SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1) - Rat Genome Database

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Gene: SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1) Homo sapiens
Analyze
Symbol: SVEP1
Name: sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
RGD ID: 1350967
HGNC Page HGNC:15985
Description: Enables integrin binding activity. Involved in negative regulation of vasoconstriction and positive regulation of platelet activation. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf13; CCP module-containing protein 22; CCP22; chromosome 9 open reading frame 13; FLJ16013; FLJ90719; POLYDOM; SEL-OB; selectin-like osteoblast-derived protein; selectin-like protein; SELOB; serologically defined breast cancer antigen NY-BR-38; sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1
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
GRCh389110,365,248 - 110,579,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9110,365,248 - 110,579,880 (-)EnsemblGRCh38hg38GRCh38
GRCh379113,127,528 - 113,342,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369112,167,349 - 112,381,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 349110,284,313 - 110,391,889NCBI
Celera983,629,159 - 83,843,852 (-)NCBICelera
Cytogenetic Map9q31.3NCBI
HuRef982,729,176 - 82,943,867 (-)NCBIHuRef
CHM1_19113,273,970 - 113,488,566 (-)NCBICHM1_1
T2T-CHM13v2.09122,534,766 - 122,749,357 (-)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

Cellular Component
cytoplasm  (IDA,IEA)
extracellular region  (IEA,ISS)
extracellular space  (IBA,IEA)
membrane  (IEA)
nucleus  (IDA,IEA)
plasma membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:10737800   PMID:11062057   PMID:12477932   PMID:14702039   PMID:15231748   PMID:16206243   PMID:18029348   PMID:18711365   PMID:20236627   PMID:20361209   PMID:20379614   PMID:20834067  
PMID:21556780   PMID:21873635   PMID:22424883   PMID:22654117   PMID:23386860   PMID:25188548   PMID:26514267   PMID:26934567   PMID:27529678   PMID:27892606   PMID:28302793   PMID:29507755  
PMID:31570272   PMID:32371982   PMID:33027505   PMID:33185739   PMID:33762433   PMID:34309184   PMID:34506084   PMID:35306983   PMID:35802072   PMID:35900319   PMID:36792666   PMID:37100352  
PMID:37689310   PMID:38409611  


Genomics

Comparative Map Data
SVEP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389110,365,248 - 110,579,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9110,365,248 - 110,579,880 (-)EnsemblGRCh38hg38GRCh38
GRCh379113,127,528 - 113,342,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369112,167,349 - 112,381,981 (-)NCBINCBI36Build 36hg18NCBI36
Build 349110,284,313 - 110,391,889NCBI
Celera983,629,159 - 83,843,852 (-)NCBICelera
Cytogenetic Map9q31.3NCBI
HuRef982,729,176 - 82,943,867 (-)NCBIHuRef
CHM1_19113,273,970 - 113,488,566 (-)NCBICHM1_1
T2T-CHM13v2.09122,534,766 - 122,749,357 (-)NCBIT2T-CHM13v2.0
Svep1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39458,042,796 - 58,206,596 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl458,042,442 - 58,206,859 (-)EnsemblGRCm39 Ensembl
GRCm38458,042,796 - 58,206,596 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl458,042,442 - 58,206,859 (-)EnsemblGRCm38mm10GRCm38
MGSCv37458,055,668 - 58,219,468 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36458,136,850 - 58,300,650 (-)NCBIMGSCv36mm8
Celera457,955,045 - 58,122,396 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map431.87NCBI
Svep1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8577,606,523 - 77,783,292 (-)NCBIGRCr8
mRatBN7.2572,811,200 - 72,988,185 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl572,811,410 - 72,988,525 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0575,147,245 - 75,320,873 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl575,143,867 - 75,319,765 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0579,300,847 - 79,471,213 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4576,025,177 - 76,203,391 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera571,650,775 - 71,826,999 (-)NCBICelera
Cytogenetic Map5q24NCBI
Svep1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541916,589,811 - 16,777,001 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541916,589,811 - 16,773,425 (+)NCBIChiLan1.0ChiLan1.0
SVEP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21128,832,732 - 29,040,215 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1928,837,245 - 29,047,307 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0981,521,495 - 81,727,869 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19109,686,826 - 109,892,291 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9109,686,826 - 109,892,291 (-)Ensemblpanpan1.1panPan2
SVEP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11165,312,723 - 65,494,014 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1165,289,087 - 65,637,974 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1163,715,062 - 63,896,447 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01166,442,286 - 66,624,302 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1166,442,407 - 66,624,302 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11164,961,708 - 65,143,713 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01164,983,267 - 65,165,351 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01165,673,793 - 65,855,474 (-)NCBIUU_Cfam_GSD_1.0
