RSPO4 (R-spondin 4) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: RSPO4 (R-spondin 4) Homo sapiens
Analyze
Symbol: RSPO4
Name: R-spondin 4
RGD ID: 1344766
HGNC Page HGNC:16175
Description: Predicted to enable heparin binding activity. Involved in positive regulation of Wnt signaling pathway. Acts upstream of or within nail development. Predicted to be located in extracellular region. Implicated in nonsyndromic congenital nail disorder 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf182; chromosome 20 open reading frame 182; CRISTIN4; dJ824F16.3; FLJ16018; hRspo4; R-spondin family, member 4; R-spondin-4; roof plate-specific spondin-4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820958,452 - 1,002,311 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20958,452 - 1,002,311 (-)EnsemblGRCh38hg38GRCh38
GRCh3720939,095 - 982,954 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620887,095 - 930,904 (-)NCBINCBI36Build 36hg18NCBI36
Celera201,035,254 - 1,079,064 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20891,402 - 934,970 (-)NCBIHuRef
CHM1_120939,132 - 982,942 (-)NCBICHM1_1
T2T-CHM13v2.0201,005,419 - 1,049,278 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
extracellular region  (IEA,NAS,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The complex world of WNT receptor signalling. Niehrs C Nat Rev Mol Cell Biol. 2012 Dec;13(12):767-79. doi: 10.1038/nrm3470. Epub 2012 Nov 15.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:11780052   PMID:14702039   PMID:15144186   PMID:16357527   PMID:17041604   PMID:17186469   PMID:17596144   PMID:17805348   PMID:17914448   PMID:18070203   PMID:18779895  
PMID:21873635   PMID:22300369   PMID:23234511   PMID:24050775   PMID:24431302   PMID:25504990   PMID:29752411   PMID:29769720   PMID:32296183   PMID:34099859   PMID:36507580  


Genomics

Comparative Map Data
RSPO4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820958,452 - 1,002,311 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20958,452 - 1,002,311 (-)EnsemblGRCh38hg38GRCh38
GRCh3720939,095 - 982,954 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620887,095 - 930,904 (-)NCBINCBI36Build 36hg18NCBI36
Celera201,035,254 - 1,079,064 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20891,402 - 934,970 (-)NCBIHuRef
CHM1_120939,132 - 982,942 (-)NCBICHM1_1
T2T-CHM13v2.0201,005,419 - 1,049,278 (-)NCBIT2T-CHM13v2.0
Rspo4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392151,684,571 - 151,716,588 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2151,684,847 - 151,716,588 (+)EnsemblGRCm39 Ensembl
GRCm382151,842,647 - 151,874,668 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2151,842,927 - 151,874,668 (+)EnsemblGRCm38mm10GRCm38
MGSCv372151,668,663 - 151,700,404 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362151,534,368 - 151,564,918 (+)NCBIMGSCv36mm8
Celera2157,660,543 - 157,692,549 (+)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.83NCBI
Rspo4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83160,817,611 - 160,852,071 (+)NCBIGRCr8
mRatBN7.23140,357,256 - 140,391,780 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,357,424 - 140,388,254 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.03147,358,690 - 147,391,719 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,358,858 - 147,389,698 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03153,710,530 - 153,741,899 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,185,028 - 142,216,015 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic Map3q41NCBI
Rspo4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955596265,466 - 295,116 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955596265,282 - 295,283 (-)NCBIChiLan1.0ChiLan1.0
RSPO4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2212,008,213 - 2,052,264 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1202,005,023 - 2,048,409 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0201,127,592 - 1,171,860 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.120897,774 - 907,772 (-)NCBIpanpan1.1PanPan1.1panPan2
RSPO4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12419,952,113 - 19,987,498 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2419,952,043 - 19,989,013 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2419,606,495 - 19,641,585 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02420,644,999 - 20,680,271 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2420,644,807 - 20,680,344 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12419,920,786 - 19,955,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02420,025,901 - 20,061,242 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02420,456,869 - 20,492,141 (+)NCBIUU_Cfam_GSD_1.0
