SVOPL (SVOP like) - Rat Genome Database

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Gene: SVOPL (SVOP like) Homo sapiens
Analyze
Symbol: SVOPL
Name: SVOP like
RGD ID: 1603906
HGNC Page HGNC:27034
Description: Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC46715; putative transporter SVOPL; SLC22B5; solute carrier family 22 member B5; SV2 related protein homolog-like; SV2-related protein-like; SVOP-like; SVOP-like protein
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
GRCh387138,594,285 - 138,701,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7138,594,285 - 138,701,362 (-)EnsemblGRCh38hg38GRCh38
GRCh377138,279,030 - 138,386,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367137,929,570 - 137,999,509 (-)NCBINCBI36Build 36hg18NCBI36
Celera7133,017,684 - 133,101,567 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7132,588,049 - 132,674,714 (-)NCBIHuRef
CHM1_17138,212,314 - 138,296,540 (-)NCBICHM1_1
T2T-CHM13v2.07139,903,966 - 140,013,811 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27137,624,061 - 137,707,981 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
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:12477932   PMID:17714910   PMID:21565611   PMID:27593939   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
SVOPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387138,594,285 - 138,701,362 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7138,594,285 - 138,701,362 (-)EnsemblGRCh38hg38GRCh38
GRCh377138,279,030 - 138,386,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367137,929,570 - 137,999,509 (-)NCBINCBI36Build 36hg18NCBI36
Celera7133,017,684 - 133,101,567 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7132,588,049 - 132,674,714 (-)NCBIHuRef
CHM1_17138,212,314 - 138,296,540 (-)NCBICHM1_1
T2T-CHM13v2.07139,903,966 - 140,013,811 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27137,624,061 - 137,707,981 (-)NCBI
Svopl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39637,960,674 - 38,023,944 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl637,960,674 - 38,023,931 (-)EnsemblGRCm39 Ensembl
GRCm38637,983,739 - 38,047,009 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl637,983,739 - 38,046,996 (-)EnsemblGRCm38mm10GRCm38
MGSCv37637,933,739 - 37,996,996 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36637,944,881 - 37,976,604 (-)NCBIMGSCv36mm8
Celera637,964,245 - 38,027,521 (-)NCBICelera
Cytogenetic Map6B1NCBI
cM Map617.34NCBI
Svopl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8467,663,652 - 67,725,691 (-)NCBIGRCr8
mRatBN7.2466,697,550 - 66,751,699 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl466,698,177 - 66,758,978 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0465,667,164 - 65,733,222 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl465,668,338 - 65,733,001 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0465,483,069 - 65,550,507 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4465,526,613 - 65,585,386 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera461,720,801 - 61,778,225 (-)NCBICelera
Cytogenetic Map4q23NCBI
Svopl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554944,252,452 - 4,303,187 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554944,252,086 - 4,353,472 (+)NCBIChiLan1.0ChiLan1.0
SVOPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26175,410,614 - 175,493,619 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1727,420,866 - 27,503,759 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07130,555,572 - 130,661,267 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17143,045,251 - 143,127,415 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7143,045,251 - 143,127,415 (-)Ensemblpanpan1.1panPan2
SVOPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1169,949,845 - 10,023,997 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl169,963,536 - 10,024,502 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1610,790,812 - 10,867,425 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0169,870,043 - 9,947,349 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl169,871,564 - 9,947,346 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1169,818,190 - 9,895,206 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0169,661,531 - 9,742,033 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0169,734,994 - 9,812,294 (+)NCBIUU_Cfam_GSD_1.0