Svep1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947180,539,650 - 180,710,353 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365592,556,207 - 2,726,635 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365592,556,207 - 2,726,670 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SVEP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1251,368,845 - 251,571,415 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11251,367,401 - 251,571,799 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21282,115,121 - 282,317,808 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SVEP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11228,806,583 - 29,183,167 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1228,959,222 - 29,181,871 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603513,582,942 - 13,811,101 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Svep1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624758946,999 - 1,188,933 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624758946,334 - 1,188,976 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SVEP1
179 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
NM_153366.3(SVEP1):c.9586G>A (p.Asp3196Asn) single nucleotide variant Malignant melanoma [RCV000068490] Chr9:110404407 [GRCh38]
Chr9:113166687 [GRCh37]
Chr9:112206508 [NCBI36]
Chr9:9q31.3		 not provided
NM_153366.3(SVEP1):c.8504C>T (p.Ser2835Leu) single nucleotide variant Malignant melanoma [RCV000068491] Chr9:110407096 [GRCh38]
Chr9:113169376 [GRCh37]
Chr9:112209197 [NCBI36]
Chr9:9q31.3		 not provided
NM_153366.3(SVEP1):c.2999-669A>G single nucleotide variant Lung cancer [RCV000108035] Chr9:110469770 [GRCh38]
Chr9:113232050 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.3(SVEP1):c.2765-59C>G single nucleotide variant Lung cancer [RCV000108036] Chr9:110471656 [GRCh38]
Chr9:113233936 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3 copy number gain See cases [RCV000449057] Chr9:111529810..113539990 [GRCh37]
Chr9:9q31.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_153366.4(SVEP1):c.3719G>A (p.Cys1240Tyr) single nucleotide variant Inborn genetic diseases [RCV003246410] Chr9:110455658 [GRCh38]
Chr9:113217938 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.803G>A (p.Ser268Asn) single nucleotide variant Inborn genetic diseases [RCV003268512] Chr9:110546276 [GRCh38]
Chr9:113308556 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
NM_153366.4(SVEP1):c.394T>A (p.Tyr132Asn) single nucleotide variant Inborn genetic diseases [RCV003242493] Chr9:110579150 [GRCh38]
Chr9:113341430 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.1177A>G (p.Thr393Ala) single nucleotide variant Inborn genetic diseases [RCV003286146] Chr9:110513052 [GRCh38]
Chr9:113275332 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.611C>T (p.Pro204Leu) single nucleotide variant Inborn genetic diseases [RCV003285206] Chr9:110550025 [GRCh38]
Chr9:113312305 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3 copy number gain not provided [RCV000683161] Chr9:108664157..115356416 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q31.3(chr9:113103292-113155541)x4 copy number gain not provided [RCV000748607] Chr9:113103292..113155541 [GRCh37]
Chr9:9q31.3		 benign
GRCh37/hg19 9q31.3(chr9:113162199-113179308)x1 copy number loss not provided [RCV000748608] Chr9:113162199..113179308 [GRCh37]
Chr9:9q31.3		 benign
GRCh37/hg19 9q31.3(chr9:113176113-113188572)x1 copy number loss not provided [RCV000748609] Chr9:113176113..113188572 [GRCh37]
Chr9:9q31.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q31.3(chr9:113177596-113552613)x3 copy number gain not provided [RCV001006254] Chr9:113177596..113552613 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_153366.4(SVEP1):c.6319G>C (p.Val2107Leu) single nucleotide variant Inborn genetic diseases [RCV003271230] Chr9:110411392 [GRCh38]
Chr9:113173672 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7200T>G (p.Phe2400Leu) single nucleotide variant Inborn genetic diseases [RCV003273483] Chr9:110408400 [GRCh38]
Chr9:113170680 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.686G>A (p.Arg229Gln) single nucleotide variant Inborn genetic diseases [RCV003290451] Chr9:110549950 [GRCh38]
Chr9:113312230 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9754G>A (p.Val3252Met) single nucleotide variant Inborn genetic diseases [RCV003241516] Chr9:110400922 [GRCh38]
Chr9:113163202 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2375T>C (p.Phe792Ser) single nucleotide variant Inborn genetic diseases [RCV003241312] Chr9:110479747 [GRCh38]
Chr9:113242027 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3055C>T (p.Arg1019Trp) single nucleotide variant Inborn genetic diseases [RCV003253060] Chr9:110469045 [GRCh38]
Chr9:113231325 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9q31.3(chr9:113177821-113552613)x1 copy number loss not provided [RCV001829199] Chr9:113177821..113552613 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NC_000009.11:g.(?_113006437)_(113563268_?)dup duplication Fetal akinesia deformation sequence 1 [RCV003116395] Chr9:113006437..113563268 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2950G>C (p.Ala984Pro) single nucleotide variant Inborn genetic diseases [RCV003196989] Chr9:110471412 [GRCh38]
Chr9:113233692 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9920A>G (p.Asn3307Ser) single nucleotide variant Inborn genetic diseases [RCV003255368] Chr9:110387425 [GRCh38]
Chr9:113149705 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_153366.4(SVEP1):c.1324C>T (p.Arg442Cys) single nucleotide variant Inborn genetic diseases [RCV003279436] Chr9:110503197 [GRCh38]
Chr9:113265477 [GRCh37]
Chr9:9q31.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_153366.4(SVEP1):c.3638G>A (p.Arg1213His) single nucleotide variant Inborn genetic diseases [RCV003298012] Chr9:110457291 [GRCh38]
Chr9:113219571 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1136C>T (p.Pro379Leu) single nucleotide variant Inborn genetic diseases [RCV003279989] Chr9:110513093 [GRCh38]