Rspo4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640169,186,662 - 169,220,983 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648517,618,034 - 17,650,852 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648517,618,044 - 17,650,852 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RSPO4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,268,612 - 34,309,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,268,702 - 34,310,073 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21738,815,967 - 38,857,282 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RSPO4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,535,042 - 55,576,807 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl255,568,980 - 55,576,685 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660871,955,133 - 1,995,968 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rspo4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247412,252,489 - 2,255,603 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RSPO4
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter) single nucleotide variant Anonychia [RCV000023830] Chr20:967282 [GRCh38]
Chr20:947925 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.190C>T (p.Arg64Cys) single nucleotide variant Anonychia [RCV000023831] Chr20:968028 [GRCh38]
Chr20:948671 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg) single nucleotide variant Anonychia [RCV000023832] Chr20:968019 [GRCh38]
Chr20:948662 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg) single nucleotide variant Anonychia [RCV000001249] Chr20:968024 [GRCh38]
Chr20:948667 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg) single nucleotide variant Anonychia [RCV000001250] Chr20:967264 [GRCh38]
Chr20:947907 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr) single nucleotide variant Anonychia [RCV000001251] Chr20:967230 [GRCh38]
Chr20:947873 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr) single nucleotide variant Anonychia [RCV000001252] Chr20:968000 [GRCh38]
Chr20:948643 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.98dup (p.Asn34fs) duplication Anonychia [RCV000001253] Chr20:968119..968120 [GRCh38]
Chr20:948762..948763 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1360110)x1 copy number loss See cases [RCV000050841] Chr20:89939..1360110 [GRCh38]
Chr20:70580..1340754 [GRCh37]
Chr20:18580..1288754 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3 copy number gain See cases [RCV000050986] Chr20:89939..1028206 [GRCh38]
Chr20:70580..1008849 [GRCh37]
Chr20:18580..956849 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:828964-1241192)x3 copy number gain See cases [RCV000052732] Chr20:828964..1241192 [GRCh38]
Chr20:809607..1221836 [GRCh37]
Chr20:757607..1169836 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:89939-975656)x1 copy number loss See cases [RCV000052733] Chr20:89939..975656 [GRCh38]
Chr20:70580..956299 [GRCh37]
Chr20:18580..904299 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3 copy number gain See cases [RCV000135794] Chr20:89939..1246891 [GRCh38]
Chr20:70580..1227535 [GRCh37]
Chr20:18580..1175535 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1 copy number loss See cases [RCV000139403] Chr20:80093..1246766 [GRCh38]
Chr20:60734..1227410 [GRCh37]
Chr20:8734..1175410 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1 copy number loss See cases [RCV000142919] Chr20:80106..1246891 [GRCh38]
Chr20:60747..1227535 [GRCh37]
Chr20:8747..1175535 [NCBI36]
Chr20:20p13		 likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13(chr20:381794-1268103)x3 copy number gain See cases [RCV000510434] Chr20:381794..1268103 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001029871.4(RSPO4):c.436G>A (p.Gly146Ser) single nucleotide variant Inborn genetic diseases [RCV003249508] Chr20:964094 [GRCh38]
Chr20:944737 [GRCh37]
Chr20:20p13		 likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
NM_001029871.4(RSPO4):c.79+1G>A single nucleotide variant Anonychia [RCV003444150]|Inborn genetic diseases [RCV000622661]|not provided [RCV003222063] Chr20:1002085 [GRCh38]
Chr20:982728 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:870556-1152237)x3 copy number gain not provided [RCV000741065] Chr20:870556..1152237 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV000966080] Chr20:967266 [GRCh38]