Svopl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511816,211,744 - 16,253,454 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365922,969,764 - 3,025,500 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365922,966,349 - 3,025,500 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SVOPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1810,968,790 - 11,043,021 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11810,968,717 - 11,045,365 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21811,432,356 - 11,506,645 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SVOPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121107,299,711 - 107,383,327 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21107,300,028 - 107,363,538 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660724,151,482 - 4,217,162 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Svopl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476519,084,941 - 19,147,825 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476519,084,906 - 19,142,849 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SVOPL
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1 copy number loss See cases [RCV000054174] Chr7:137741740..139688885 [GRCh38]
Chr7:137426486..139373631 [GRCh37]
Chr7:137077026..139024171 [NCBI36]
Chr7:7q33-34		 pathogenic
NC_000007.14:g.138700023G>A single nucleotide variant Lung cancer [RCV000105671] Chr7:138700023 [GRCh38]
Chr7:138384768 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_001139456.2(SVOPL):c.430C>T (p.Arg144Trp) single nucleotide variant Inborn genetic diseases [RCV003262104] Chr7:138659904 [GRCh38]
Chr7:138344649 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1282C>T (p.Arg428Cys) single nucleotide variant Inborn genetic diseases [RCV003244714] Chr7:138621117 [GRCh38]
Chr7:138305862 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3 copy number gain See cases [RCV000512176] Chr7:137434852..140349546 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34(chr7:138323516-138673567)x3 copy number gain not provided [RCV000747066] Chr7:138323516..138673567 [GRCh37]
Chr7:7q34		 benign
NM_001139456.2(SVOPL):c.970G>T (p.Gly324Trp) single nucleotide variant Inborn genetic diseases [RCV003245582] Chr7:138628257 [GRCh38]
Chr7:138313002 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.648C>T (p.Ile216=) single nucleotide variant not provided [RCV000900225] Chr7:138649024 [GRCh38]
Chr7:138333769 [GRCh37]
Chr7:7q34		 benign
NM_001139456.2(SVOPL):c.679C>T (p.Arg227Trp) single nucleotide variant not provided [RCV000885194] Chr7:138644827 [GRCh38]
Chr7:138329572 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001139456.2(SVOPL):c.508C>T (p.Arg170Ter) single nucleotide variant not provided [RCV000960041] Chr7:138656474 [GRCh38]
Chr7:138341219 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q34(chr7:138320325-138371839)x1 copy number loss not provided [RCV001006020] Chr7:138320325..138371839 [GRCh37]
Chr7:7q34		 likely benign
NM_001139456.2(SVOPL):c.669T>C (p.Pro223=) single nucleotide variant not provided [RCV000958359] Chr7:138644837 [GRCh38]
Chr7:138329582 [GRCh37]
Chr7:7q34		 likely benign
NM_001139456.2(SVOPL):c.985G>A (p.Glu329Lys) single nucleotide variant not provided [RCV000976849] Chr7:138628242 [GRCh38]
Chr7:138312987 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1 copy number loss not provided [RCV000846410] Chr7:137675423..139084024 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q33-34(chr7:137848980-138897699)x3 copy number gain not provided [RCV000846058] Chr7:137848980..138897699 [GRCh37]
Chr7:7q33-34		 uncertain significance
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1 copy number loss not provided [RCV001006019] Chr7:135677938..139810886 [GRCh37]
Chr7:7q33-34		 pathogenic
NM_001139456.2(SVOPL):c.598G>A (p.Gly200Arg) single nucleotide variant not provided [RCV000916713] Chr7:138649074 [GRCh38]
Chr7:138333819 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_001139456.2(SVOPL):c.663del (p.Phe221fs) deletion Non-immune hydrops fetalis [RCV001844401] Chr7:138644843 [GRCh38]
Chr7:138329588 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_001139456.2(SVOPL):c.976G>T (p.Asp326Tyr) single nucleotide variant Inborn genetic diseases [RCV002727570] Chr7:138628251 [GRCh38]
Chr7:138312996 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.148C>A (p.Leu50Ile) single nucleotide variant Inborn genetic diseases [RCV002749141] Chr7:138678460 [GRCh38]
Chr7:138363205 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1322T>A (p.Ile441Asn) single nucleotide variant Inborn genetic diseases [RCV002952269] Chr7:138621077 [GRCh38]
Chr7:138305822 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.895A>T (p.Ile299Phe) single nucleotide variant Inborn genetic diseases [RCV002739617] Chr7:138628332 [GRCh38]
Chr7:138313077 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.995G>A (p.Ser332Asn) single nucleotide variant Inborn genetic diseases [RCV002822571] Chr7:138628232 [GRCh38]