Chr9:113275373 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3520G>A (p.Val1174Met) single nucleotide variant Inborn genetic diseases [RCV003304671] Chr9:110458527 [GRCh38]
Chr9:113220807 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6720T>G (p.Ser2240Arg) single nucleotide variant Inborn genetic diseases [RCV002902414] Chr9:110408880 [GRCh38]
Chr9:113171160 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6806C>T (p.Pro2269Leu) single nucleotide variant Inborn genetic diseases [RCV003287298] Chr9:110408794 [GRCh38]
Chr9:113171074 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10225G>A (p.Ala3409Thr) single nucleotide variant Inborn genetic diseases [RCV002906804] Chr9:110385910 [GRCh38]
Chr9:113148190 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4859A>G (p.Lys1620Arg) single nucleotide variant Inborn genetic diseases [RCV002771848] Chr9:110435270 [GRCh38]
Chr9:113197550 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5924C>T (p.Thr1975Met) single nucleotide variant Inborn genetic diseases [RCV002991911] Chr9:110427642 [GRCh38]
Chr9:113189922 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1372T>C (p.Tyr458His) single nucleotide variant Inborn genetic diseases [RCV002685152] Chr9:110503149 [GRCh38]
Chr9:113265429 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3349C>T (p.Arg1117Cys) single nucleotide variant Inborn genetic diseases [RCV002841613] Chr9:110459087 [GRCh38]
Chr9:113221367 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1717A>G (p.Ile573Val) single nucleotide variant Inborn genetic diseases [RCV002991020] Chr9:110496898 [GRCh38]
Chr9:113259178 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10449A>C (p.Gln3483His) single nucleotide variant Inborn genetic diseases [RCV002728291] Chr9:110377326 [GRCh38]
Chr9:113139606 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7287C>G (p.Ser2429Arg) single nucleotide variant Inborn genetic diseases [RCV002754715] Chr9:110408313 [GRCh38]
Chr9:113170593 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6878G>A (p.Gly2293Asp) single nucleotide variant Inborn genetic diseases [RCV002906258] Chr9:110408722 [GRCh38]
Chr9:113171002 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10531G>A (p.Gly3511Arg) single nucleotide variant Inborn genetic diseases [RCV002972822] Chr9:110375437 [GRCh38]
Chr9:113137717 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5870C>A (p.Ala1957Asp) single nucleotide variant Inborn genetic diseases [RCV002794551] Chr9:110427696 [GRCh38]
Chr9:113189976 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3056G>A (p.Arg1019Gln) single nucleotide variant Inborn genetic diseases [RCV002946907] Chr9:110469044 [GRCh38]
Chr9:113231324 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7577G>A (p.Arg2526Gln) single nucleotide variant Inborn genetic diseases [RCV002728170] Chr9:110408023 [GRCh38]
Chr9:113170303 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.353C>G (p.Thr118Arg) single nucleotide variant Inborn genetic diseases [RCV002840091] Chr9:110579191 [GRCh38]
Chr9:113341471 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1754A>C (p.Asn585Thr) single nucleotide variant Inborn genetic diseases [RCV002818508] Chr9:110496861 [GRCh38]
Chr9:113259141 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9718T>G (p.Ser3240Ala) single nucleotide variant Inborn genetic diseases [RCV002883706]|not provided [RCV003434622] Chr9:110400958 [GRCh38]
Chr9:113163238 [GRCh37]
Chr9:9q31.3		 likely benign|uncertain significance
NM_153366.4(SVEP1):c.6647A>T (p.Glu2216Val) single nucleotide variant Inborn genetic diseases [RCV002901395] Chr9:110411064 [GRCh38]
Chr9:113173344 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4402C>G (p.Pro1468Ala) single nucleotide variant Inborn genetic diseases [RCV002882357] Chr9:110445898 [GRCh38]
Chr9:113208178 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5761C>T (p.Leu1921Phe) single nucleotide variant Inborn genetic diseases [RCV002794612] Chr9:110429189 [GRCh38]
Chr9:113191469 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7097C>A (p.Ser2366Tyr) single nucleotide variant Inborn genetic diseases [RCV002752810] Chr9:110408503 [GRCh38]
Chr9:113170783 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5355A>C (p.Glu1785Asp) single nucleotide variant Inborn genetic diseases [RCV002841573] Chr9:110430449 [GRCh38]
Chr9:113192729 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10124A>T (p.Tyr3375Phe) single nucleotide variant Inborn genetic diseases [RCV002688647] Chr9:110386011 [GRCh38]
Chr9:113148291 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5239G>A (p.Asp1747Asn) single nucleotide variant Inborn genetic diseases [RCV002821148] Chr9:110432029 [GRCh38]
Chr9:113194309 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7093C>T (p.Pro2365Ser) single nucleotide variant Inborn genetic diseases [RCV002884826] Chr9:110408507 [GRCh38]
Chr9:113170787 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9853A>G (p.Arg3285Gly) single nucleotide variant Inborn genetic diseases [RCV002661139] Chr9:110389557 [GRCh38]
Chr9:113151837 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.3523G>T (p.Val1175Leu) single nucleotide variant Inborn genetic diseases [RCV002660332] Chr9:110458524 [GRCh38]
Chr9:113220804 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6743A>G (p.Asn2248Ser) single nucleotide variant Inborn genetic diseases [RCV002784521] Chr9:110408857 [GRCh38]
Chr9:113171137 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2206G>C (p.Gly736Arg) single nucleotide variant Inborn genetic diseases [RCV002951085] Chr9:110481401 [GRCh38]
