified [RCV004078872] Chr8:73067394 [GRCh38]
Chr8:73979629 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.125G>C (p.Arg42Thr) single nucleotide variant not specified [RCV004141510] Chr8:73092943 [GRCh38]
Chr8:74005178 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.770C>T (p.Ala257Val) single nucleotide variant not specified [RCV004187637] Chr8:73067366 [GRCh38]
Chr8:73979601 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.502T>A (p.Tyr168Asn) single nucleotide variant not specified [RCV004128087] Chr8:73069980 [GRCh38]
Chr8:73982215 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.493G>A (p.Asp165Asn) single nucleotide variant not specified [RCV004191736] Chr8:73071787 [GRCh38]
Chr8:73984022 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.91G>A (p.Gly31Ser) single nucleotide variant not specified [RCV004071144] Chr8:73092977 [GRCh38]
Chr8:74005212 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.415G>A (p.Ala139Thr) single nucleotide variant not specified [RCV004072758] Chr8:73071865 [GRCh38]
Chr8:73984100 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.221C>T (p.Pro74Leu) single nucleotide variant not specified [RCV004177421] Chr8:73081207 [GRCh38]
Chr8:73993442 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.346G>A (p.Glu116Lys) single nucleotide variant not specified [RCV004262657] Chr8:73081082 [GRCh38]
Chr8:73993317 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.20C>T (p.Ala7Val) single nucleotide variant not specified [RCV004268308] Chr8:73093048 [GRCh38]
Chr8:74005283 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.100C>T (p.Pro34Ser) single nucleotide variant not specified [RCV004267383] Chr8:73092968 [GRCh38]
Chr8:74005203 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.523G>C (p.Glu175Gln) single nucleotide variant not specified [RCV004325858] Chr8:73069959 [GRCh38]
Chr8:73982194 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.322G>A (p.Gly108Ser) single nucleotide variant not specified [RCV004345656] Chr8:73081106 [GRCh38]
Chr8:73993341 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.289C>T (p.Arg97Trp) single nucleotide variant not specified [RCV004340112] Chr8:73081139 [GRCh38]
Chr8:73993374 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.451A>G (p.Thr151Ala) single nucleotide variant not specified [RCV004362204] Chr8:73071829 [GRCh38]
Chr8:73984064 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.396C>T (p.Cys132=) single nucleotide variant not provided [RCV003423942] Chr8:73081032 [GRCh38]
Chr8:73993267 [GRCh37]
Chr8:8q21.11		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_153225.4(SBSPON):c.296G>A (p.Arg99His) single nucleotide variant not specified [RCV004452486] Chr8:73081132 [GRCh38]
Chr8:73993367 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.715C>T (p.Arg239Trp) single nucleotide variant not specified [RCV004452489] Chr8:73067421 [GRCh38]
Chr8:73979656 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.410T>A (p.Val137Asp) single nucleotide variant not specified [RCV004452487] Chr8:73071870 [GRCh38]
Chr8:73984105 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.560C>G (p.Pro187Arg) single nucleotide variant not specified [RCV004452488] Chr8:73069922 [GRCh38]
Chr8:73982157 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.236A>T (p.Glu79Val) single nucleotide variant not specified [RCV004452484] Chr8:73081192 [GRCh38]
Chr8:73993427 [GRCh37]
Chr8:8q21.11		 uncertain significance
NM_153225.4(SBSPON):c.280A>G (p.Thr94Ala) single nucleotide variant not specified [RCV004452485] Chr8:73081148 [GRCh38]
Chr8:73993383 [GRCh37]
Chr8:8q21.11		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1439
Count of miRNA genes:770
Interacting mature miRNAs:873
Transcripts:ENST00000297354, ENST00000519697
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407176887GWAS825863_HFEV/FVC ratio QTL GWAS825863 (human)3e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)87308742473087425Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
407263740GWAS912716_Htelomere length QTL GWAS912716 (human)9e-13telomere length87306590973065910Human
407183102GWAS832078_Hcorpus callosum volume measurement QTL GWAS832078 (human)6e-12corpus callosum volume measurement87308811673088117Human
407131816GWAS780792_Hasparaginase-induced acute pancreatitis QTL GWAS780792 (human)0.000002asparaginase-induced acute pancreatitis87307186573071866Human

Markers in Region
SHGC-35192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,978,178 - 73,978,309UniSTSGRCh37
Build 36874,140,732 - 74,140,863RGDNCBI36
Celera869,975,357 - 69,975,488RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,469,071 - 69,469,202UniSTS
Stanford-G3 RH Map82917.0UniSTS
GeneMap99-GB4 RH Map8375.77UniSTS
Whitehead-RH Map8462.4UniSTS
NCBI RH Map8844.5UniSTS
GeneMap99-G3 RH Map83007.0UniSTS
RH94170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,979,410 - 73,979,557UniSTSGRCh37
Build 36874,141,964 - 74,142,111RGDNCBI36
Celera869,976,589 - 69,976,736RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,470,303 - 69,470,450UniSTS
GeneMap99-GB4 RH Map8383.4UniSTS
RH102570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,977,525 - 73,977,650UniSTSGRCh37
Build 36874,140,079 - 74,140,204RGDNCBI36
Celera869,974,704 - 69,974,829RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,468,418 - 69,468,543UniSTS
GeneMap99-GB4 RH Map8383.3UniSTS
SHGC-106470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,982,779 - 73,983,116UniSTSGRCh37