Chr7:138312977 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1297G>A (p.Gly433Arg) single nucleotide variant Inborn genetic diseases [RCV002853736] Chr7:138621102 [GRCh38]
Chr7:138305847 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.500C>T (p.Thr167Met) single nucleotide variant Inborn genetic diseases [RCV002804638] Chr7:138656482 [GRCh38]
Chr7:138341227 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.551G>T (p.Gly184Val) single nucleotide variant Inborn genetic diseases [RCV002892719] Chr7:138649121 [GRCh38]
Chr7:138333866 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.956C>T (p.Ala319Val) single nucleotide variant Inborn genetic diseases [RCV002641656] Chr7:138628271 [GRCh38]
Chr7:138313016 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1466A>G (p.Gln489Arg) single nucleotide variant Inborn genetic diseases [RCV002709271] Chr7:138596418 [GRCh38]
Chr7:138281163 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1111C>T (p.Arg371Trp) single nucleotide variant Inborn genetic diseases [RCV002956529] Chr7:138627420 [GRCh38]
Chr7:138312165 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1277C>A (p.Thr426Lys) single nucleotide variant Inborn genetic diseases [RCV002827411] Chr7:138621122 [GRCh38]
Chr7:138305867 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1457G>C (p.Arg486Pro) single nucleotide variant Inborn genetic diseases [RCV002718640] Chr7:138596427 [GRCh38]
Chr7:138281172 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.407C>T (p.Ser136Leu) single nucleotide variant Inborn genetic diseases [RCV002674310] Chr7:138659927 [GRCh38]
Chr7:138344672 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.884A>G (p.Tyr295Cys) single nucleotide variant Inborn genetic diseases [RCV002965402] Chr7:138628343 [GRCh38]
Chr7:138313088 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1361T>C (p.Met454Thr) single nucleotide variant Inborn genetic diseases [RCV002961277] Chr7:138596523 [GRCh38]
Chr7:138281268 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.227G>A (p.Arg76His) single nucleotide variant Inborn genetic diseases [RCV002768783] Chr7:138672065 [GRCh38]
Chr7:138356810 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.499A>G (p.Thr167Ala) single nucleotide variant Inborn genetic diseases [RCV002940426] Chr7:138656483 [GRCh38]
Chr7:138341228 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1142C>T (p.Thr381Met) single nucleotide variant Inborn genetic diseases [RCV002677128] Chr7:138627389 [GRCh38]
Chr7:138312134 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.781C>A (p.Pro261Thr) single nucleotide variant Inborn genetic diseases [RCV002679287] Chr7:138644725 [GRCh38]
Chr7:138329470 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.146C>A (p.Ala49Asp) single nucleotide variant Inborn genetic diseases [RCV003215366] Chr7:138678462 [GRCh38]
Chr7:138363207 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.1468C>A (p.Gln490Lys) single nucleotide variant Inborn genetic diseases [RCV003175769] Chr7:138594621 [GRCh38]
Chr7:138279366 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.835C>T (p.Arg279Trp) single nucleotide variant Inborn genetic diseases [RCV003185804] Chr7:138630077 [GRCh38]
Chr7:138314822 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.518T>C (p.Met173Thr) single nucleotide variant Inborn genetic diseases [RCV003197663] Chr7:138656464 [GRCh38]
Chr7:138341209 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_001139456.2(SVOPL):c.1085T>C (p.Ile362Thr) single nucleotide variant Inborn genetic diseases [RCV003357823] Chr7:138627446 [GRCh38]
Chr7:138312191 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001139456.2(SVOPL):c.548C>T (p.Ala183Val) single nucleotide variant Inborn genetic diseases [RCV003376361] Chr7:138649124 [GRCh38]
Chr7:138333869 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1026
Count of miRNA genes:461
Interacting mature miRNAs:505
Transcripts:ENST00000288513, ENST00000419765, ENST00000421622, ENST00000436657, ENST00000441685, ENST00000463557, ENST00000478865
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
D7S2450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,316,660 - 138,316,762UniSTSGRCh37
GRCh377138,316,649 - 138,316,817UniSTSGRCh37
Build 367137,967,200 - 137,967,302RGDNCBI36
Celera7133,054,517 - 133,054,619RGD
Celera7133,054,506 - 133,054,674UniSTS
Cytogenetic Map7q34UniSTS
HuRef7132,625,942 - 132,626,044UniSTS
HuRef7132,625,931 - 132,626,099UniSTS
CRA_TCAGchr7v27137,660,883 - 137,661,051UniSTS
CRA_TCAGchr7v27137,660,894 - 137,660,996UniSTS
Marshfield Genetic Map7146.28RGD
Marshfield Genetic Map7146.28UniSTS
Genethon Genetic Map7148.6UniSTS
TNG Radiation Hybrid Map761680.0UniSTS
deCODE Assembly Map7146.24UniSTS