Chr9:113243681 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7984G>A (p.Glu2662Lys) single nucleotide variant Inborn genetic diseases [RCV002661138] Chr9:110407616 [GRCh38]
Chr9:113169896 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3047A>T (p.Glu1016Val) single nucleotide variant Inborn genetic diseases [RCV002784241] Chr9:110469053 [GRCh38]
Chr9:113231333 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5900C>G (p.Pro1967Arg) single nucleotide variant Inborn genetic diseases [RCV002783655] Chr9:110427666 [GRCh38]
Chr9:113189946 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9517A>G (p.Arg3173Gly) single nucleotide variant Inborn genetic diseases [RCV002950068] Chr9:110404476 [GRCh38]
Chr9:113166756 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5926G>A (p.Gly1976Arg) single nucleotide variant Inborn genetic diseases [RCV002692565] Chr9:110427640 [GRCh38]
Chr9:113189920 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9836G>A (p.Arg3279His) single nucleotide variant Inborn genetic diseases [RCV002980695] Chr9:110389574 [GRCh38]
Chr9:113151854 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3431C>T (p.Pro1144Leu) single nucleotide variant Inborn genetic diseases [RCV002758867] Chr9:110459005 [GRCh38]
Chr9:113221285 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10378G>A (p.Gly3460Arg) single nucleotide variant Inborn genetic diseases [RCV002660407] Chr9:110379377 [GRCh38]
Chr9:113141657 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1325G>A (p.Arg442His) single nucleotide variant Inborn genetic diseases [RCV002845869] Chr9:110503196 [GRCh38]
Chr9:113265476 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3983G>A (p.Gly1328Glu) single nucleotide variant Inborn genetic diseases [RCV002707003] Chr9:110450179 [GRCh38]
Chr9:113212459 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4864G>A (p.Asp1622Asn) single nucleotide variant Inborn genetic diseases [RCV002956355] Chr9:110435265 [GRCh38]
Chr9:113197545 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5171G>A (p.Gly1724Asp) single nucleotide variant Inborn genetic diseases [RCV002893109] Chr9:110432524 [GRCh38]
Chr9:113194804 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.686G>C (p.Arg229Pro) single nucleotide variant Inborn genetic diseases [RCV002708834] Chr9:110549950 [GRCh38]
Chr9:113312230 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.506C>T (p.Thr169Ile) single nucleotide variant Inborn genetic diseases [RCV002788130] Chr9:110579038 [GRCh38]
Chr9:113341318 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6781C>A (p.Pro2261Thr) single nucleotide variant Inborn genetic diseases [RCV002827012] Chr9:110408819 [GRCh38]
Chr9:113171099 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6536A>G (p.Lys2179Arg) single nucleotide variant Inborn genetic diseases [RCV002955509] Chr9:110411175 [GRCh38]
Chr9:113173455 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7208C>A (p.Thr2403Asn) single nucleotide variant Inborn genetic diseases [RCV002709401] Chr9:110408392 [GRCh38]
Chr9:113170672 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2762C>T (p.Thr921Ile) single nucleotide variant Inborn genetic diseases [RCV003004495] Chr9:110472161 [GRCh38]
Chr9:113234441 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3880A>T (p.Thr1294Ser) single nucleotide variant Inborn genetic diseases [RCV002712937] Chr9:110451310 [GRCh38]
Chr9:113213590 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4802G>A (p.Ser1601Asn) single nucleotide variant Inborn genetic diseases [RCV002763312] Chr9:110435327 [GRCh38]
Chr9:113197607 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6412T>C (p.Ser2138Pro) single nucleotide variant Inborn genetic diseases [RCV002743261] Chr9:110411299 [GRCh38]
Chr9:113173579 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9235A>G (p.Ser3079Gly) single nucleotide variant Inborn genetic diseases [RCV002767065] Chr9:110406365 [GRCh38]
Chr9:113168645 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.397G>A (p.Val133Met) single nucleotide variant Inborn genetic diseases [RCV002744080] Chr9:110579147 [GRCh38]
Chr9:113341427 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6799C>A (p.Pro2267Thr) single nucleotide variant Inborn genetic diseases [RCV002666399] Chr9:110408801 [GRCh38]
Chr9:113171081 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6524G>A (p.Gly2175Glu) single nucleotide variant Inborn genetic diseases [RCV002826445] Chr9:110411187 [GRCh38]
Chr9:113173467 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10181G>T (p.Gly3394Val) single nucleotide variant Inborn genetic diseases [RCV002762952] Chr9:110385954 [GRCh38]
Chr9:113148234 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6698C>T (p.Pro2233Leu) single nucleotide variant Inborn genetic diseases [RCV002930058] Chr9:110408902 [GRCh38]
Chr9:113171182 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3917C>G (p.Thr1306Arg) single nucleotide variant Inborn genetic diseases [RCV002709400] Chr9:110450245 [GRCh38]
Chr9:113212525 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8542G>A (p.Glu2848Lys) single nucleotide variant Inborn genetic diseases [RCV002713874] Chr9:110407058 [GRCh38]
Chr9:113169338 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1130A>T (p.His377Leu) single nucleotide variant Inborn genetic diseases [RCV002673326] Chr9:110513099 [GRCh38]
Chr9:113275379 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8948G>A (p.Gly2983Glu) single nucleotide variant Inborn genetic diseases [RCV002961844] Chr9:110406652 [GRCh38]
Chr9:113168932 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1735G>A (p.Glu579Lys) single nucleotide variant Inborn genetic diseases [RCV002959680] Chr9:110496880 [GRCh38]