Chr20:947909 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:61568-1305971)x1 copy number loss not provided [RCV001007067] Chr20:61568..1305971 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:728577-1237670)x4 copy number gain not provided [RCV000849650] Chr20:728577..1237670 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:67778-974841) copy number loss Global developmental delay [RCV001352667] Chr20:67778..974841 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.432G>T (p.Trp144Cys) single nucleotide variant Inborn genetic diseases [RCV002901224] Chr20:964098 [GRCh38]
Chr20:944741 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.51G>T (p.Met17Ile) single nucleotide variant Inborn genetic diseases [RCV002794432] Chr20:1002114 [GRCh38]
Chr20:982757 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.526G>A (p.Glu176Lys) single nucleotide variant Inborn genetic diseases [RCV002882738] Chr20:964004 [GRCh38]
Chr20:944647 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.40G>T (p.Ala14Ser) single nucleotide variant Inborn genetic diseases [RCV002997100] Chr20:1002125 [GRCh38]
Chr20:982768 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.455A>C (p.His152Pro) single nucleotide variant Inborn genetic diseases [RCV002977731]|RSPO4-related condition [RCV003936668] Chr20:964075 [GRCh38]
Chr20:944718 [GRCh37]
Chr20:20p13		 likely benign|uncertain significance
NM_001029871.4(RSPO4):c.136G>A (p.Gly46Ser) single nucleotide variant Inborn genetic diseases [RCV002784364] Chr20:968082 [GRCh38]
Chr20:948725 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.134A>G (p.Asn45Ser) single nucleotide variant Inborn genetic diseases [RCV002704047] Chr20:968084 [GRCh38]
Chr20:948727 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.424G>A (p.Gly142Ser) single nucleotide variant Inborn genetic diseases [RCV002744023] Chr20:964106 [GRCh38]
Chr20:944749 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.620G>A (p.Gly207Asp) single nucleotide variant Inborn genetic diseases [RCV002651976] Chr20:960442 [GRCh38]
Chr20:941085 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.145_166dup (p.Leu56fs) duplication not provided [RCV003091105] Chr20:968051..968052 [GRCh38]
Chr20:948694..948695 [GRCh37]
Chr20:20p13		 pathogenic
NM_001029871.4(RSPO4):c.338T>C (p.Leu113Ser) single nucleotide variant Inborn genetic diseases [RCV002960806] Chr20:967245 [GRCh38]
Chr20:947888 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.397C>T (p.Arg133Trp) single nucleotide variant Inborn genetic diseases [RCV002679668] Chr20:967186 [GRCh38]
Chr20:947829 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.320G>A (p.Cys107Tyr) single nucleotide variant not provided [RCV003225573] Chr20:967263 [GRCh38]
Chr20:947906 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.634C>T (p.Arg212Cys) single nucleotide variant Inborn genetic diseases [RCV003259772] Chr20:960428 [GRCh38]
Chr20:941071 [GRCh37]
Chr20:20p13		 uncertain significance
NM_001029871.4(RSPO4):c.570T>G (p.Cys190Trp) single nucleotide variant Inborn genetic diseases [RCV003197746] Chr20:963960 [GRCh38]
Chr20:944603 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_001029871.4(RSPO4):c.326G>C (p.Arg109Thr) single nucleotide variant Inborn genetic diseases [RCV003368790] Chr20:967257 [GRCh38]
Chr20:947900 [GRCh37]
Chr20:20p13		 uncertain significance
Single allele deletion not provided [RCV003448677] Chr20:61001..2316914 [GRCh37]
Chr20:20p13		 pathogenic
Single allele deletion not provided [RCV003448689] Chr20:61001..1041262 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:438458-1083208)x3 copy number gain not provided [RCV003485208] Chr20:438458..1083208 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61569-1794919)x3 copy number gain not provided [RCV003485206] Chr20:61569..1794919 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_001029871.4(RSPO4):c.571C>T (p.Pro191Ser) single nucleotide variant RSPO4-related condition [RCV003924097] Chr20:963959 [GRCh38]
Chr20:944602 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_001029871.4(RSPO4):c.681G>A (p.Pro227=) single nucleotide variant RSPO4-related condition [RCV003979114] Chr20:960381 [GRCh38]
Chr20:941024 [GRCh37]
Chr20:20p13		 likely benign
NM_001029871.4(RSPO4):c.360C>T (p.Pro120=) single nucleotide variant RSPO4-related condition [RCV003964224] Chr20:967223 [GRCh38]
Chr20:947866 [GRCh37]
Chr20:20p13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1521
Count of miRNA genes:703
Interacting mature miRNAs:789
Transcripts:ENST00000217260, ENST00000400634
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.