Stanford-G3 RH Map77107.0UniSTS
GeneMap99-GB4 RH Map7636.57UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71298.7UniSTS
GeneMap99-G3 RH Map77608.0UniSTS
G17152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377138,350,097 - 138,350,266UniSTSGRCh37
Build 367138,000,637 - 138,000,806RGDNCBI36
Celera7133,087,877 - 133,088,046RGD
Cytogenetic Map7q34UniSTS
HuRef7132,661,021 - 132,661,190UniSTS
CRA_TCAGchr7v27137,694,291 - 137,694,460UniSTS
D7S2450  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q34UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 1 20 2
Low 123 14 385 144 35 4 365 1 308 181 515 193 140 2 138 1
Below cutoff 1493 998 936 135 758 116 2307 872 2916 118 711 1199 27 666 1354 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL704123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX349158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288513   ⟹   ENSP00000288513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,285 - 138,663,152 (-)Ensembl
RefSeq Acc Id: ENST00000419765   ⟹   ENSP00000405482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,285 - 138,679,045 (-)Ensembl
RefSeq Acc Id: ENST00000421622   ⟹   ENSP00000412830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,285 - 138,701,352 (-)Ensembl
RefSeq Acc Id: ENST00000436657   ⟹   ENSP00000417018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,286 - 138,664,224 (-)Ensembl
RefSeq Acc Id: ENST00000441685   ⟹   ENSP00000393487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,285 - 138,663,571 (-)Ensembl
RefSeq Acc Id: ENST00000463557   ⟹   ENSP00000501339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,437 - 138,627,444 (-)Ensembl
RefSeq Acc Id: ENST00000478865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,287 - 138,626,094 (-)Ensembl
RefSeq Acc Id: ENST00000674285   ⟹   ENSP00000501457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7138,594,285 - 138,701,362 (-)Ensembl
RefSeq Acc Id: NM_001139456   ⟹   NP_001132928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,701,362 (-)NCBI
GRCh377138,279,030 - 138,385,969 (-)NCBI
Celera7133,017,684 - 133,101,567 (-)RGD
HuRef7132,588,049 - 132,674,714 (-)RGD
CHM1_17138,212,314 - 138,296,540 (-)NCBI
T2T-CHM13v2.07139,903,966 - 140,013,811 (-)NCBI
CRA_TCAGchr7v27137,624,061 - 137,707,981 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001331192   ⟹   NP_001318121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,224 (-)NCBI
T2T-CHM13v2.07139,903,966 - 139,976,677 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174959   ⟹   NP_777619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,224 (-)NCBI
GRCh377138,279,030 - 138,385,969 (-)NCBI
Build 367137,929,570 - 137,999,509 (-)NCBI Archive
Celera7133,017,684 - 133,101,567 (-)RGD
HuRef7132,588,049 - 132,674,714 (-)RGD
CHM1_17138,212,314 - 138,281,720 (-)NCBI
T2T-CHM13v2.07139,903,966 - 139,976,677 (-)NCBI
CRA_TCAGchr7v27137,624,061 - 137,707,981 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515797   ⟹   XP_011514099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,672,107 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011747   ⟹   XP_016867236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,825 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011748   ⟹   XP_016867237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,665,490 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446654   ⟹   XP_024302422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,825 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446655   ⟹   XP_024302423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,665,493 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419887   ⟹   XP_047275843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,825 (-)NCBI
RefSeq Acc Id: XM_047419888   ⟹   XP_047275844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387138,594,285 - 138,664,825 (-)NCBI
RefSeq Acc Id: XM_054357247   ⟹   XP_054213222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,283 (-)NCBI
RefSeq Acc Id: XM_054357248   ⟹   XP_054213223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,945 (-)NCBI
RefSeq Acc Id: XM_054357249   ⟹   XP_054213224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,276 (-)NCBI
RefSeq Acc Id: XM_054357250   ⟹   XP_054213225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,283 (-)NCBI
RefSeq Acc Id: XM_054357251   ⟹   XP_054213226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,984,560 (-)NCBI
RefSeq Acc Id: XM_054357252   ⟹   XP_054213227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,943 (-)NCBI
RefSeq Acc Id: XM_054357253   ⟹   XP_054213228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07139,903,966 - 139,977,283 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001132928 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318121 (Get FASTA)   NCBI Sequence Viewer  