Chr9:113259160 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9935T>C (p.Ile3312Thr) single nucleotide variant Inborn genetic diseases [RCV002714502] Chr9:110387410 [GRCh38]
Chr9:113149690 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5371G>C (p.Ala1791Pro) single nucleotide variant Inborn genetic diseases [RCV002897098] Chr9:110430433 [GRCh38]
Chr9:113192713 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8755G>A (p.Glu2919Lys) single nucleotide variant Inborn genetic diseases [RCV002877635] Chr9:110406845 [GRCh38]
Chr9:113169125 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6532A>G (p.Ile2178Val) single nucleotide variant Inborn genetic diseases [RCV002832695] Chr9:110411179 [GRCh38]
Chr9:113173459 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9947C>T (p.Thr3316Met) single nucleotide variant Inborn genetic diseases [RCV002703463] Chr9:110387398 [GRCh38]
Chr9:113149678 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6947C>T (p.Pro2316Leu) single nucleotide variant Inborn genetic diseases [RCV002934987] Chr9:110408653 [GRCh38]
Chr9:113170933 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1813G>A (p.Val605Ile) single nucleotide variant Inborn genetic diseases [RCV002648672] Chr9:110489767 [GRCh38]
Chr9:113252047 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8975A>T (p.Asn2992Ile) single nucleotide variant Inborn genetic diseases [RCV002672500] Chr9:110406625 [GRCh38]
Chr9:113168905 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5305A>T (p.Ile1769Leu) single nucleotide variant Inborn genetic diseases [RCV002655826] Chr9:110431963 [GRCh38]
Chr9:113194243 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4813G>A (p.Val1605Met) single nucleotide variant Inborn genetic diseases [RCV002722356] Chr9:110435316 [GRCh38]
Chr9:113197596 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8705C>T (p.Thr2902Met) single nucleotide variant Inborn genetic diseases [RCV002652421] Chr9:110406895 [GRCh38]
Chr9:113169175 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.4154A>G (p.Asn1385Ser) single nucleotide variant Inborn genetic diseases [RCV002722308] Chr9:110447007 [GRCh38]
Chr9:113209287 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8040G>A (p.Met2680Ile) single nucleotide variant Inborn genetic diseases [RCV002678641] Chr9:110407560 [GRCh38]
Chr9:113169840 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3466T>C (p.Ser1156Pro) single nucleotide variant Inborn genetic diseases [RCV002723323] Chr9:110458970 [GRCh38]
Chr9:113221250 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9185C>T (p.Thr3062Ile) single nucleotide variant Inborn genetic diseases [RCV003299424] Chr9:110406415 [GRCh38]
Chr9:113168695 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9035T>C (p.Ile3012Thr) single nucleotide variant Inborn genetic diseases [RCV003184941] Chr9:110406565 [GRCh38]
Chr9:113168845 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8300C>T (p.Ser2767Phe) single nucleotide variant Inborn genetic diseases [RCV003220800] Chr9:110407300 [GRCh38]
Chr9:113169580 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7610C>T (p.Thr2537Ile) single nucleotide variant Inborn genetic diseases [RCV003205211] Chr9:110407990 [GRCh38]
Chr9:113170270 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1684G>A (p.Val562Met) single nucleotide variant Inborn genetic diseases [RCV003183125] Chr9:110496931 [GRCh38]
Chr9:113259211 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7915G>A (p.Asp2639Asn) single nucleotide variant Inborn genetic diseases [RCV003178923] Chr9:110407685 [GRCh38]
Chr9:113169965 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1754A>G (p.Asn585Ser) single nucleotide variant Inborn genetic diseases [RCV003183442] Chr9:110496861 [GRCh38]
Chr9:113259141 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2768G>A (p.Ser923Asn) single nucleotide variant Inborn genetic diseases [RCV003197034] Chr9:110471594 [GRCh38]
Chr9:113233874 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6448C>G (p.Pro2150Ala) single nucleotide variant Inborn genetic diseases [RCV003183477] Chr9:110411263 [GRCh38]
Chr9:113173543 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.8197A>G (p.Thr2733Ala) single nucleotide variant Inborn genetic diseases [RCV003206139] Chr9:110407403 [GRCh38]
Chr9:113169683 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1916A>G (p.His639Arg) single nucleotide variant Inborn genetic diseases [RCV003181066] Chr9:110489664 [GRCh38]
Chr9:113251944 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6461A>G (p.Asn2154Ser) single nucleotide variant Inborn genetic diseases [RCV003260470] Chr9:110411250 [GRCh38]
Chr9:113173530 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1534C>G (p.His512Asp) single nucleotide variant Inborn genetic diseases [RCV003183117] Chr9:110499188 [GRCh38]
Chr9:113261468 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7949C>T (p.Pro2650Leu) single nucleotide variant Inborn genetic diseases [RCV003213452] Chr9:110407651 [GRCh38]
Chr9:113169931 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5747A>G (p.Tyr1916Cys) single nucleotide variant Inborn genetic diseases [RCV003185665] Chr9:110429203 [GRCh38]
Chr9:113191483 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2102T>C (p.Ile701Thr) single nucleotide variant Inborn genetic diseases [RCV003173919] Chr9:110482429 [GRCh38]
Chr9:113244709 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2270A>G (p.Tyr757Cys) single nucleotide variant Inborn genetic diseases [RCV003212828] Chr9:110481337 [GRCh38]
Chr9:113243617 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6602C>T (p.Pro2201Leu) single nucleotide variant Inborn genetic diseases [RCV003198189] Chr9:110411109 [GRCh38]