Markers in Region
RH92167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720939,159 - 939,278UniSTSGRCh37
Build 3620887,159 - 887,278RGDNCBI36
Celera201,035,318 - 1,035,437RGD
Cytogenetic Map20p13UniSTS
HuRef20891,466 - 891,585UniSTS
GeneMap99-GB4 RH Map2011.04UniSTS
SHGC-105814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720945,982 - 946,081UniSTSGRCh37
Build 3620893,982 - 894,081RGDNCBI36
Celera201,042,139 - 1,042,238RGD
Cytogenetic Map20p13UniSTS
HuRef20898,242 - 898,341UniSTS
TNG Radiation Hybrid Map20648.0UniSTS
WI-16682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720972,971 - 973,070UniSTSGRCh37
Build 3620920,971 - 921,070RGDNCBI36
Celera201,069,128 - 1,069,227RGD
Cytogenetic Map20p13UniSTS
HuRef20925,035 - 925,134UniSTS
GeneMap99-GB4 RH Map2011.04UniSTS
Whitehead-RH Map2017.9UniSTS
NCBI RH Map2010.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 43 13 131 5 7 5 204 45 214 10 122 620 1 1 20
Low 1274 889 970 157 237 69 2522 842 3148 134 858 792 95 1 408 1600 3
Below cutoff 1005 1840 524 376 1136 306 1439 1094 327 194 409 98 77 773 1032 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000217260   ⟹   ENSP00000217260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20958,452 - 1,002,311 (-)Ensembl
RefSeq Acc Id: ENST00000400634   ⟹   ENSP00000383475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20960,254 - 1,002,264 (-)Ensembl
RefSeq Acc Id: NM_001029871   ⟹   NP_001025042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820958,452 - 1,002,311 (-)NCBI
GRCh3720939,095 - 982,907 (-)ENTREZGENE
Build 3620887,095 - 930,904 (-)NCBI Archive
HuRef20891,402 - 934,970 (-)ENTREZGENE
CHM1_120939,132 - 982,942 (-)NCBI
T2T-CHM13v2.0201,005,419 - 1,049,278 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040007   ⟹   NP_001035096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820958,452 - 1,002,311 (-)NCBI
GRCh3720939,095 - 982,907 (-)ENTREZGENE
Build 3620887,095 - 930,904 (-)NCBI Archive
HuRef20891,402 - 934,970 (-)ENTREZGENE
CHM1_120939,132 - 982,942 (-)NCBI
T2T-CHM13v2.0201,005,419 - 1,049,278 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027839   ⟹   XP_016883328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820961,991 - 1,002,311 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054323406   ⟹   XP_054179381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0201,008,958 - 1,049,278 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001035096   ⟸   NM_001040007
- Peptide Label: isoform 2 precursor
- UniProtKB: Q2I0M5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001025042   ⟸   NM_001029871
- Peptide Label: isoform 1 precursor
- UniProtKB: A2A2I6 (UniProtKB/Swiss-Prot),   Q9UGB2 (UniProtKB/Swiss-Prot),   Q2I0M5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883328   ⟸   XM_017027839
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000217260   ⟸   ENST00000217260
RefSeq Acc Id: ENSP00000383475   ⟸   ENST00000400634
RefSeq Acc Id: XP_054179381   ⟸   XM_054323406
- Peptide Label: isoform X1
Protein Domains
TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2I0M5-F1-model_v2 AlphaFold Q2I0M5 1-234 view protein structure

Promoters
RGD ID:13206095
Promoter ID:EPDNEW_H26628
Type:initiation region
Name:RSPO4_1
Description:R-spondin 4
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
GRCh38201,002,311 - 1,002,371EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16175 AgrOrtholog
COSMIC RSPO4 COSMIC
Ensembl Genes ENSG00000101282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217260 ENTREZGENE
  ENST00000217260.9 UniProtKB/Swiss-Prot
  ENST00000400634 ENTREZGENE
  ENST00000400634.2 UniProtKB/Swiss-Prot
GTEx ENSG00000101282 GTEx
HGNC ID HGNC:16175 ENTREZGENE
Human Proteome Map RSPO4 Human Proteome Map
InterPro Furin_repeat UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Rspo_Fu-CRD_dom UniProtKB/Swiss-Prot
  TSP1_rpt UniProtKB/Swiss-Prot
KEGG Report hsa:343637 UniProtKB/Swiss-Prot
NCBI Gene 343637 ENTREZGENE
OMIM 610573 OMIM
PANTHER NEUROHYPOPHYSIAL HORMONES, N-TERMINAL DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot
  R-SPONDIN-4 UniProtKB/Swiss-Prot
Pfam Furin-like_2 UniProtKB/Swiss-Prot
PharmGKB PA25726 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot
SMART SM00261 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot
UniProt A2A2I6 ENTREZGENE
  Q2I0M5 ENTREZGENE
  Q9UGB2 ENTREZGENE
  RSPO4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A2I6 UniProtKB/Swiss-Prot
  Q9UGB2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 RSPO4  R-spondin 4  RSPO4  R-spondin family, member 4  Symbol and/or name change 5135510 APPROVED