Build 36874,145,333 - 74,145,670RGDNCBI36
Celera869,979,958 - 69,980,295RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,473,924 - 69,474,261UniSTS
TNG Radiation Hybrid Map837293.0UniSTS
SHGC-145894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,984,066 - 73,984,392UniSTSGRCh37
Build 36874,146,620 - 74,146,946RGDNCBI36
Celera869,981,245 - 69,981,571RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,475,211 - 69,475,537UniSTS
TNG Radiation Hybrid Map837296.0UniSTS
SHGC-155272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37873,983,852 - 73,984,168UniSTSGRCh37
Build 36874,146,406 - 74,146,722RGDNCBI36
Celera869,981,031 - 69,981,347RGD
Cytogenetic Map8q21.11UniSTS
HuRef869,474,997 - 69,475,313UniSTS
TNG Radiation Hybrid Map837296.0UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2252 4956 1712 2326 6 611 1909 452 2259 7237 6425 41 3724 1 840 1739 1607 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_153225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI698180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297354   ⟹   ENSP00000297354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl873,064,543 - 73,093,172 (-)Ensembl
Ensembl Acc Id: ENST00000519697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl873,066,532 - 73,124,088 (-)Ensembl
RefSeq Acc Id: NM_153225   ⟹   NP_694957
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,064,543 - 73,093,172 (-)NCBI
GRCh37873,976,778 - 74,005,507 (-)RGD
Build 36874,141,808 - 74,168,061 (-)NCBI Archive
Celera869,973,957 - 70,002,409 (-)RGD
HuRef869,467,671 - 69,496,653 (-)RGD
CHM1_1874,029,653 - 74,058,364 (-)NCBI
T2T-CHM13v2.0873,493,598 - 73,522,530 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013145   ⟹   XP_016868634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,064,543 - 73,086,117 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447081   ⟹   XP_024302849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,071,781 - 73,093,172 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421408   ⟹   XP_047277364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,064,543 - 73,086,125 (-)NCBI
RefSeq Acc Id: XM_054359862   ⟹   XP_054215837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0873,493,598 - 73,515,482 (-)NCBI
RefSeq Acc Id: XM_054359863   ⟹   XP_054215838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0873,493,598 - 73,515,474 (-)NCBI
RefSeq Acc Id: XM_054359864   ⟹   XP_054215839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0873,501,144 - 73,522,530 (-)NCBI
RefSeq Acc Id: XR_008487816
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0873,501,144 - 73,522,530 (-)NCBI
RefSeq Acc Id: XR_928762
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38873,071,781 - 73,093,172 (-)NCBI
Sequence:
RefSeq Acc Id: NP_694957   ⟸   NM_153225
- Peptide Label: precursor
- UniProtKB: A8KAA5 (UniProtKB/Swiss-Prot),   Q96J64 (UniProtKB/Swiss-Prot),   Q8IVN8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868634   ⟸   XM_017013145
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024302849   ⟸   XM_024447081
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000297354   ⟸   ENST00000297354
RefSeq Acc Id: XP_047277364   ⟸   XM_047421408
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215837   ⟸   XM_054359862
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215838   ⟸   XM_054359863
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215839   ⟸   XM_054359864
- Peptide Label: isoform X3
Protein Domains
SMB   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IVN8-F1-model_v2 AlphaFold Q8IVN8 1-264 view protein structure

Promoters
RGD ID:7213521
Promoter ID:EPDNEW_H12506
Type:initiation region
Name:SBSPON_1
Description:somatomedin B and thrombospondin type 1 domain containing
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
GRCh38873,093,172 - 73,093,232EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30362 AgrOrtholog
COSMIC SBSPON COSMIC
Ensembl Genes ENSG00000164764 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297354 ENTREZGENE
  ENST00000297354.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000164764 GTEx
HGNC ID HGNC:30362 ENTREZGENE
Human Proteome Map SBSPON Human Proteome Map
InterPro SBSPON UniProtKB/Swiss-Prot
  Somatomedin_B-like_dom_sf UniProtKB/Swiss-Prot
  Somatomedin_B_dom UniProtKB/Swiss-Prot
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
  TSP1_spondin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:157869 UniProtKB/Swiss-Prot
NCBI Gene 157869 ENTREZGENE
OMIM 621005 OMIM
PANTHER PTHR20920 UniProtKB/Swiss-Prot
  SOMATOMEDIN-B AND THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam TSP1_spondin UniProtKB/Swiss-Prot
PharmGKB PA164717487 PharmGKB
PROSITE SMB_1 UniProtKB/Swiss-Prot
  SMB_2 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
SMART TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot
  SSF90188 UniProtKB/Swiss-Prot
UniProt A8KAA5 ENTREZGENE
  Q8IVN8 ENTREZGENE
  Q96J64 ENTREZGENE
  SBSPO_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8KAA5 UniProtKB/Swiss-Prot
  Q96J64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 SBSPON  somatomedin B and thrombospondin type 1 domain containing    somatomedin B and thrombospondin, type 1 domain containing  Symbol and/or name change 5135510 APPROVED
2012-05-22 SBSPON  somatomedin B and thrombospondin, type 1 domain containing  C8orf84  chromosome 8 open reading frame 84  Symbol and/or name change 5135510 APPROVED