Chr9:113173389 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9113T>G (p.Leu3038Arg) single nucleotide variant Inborn genetic diseases [RCV003203201] Chr9:110406487 [GRCh38]
Chr9:113168767 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5140T>A (p.Tyr1714Asn) single nucleotide variant Inborn genetic diseases [RCV003214967] Chr9:110432555 [GRCh38]
Chr9:113194835 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6766C>T (p.Pro2256Ser) single nucleotide variant Inborn genetic diseases [RCV003192295] Chr9:110408834 [GRCh38]
Chr9:113171114 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6359C>T (p.Thr2120Ile) single nucleotide variant Inborn genetic diseases [RCV003266177] Chr9:110411352 [GRCh38]
Chr9:113173632 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10039C>G (p.His3347Asp) single nucleotide variant Inborn genetic diseases [RCV003263371] Chr9:110387306 [GRCh38]
Chr9:113149586 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3773C>T (p.Pro1258Leu) single nucleotide variant not provided [RCV003425751] Chr9:110455604 [GRCh38]
Chr9:113217884 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.741C>A (p.His247Gln) single nucleotide variant Inborn genetic diseases [RCV003357777] Chr9:110549895 [GRCh38]
Chr9:113312175 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10370T>C (p.Leu3457Ser) single nucleotide variant Inborn genetic diseases [RCV003342603] Chr9:110379385 [GRCh38]
Chr9:113141665 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5595T>G (p.Phe1865Leu) single nucleotide variant Inborn genetic diseases [RCV003344630] Chr9:110429940 [GRCh38]
Chr9:113192220 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6205C>A (p.Pro2069Thr) single nucleotide variant Inborn genetic diseases [RCV003343161] Chr9:110411506 [GRCh38]
Chr9:113173786 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7798G>C (p.Gly2600Arg) single nucleotide variant Inborn genetic diseases [RCV003359866] Chr9:110407802 [GRCh38]
Chr9:113170082 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.7982G>T (p.Trp2661Leu) single nucleotide variant Inborn genetic diseases [RCV003346134] Chr9:110407618 [GRCh38]
Chr9:113169898 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.6214G>A (p.Gly2072Ser) single nucleotide variant Inborn genetic diseases [RCV003385738] Chr9:110411497 [GRCh38]
Chr9:113173777 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1847C>T (p.Pro616Leu) single nucleotide variant Inborn genetic diseases [RCV003373243] Chr9:110489733 [GRCh38]
Chr9:113252013 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2722C>T (p.Pro908Ser) single nucleotide variant Inborn genetic diseases [RCV003366550] Chr9:110472201 [GRCh38]
Chr9:113234481 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.1486C>T (p.Arg496Cys) single nucleotide variant Inborn genetic diseases [RCV003353991] Chr9:110499236 [GRCh38]
Chr9:113261516 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9211C>T (p.Pro3071Ser) single nucleotide variant Inborn genetic diseases [RCV003365245] Chr9:110406389 [GRCh38]
Chr9:113168669 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.5473A>G (p.Thr1825Ala) single nucleotide variant Inborn genetic diseases [RCV003374518] Chr9:110430331 [GRCh38]
Chr9:113192611 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.2950G>T (p.Ala984Ser) single nucleotide variant Inborn genetic diseases [RCV003348019] Chr9:110471412 [GRCh38]
Chr9:113233692 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.9409G>T (p.Ala3137Ser) single nucleotide variant Inborn genetic diseases [RCV003381760] Chr9:110406191 [GRCh38]
Chr9:113168471 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.905A>G (p.His302Arg) single nucleotide variant Inborn genetic diseases [RCV003354274] Chr9:110546174 [GRCh38]
Chr9:113308454 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.3569G>T (p.Ser1190Ile) single nucleotide variant Inborn genetic diseases [RCV003371056] Chr9:110458478 [GRCh38]
Chr9:113220758 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4041T>A (p.Asp1347Glu) single nucleotide variant Inborn genetic diseases [RCV003363976] Chr9:110450121 [GRCh38]
Chr9:113212401 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.10538G>A (p.Arg3513His) single nucleotide variant Inborn genetic diseases [RCV003378158] Chr9:110375430 [GRCh38]
Chr9:113137710 [GRCh37]
Chr9:9q31.3		 uncertain significance
NM_153366.4(SVEP1):c.4876A>G (p.Ile1626Val) single nucleotide variant not provided [RCV003457564] Chr9:110435253 [GRCh38]
Chr9:113197533 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.2805A>G (p.Glu935=) single nucleotide variant not provided [RCV003425752] Chr9:110471557 [GRCh38]
Chr9:113233837 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.10521C>T (p.Pro3507=) single nucleotide variant not provided [RCV003425746] Chr9:110375447 [GRCh38]
Chr9:113137727 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.7332G>A (p.Glu2444=) single nucleotide variant not provided [RCV003425748] Chr9:110408268 [GRCh38]
Chr9:113170548 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.6444G>A (p.Glu2148=) single nucleotide variant not provided [RCV003425749] Chr9:110411267 [GRCh38]
Chr9:113173547 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.7591G>A (p.Glu2531Lys) single nucleotide variant not provided [RCV003425747] Chr9:110408009 [GRCh38]
Chr9:113170289 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.198G>A (p.Gln66=) single nucleotide variant not provided [RCV003425756] Chr9:110579346 [GRCh38]
Chr9:113341626 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.12C>T (p.Arg4=) single nucleotide variant not provided [RCV003425757] Chr9:110579532 [GRCh38]