  NP_777619 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514099 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867236 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867237 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302422 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302423 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275843 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213228 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36796 (Get FASTA)   NCBI Sequence Viewer  
  EAW83887 (Get FASTA)   NCBI Sequence Viewer  
  EAW83888 (Get FASTA)   NCBI Sequence Viewer  
  EAW83889 (Get FASTA)   NCBI Sequence Viewer  
  EAW83890 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288513.5
  ENSP00000393487.1
  ENSP00000405482.2
  ENSP00000412830.1
  ENSP00000417018
  ENSP00000417018.1
  ENSP00000501339.1
  ENSP00000501457
  ENSP00000501457.1
GenBank Protein Q8N434 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001132928   ⟸   NM_001139456
- Peptide Label: isoform 1
- UniProtKB: Q8N434 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_777619   ⟸   NM_174959
- Peptide Label: isoform 2
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514099   ⟸   XM_011515797
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867237   ⟸   XM_017011748
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867236   ⟸   XM_017011747
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302423   ⟸   XM_024446655
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302422   ⟸   XM_024446654
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001318121   ⟸   NM_001331192
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000501339   ⟸   ENST00000463557
RefSeq Acc Id: ENSP00000501457   ⟸   ENST00000674285
RefSeq Acc Id: ENSP00000393487   ⟸   ENST00000441685
RefSeq Acc Id: ENSP00000405482   ⟸   ENST00000419765
RefSeq Acc Id: ENSP00000288513   ⟸   ENST00000288513
RefSeq Acc Id: ENSP00000412830   ⟸   ENST00000421622
RefSeq Acc Id: ENSP00000417018   ⟸   ENST00000436657
RefSeq Acc Id: XP_047275844   ⟸   XM_047419888
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275843   ⟸   XM_047419887
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213226   ⟸   XM_054357251
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213223   ⟸   XM_054357248
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213227   ⟸   XM_054357252
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213228   ⟸   XM_054357253
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213225   ⟸   XM_054357250
- Peptide Label: isoform X3
- UniProtKB: C9JVJ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213222   ⟸   XM_054357247
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213224   ⟸   XM_054357249
- Peptide Label: isoform X2
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N434-F1-model_v2 AlphaFold Q8N434 1-492 view protein structure

Promoters
RGD ID:6806248
Promoter ID:HG_KWN:59897
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000342094
Position:
Human AssemblyChrPosition (strand)Source
Build 367137,961,046 - 137,961,546 (-)MPROMDB
RGD ID:7212025
Promoter ID:EPDNEW_H11758
Type:initiation region
Name:SVOPL_1
Description:SVOP like
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
GRCh387138,664,256 - 138,664,316EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27034 AgrOrtholog
COSMIC SVOPL COSMIC
Ensembl Genes ENSG00000157703 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288513.9 UniProtKB/Swiss-Prot
  ENST00000419765.4 UniProtKB/Swiss-Prot
  ENST00000421622.5 UniProtKB/TrEMBL
  ENST00000436657 ENTREZGENE
  ENST00000436657.5 UniProtKB/Swiss-Prot
  ENST00000441685.5 UniProtKB/TrEMBL
  ENST00000463557.1 UniProtKB/TrEMBL
  ENST00000674285 ENTREZGENE
  ENST00000674285.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157703 GTEx
HGNC ID HGNC:27034 ENTREZGENE
Human Proteome Map SVOPL Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_sugar_transport-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:136306 UniProtKB/Swiss-Prot
NCBI Gene 136306 ENTREZGENE
OMIM 611700 OMIM
PANTHER SVOP LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTIC VESICLE GLYCOPROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot
  Sugar_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162405089 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PL26_HUMAN UniProtKB/TrEMBL
  C9JVJ9 ENTREZGENE, UniProtKB/TrEMBL
  F8WES3_HUMAN UniProtKB/TrEMBL
  Q8N434 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 SVOPL  SVOP like    SVOP-like  Symbol and/or name change 5135510 APPROVED