Chr9:113341812 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.5586A>C (p.Ala1862=) single nucleotide variant not provided [RCV003430199] Chr9:110429949 [GRCh38]
Chr9:113192229 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.10092C>T (p.Pro3364=) single nucleotide variant not provided [RCV003430197] Chr9:110386043 [GRCh38]
Chr9:113148323 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.6960T>G (p.Pro2320=) single nucleotide variant not provided [RCV003430198] Chr9:110408640 [GRCh38]
Chr9:113170920 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV003430200] Chr9:110579415 [GRCh38]
Chr9:113341695 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.2322C>T (p.Gly774=) single nucleotide variant not provided [RCV003425753] Chr9:110481285 [GRCh38]
Chr9:113243565 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.1484-4G>A single nucleotide variant not provided [RCV003425754] Chr9:110499242 [GRCh38]
Chr9:113261522 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.483C>G (p.Ser161=) single nucleotide variant not provided [RCV003425755] Chr9:110579061 [GRCh38]
Chr9:113341341 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.4904G>A (p.Gly1635Glu) single nucleotide variant not provided [RCV003425750] Chr9:110434491 [GRCh38]
Chr9:113196771 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.7180C>T (p.Pro2394Ser) single nucleotide variant not provided [RCV003885814] Chr9:110408420 [GRCh38]
Chr9:113170700 [GRCh37]
Chr9:9q31.3		 likely benign
NM_153366.4(SVEP1):c.2747T>C (p.Leu916Ser) single nucleotide variant Inborn genetic diseases [RCV003342813] Chr9:110472176 [GRCh38]
Chr9:113234456 [GRCh37]
Chr9:9q31.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2177
Count of miRNA genes:738
Interacting mature miRNAs:840
Transcripts:ENST00000297826, ENST00000302728, ENST00000374461, ENST00000374469, ENST00000401783, ENST00000467821, ENST00000476205
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S1828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,332,715 - 113,332,889UniSTSGRCh37
Build 369112,372,536 - 112,372,710RGDNCBI36
Celera983,834,408 - 83,834,582RGD
Cytogenetic Map9q32UniSTS
HuRef982,934,423 - 82,934,597UniSTS
Marshfield Genetic Map9120.04UniSTS
Marshfield Genetic Map9120.04RGD
Genethon Genetic Map9120.4UniSTS
deCODE Assembly Map9114.58UniSTS
RH47642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,262,700 - 113,262,858UniSTSGRCh37
Build 369112,302,521 - 112,302,679RGDNCBI36
Celera983,764,417 - 83,764,575RGD
Cytogenetic Map9q32UniSTS
HuRef982,864,456 - 82,864,614UniSTS
GeneMap99-GB4 RH Map9350.8UniSTS
G10589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,312,731 - 113,312,850UniSTSGRCh37
Build 369112,352,552 - 112,352,671RGDNCBI36
Celera983,814,425 - 83,814,544RGD
Cytogenetic Map9q32UniSTS
HuRef982,914,444 - 82,914,559UniSTS
RH70073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,192,504 - 113,192,670UniSTSGRCh37
Build 369112,232,325 - 112,232,491RGDNCBI36
Celera983,694,212 - 83,694,378RGD
Cytogenetic Map9q32UniSTS
RH91731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,128,561 - 113,128,728UniSTSGRCh37
Build 369112,168,382 - 112,168,549RGDNCBI36
Celera983,630,192 - 83,630,359RGD
Cytogenetic Map9q32UniSTS
HuRef982,730,209 - 82,730,376UniSTS
GeneMap99-GB4 RH Map9339.88UniSTS
D9S747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,312,713 - 113,312,905UniSTSGRCh37
Build 369112,352,534 - 112,352,726RGDNCBI36
Celera983,814,407 - 83,814,599RGD
Cytogenetic Map9q32UniSTS
HuRef982,914,426 - 82,914,614UniSTS
SHGC-132375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,128,561 - 113,128,727UniSTSGRCh37
Build 369112,168,382 - 112,168,548RGDNCBI36
Celera983,630,192 - 83,630,358RGD
Cytogenetic Map9q32UniSTS
HuRef982,730,209 - 82,730,375UniSTS
SHGC-24282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,128,563 - 113,128,712UniSTSGRCh37
Build 369112,168,384 - 112,168,533RGDNCBI36
Celera983,630,194 - 83,630,343RGD
Cytogenetic Map9q32UniSTS
HuRef982,730,211 - 82,730,360UniSTS
GeneMap99-G3 RH Map93606.0UniSTS
SHGC-142066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,272,636 - 113,272,983UniSTSGRCh37
Build 369112,312,457 - 112,312,804RGDNCBI36
Celera983,774,343 - 83,774,690RGD
Cytogenetic Map9q32UniSTS
HuRef982,874,382 - 82,874,729UniSTS
TNG Radiation Hybrid Map940378.0UniSTS
PMC310921P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,312,719 - 113,312,905UniSTSGRCh37
Build 369112,352,540 - 112,352,726RGDNCBI36
Celera983,814,413 - 83,814,599RGD
Cytogenetic Map9q32UniSTS
HuRef982,914,432 - 82,914,614UniSTS
STS-R82656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,273,873 - 113,274,069UniSTSGRCh37
Build 369112,313,694 - 112,313,890RGDNCBI36
Celera983,775,554 - 83,775,750RGD
Cytogenetic Map9q32UniSTS
GeneMap99-GB4 RH Map9350.8UniSTS
D9S2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,128,562 - 113,128,768UniSTSGRCh37
Build 369112,168,383 - 112,168,589RGDNCBI36
Celera983,630,193 - 83,630,399RGD
Cytogenetic Map9q32UniSTS
HuRef982,730,210 - 82,730,416UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH12799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379113,127,638 - 113,127,763UniSTSGRCh37
Build 369112,167,459 - 112,167,584RGDNCBI36
Celera983,629,269 - 83,629,394RGD
Cytogenetic Map9q32UniSTS
HuRef982,729,286 - 82,729,411UniSTS
GeneMap99-GB4 RH Map9347.26UniSTS
NCBI RH Map9975.6UniSTS


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 1407 1033 456 29 168 8 2460 802 846 65 351 1027 22 1200 1583 3
Low 938 1190 1095 486 405 348 1761 1337 1952 269 986 435 149 1 4 1198 1
Below cutoff 39 736 153 94 997 95 111 52 910 59 90 110 2 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_153366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ619977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY243503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY916667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF368046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU077276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX106110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX165144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR008048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374461   ⟹   ENSP00000363585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9110,475,883 - 110,579,880 (-)Ensembl
RefSeq Acc Id: ENST00000374469   ⟹   ENSP00000363593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9110,365,248 - 110,579,741 (-)Ensembl
RefSeq Acc Id: ENST00000401783   ⟹   ENSP00000384917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9110,365,251 - 110,579,880 (-)Ensembl
RefSeq Acc Id: ENST00000467821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9110,442,479 - 110,550,054 (-)Ensembl
RefSeq Acc Id: ENST00000476205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9110,376,811 - 110,379,378 (-)Ensembl
RefSeq Acc Id: NM_153366   ⟹   NP_699197
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389110,365,248 - 110,579,741 (-)NCBI
GRCh379113,127,528 - 113,342,160 (-)RGD
Build 369112,167,349 - 112,381,981 (-)NCBI Archive
Celera983,629,159 - 83,843,852 (-)RGD
HuRef982,729,176 - 82,943,867 (-)ENTREZGENE
CHM1_19113,273,970 - 113,488,566 (-)NCBI
T2T-CHM13v2.09122,534,766 - 122,749,357 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_699197   ⟸   NM_153366
- Peptide Label: precursor
- UniProtKB: Q9H284 (UniProtKB/Swiss-Prot),   Q96JU7 (UniProtKB/Swiss-Prot),   Q8NBT9 (UniProtKB/Swiss-Prot),   Q7Z3G3 (UniProtKB/Swiss-Prot),   Q7Z387 (UniProtKB/Swiss-Prot),   Q5VTE5 (UniProtKB/Swiss-Prot),   Q5VTE4 (UniProtKB/Swiss-Prot),   Q5T938 (UniProtKB/Swiss-Prot),   Q5D213 (UniProtKB/Swiss-Prot),   Q0P675 (UniProtKB/Swiss-Prot),   Q9H8J9 (UniProtKB/Swiss-Prot),   Q4LDE5 (UniProtKB/Swiss-Prot),   Q5JB40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000363585   ⟸   ENST00000374461
RefSeq Acc Id: ENSP00000363593   ⟸   ENST00000374469
RefSeq Acc Id: ENSP00000384917   ⟸   ENST00000401783
Protein Domains
EGF-like   HYR   Pentraxin (PTX)   Sushi   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4LDE5-F1-model_v2 AlphaFold Q4LDE5 1-1400 view protein structure
AF-Q4LDE5-F2-model_v2 AlphaFold Q4LDE5 201-1600 view protein structure
AF-Q4LDE5-F3-model_v2 AlphaFold Q4LDE5 401-1800 view protein structure
AF-Q4LDE5-F4-model_v2 AlphaFold Q4LDE5 601-2000 view protein structure
AF-Q4LDE5-F5-model_v2 AlphaFold Q4LDE5 801-2200 view protein structure
AF-Q4LDE5-F6-model_v2 AlphaFold Q4LDE5 1001-2400 view protein structure
AF-Q4LDE5-F7-model_v2 AlphaFold Q4LDE5 1201-2600 view protein structure
AF-Q4LDE5-F8-model_v2 AlphaFold Q4LDE5 1401-2800 view protein structure
AF-Q4LDE5-F9-model_v2 AlphaFold Q4LDE5 1601-3000 view protein structure
AF-Q4LDE5-F10-model_v2 AlphaFold Q4LDE5 1801-3200 view protein structure
AF-Q4LDE5-F11-model_v2 AlphaFold Q4LDE5 2001-3400 view protein structure
AF-Q4LDE5-F12-model_v2 AlphaFold Q4LDE5 2201-3571 view protein structure

Promoters
RGD ID:7215831
Promoter ID:EPDNEW_H13661
Type:initiation region
Name:SVEP1_2
Description:sushi, von Willebrand factor type A, EGF and pentraxin domaincontaining 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13662  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389110,579,730 - 110,579,790EPDNEW
RGD ID:7215847
Promoter ID:EPDNEW_H13662
Type:initiation region
Name:SVEP1_1
Description:sushi, von Willebrand factor type A, EGF and pentraxin domaincontaining 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13661  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389110,579,919 - 110,579,979EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15985 AgrOrtholog
COSMIC SVEP1 COSMIC
Ensembl Genes ENSG00000165124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374461.1 UniProtKB/Swiss-Prot
  ENST00000374469 ENTREZGENE
  ENST00000374469.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165124 GTEx
HGNC ID HGNC:15985 ENTREZGENE
Human Proteome Map SVEP1 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_extracell UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pentraxin-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr-kin_ephrin_A/B_rcpt-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79987 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79987 ENTREZGENE
OMIM 611691 OMIM
PANTHER BETA-2-GLYCOPROTEIN 1 UniProtKB/TrEMBL
  COMPLEMENT COMPONENT-RELATED SUSHI DOMAIN-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rec_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pentaxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25971 PharmGKB
PRINTS PENTAXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rec_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KQM1_HUMAN UniProtKB/TrEMBL
  L8EBF2_HUMAN UniProtKB/TrEMBL
  Q0P675 ENTREZGENE
  Q4LDE5 ENTREZGENE
  Q5D213 ENTREZGENE
  Q5JB40 ENTREZGENE, UniProtKB/TrEMBL
  Q5T938 ENTREZGENE
  Q5VTE4 ENTREZGENE
  Q5VTE5 ENTREZGENE
  Q7Z387 ENTREZGENE
  Q7Z3G3 ENTREZGENE
  Q8NBT9 ENTREZGENE
  Q96JU7 ENTREZGENE
  Q9H284 ENTREZGENE
  Q9H8J9 ENTREZGENE
  SVEP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q0P675 UniProtKB/Swiss-Prot
  Q5D213 UniProtKB/Swiss-Prot
  Q5T938 UniProtKB/Swiss-Prot
  Q5VTE4 UniProtKB/Swiss-Prot
  Q5VTE5 UniProtKB/Swiss-Prot
  Q7Z387 UniProtKB/Swiss-Prot
  Q7Z3G3 UniProtKB/Swiss-Prot
  Q8NBT9 UniProtKB/Swiss-Prot
  Q96JU7 UniProtKB/Swiss-Prot
  Q9H284 UniProtKB/Swiss-Prot
  Q9H8J9 UniProtKB/Swiss-Prot