SULF1 (sulfatase 1) - Rat Genome Database

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Gene: SULF1 (sulfatase 1) Homo sapiens
Analyze
Symbol: SULF1
Name: sulfatase 1
RGD ID: 733350
HGNC Page HGNC:20391
Description: Enables N-acetylglucosamine-6-sulfatase activity and arylsulfatase activity. Involved in several processes, including heparan sulfate proteoglycan metabolic process; negative regulation of endothelial cell proliferation; and regulation of signal transduction. Located in several cellular components, including cell surface; endoplasmic reticulum; and membrane raft.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arylsulfatase; extracellular sulfatase Sulf-1; FLJ30905; FLJ38022; FLJ41750; HSULF-1; KIAA1077; N-acetylglucosamine-6-sulfatase; SULF-1; sulfatase FP
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
GRCh38869,466,781 - 69,660,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl869,466,624 - 69,660,915 (+)EnsemblGRCh38hg38GRCh38
GRCh37870,379,016 - 70,573,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36870,541,427 - 70,735,701 (+)NCBINCBI36Build 36hg18NCBI36
Build 34870,541,426 - 70,735,701NCBI
Celera866,376,556 - 66,570,879 (+)NCBICelera
Cytogenetic Map8q13.2-q13.3NCBI
HuRef865,873,300 - 66,067,259 (+)NCBIHuRef
CHM1_1870,434,286 - 70,628,552 (+)NCBICHM1_1
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)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
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bucladesine  (EXP)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
disodium selenite  (EXP)
disulfiram  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
glufosinate  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
Muraglitazar  (ISO)
nickel sulfate  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10470851   PMID:11230166   PMID:12368295   PMID:12477932   PMID:12686563   PMID:14699503   PMID:14702039   PMID:14973553   PMID:15146197   PMID:15817123   PMID:16192265   PMID:16344560  
PMID:16603650   PMID:16762634   PMID:16778174   PMID:17044071   PMID:17113870   PMID:17310998   PMID:17363371   PMID:17437011   PMID:17460759   PMID:17720696   PMID:17728400   PMID:18213582  
PMID:18503048   PMID:18507859   PMID:18687675   PMID:19006069   PMID:19086847   PMID:19373441   PMID:19376607   PMID:19487294   PMID:19520866   PMID:19666466   PMID:19780053   PMID:19822709  
PMID:19953087   PMID:20083228   PMID:20084279   PMID:20379614   PMID:20394677   PMID:20479257   PMID:20602915   PMID:20643830   PMID:20677014   PMID:20816204   PMID:20855470   PMID:21104785  
PMID:21214932   PMID:21228115   PMID:21266348   PMID:21594647   PMID:21599997   PMID:21722266   PMID:21732829   PMID:21808097   PMID:21832049   PMID:21853101   PMID:21873635   PMID:21998595  
PMID:22086394   PMID:22198210   PMID:22304734   PMID:22410212   PMID:22429964   PMID:22524839   PMID:22581228   PMID:22653794   PMID:22664934   PMID:22700218   PMID:22825572   PMID:22873647  
PMID:22903264   PMID:22906644   PMID:23000194   PMID:23053899   PMID:23074159   PMID:23136428   PMID:23182495   PMID:23359864   PMID:23418199   PMID:23457216   PMID:23480519   PMID:23684551  
PMID:23772371   PMID:23891937   PMID:23950901   PMID:24322345   PMID:24453475   PMID:24596063   PMID:24726914   PMID:24782989   PMID:24911625   PMID:24970807   PMID:25105093   PMID:25325968  
PMID:25469740   PMID:25477293   PMID:25681501   PMID:25863062   PMID:26131010   PMID:27013228   PMID:27294358   PMID:27693418   PMID:27806323   PMID:28169314   PMID:28327460   PMID:28514442  
PMID:28525382   PMID:29360432   PMID:29684635   PMID:29843217   PMID:30442949   PMID:30471916   PMID:30924907   PMID:31878997   PMID:31898662   PMID:32031713   PMID:32377705   PMID:32421262  
PMID:32432744   PMID:33961781   PMID:34029511   PMID:35914814   PMID:36622753  


Genomics

Comparative Map Data
SULF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38869,466,781 - 69,660,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl869,466,624 - 69,660,915 (+)EnsemblGRCh38hg38GRCh38
GRCh37870,379,016 - 70,573,147 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36870,541,427 - 70,735,701 (+)NCBINCBI36Build 36hg18NCBI36
Build 34870,541,426 - 70,735,701NCBI
Celera866,376,556 - 66,570,879 (+)NCBICelera
Cytogenetic Map8q13.2-q13.3NCBI
HuRef865,873,300 - 66,067,259 (+)NCBIHuRef
CHM1_1870,434,286 - 70,628,552 (+)NCBICHM1_1
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBIT2T-CHM13v2.0
Sulf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39112,762,421 - 12,946,090 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl112,762,501 - 12,931,416 (+)EnsemblGRCm39 Ensembl
GRCm38112,692,197 - 12,861,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl112,692,277 - 12,861,192 (+)EnsemblGRCm38mm10GRCm38
MGSCv37112,708,626 - 12,850,453 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36112,703,759 - 12,845,586 (+)NCBIMGSCv36mm8
Celera112,674,009 - 12,818,160 (+)NCBICelera
Cytogenetic Map1A3NCBI
cM Map13.35NCBI
Sulf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8511,145,950 - 11,308,622 (-)NCBIGRCr8
mRatBN7.256,362,894 - 6,526,174 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl56,362,911 - 6,525,584 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx58,506,204 - 8,668,267 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0510,145,085 - 10,307,145 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.059,840,811 - 10,002,898 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.055,999,520 - 6,186,901 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl55,999,475 - 6,186,329 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0510,835,826 - 11,022,966 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.455,582,896 - 5,748,106 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.155,582,895 - 5,748,106 (-)NCBI
Celera55,940,442 - 6,101,438 (-)NCBICelera
Cytogenetic Map5q11NCBI
Sulf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554449,899,941 - 9,974,666 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554449,902,334 - 10,066,929 (-)NCBIChiLan1.0ChiLan1.0
SULF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2785,190,266 - 85,392,219 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1860,855,619 - 61,031,477 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0865,992,961 - 66,194,112 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1867,647,122 - 67,848,704 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl867,744,801 - 67,848,704 (+)Ensemblpanpan1.1panPan2
SULF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12918,709,406 - 18,885,248 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2918,709,445 - 18,884,378 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2919,128,552 - 19,208,583 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02918,801,739 - 18,977,405 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2918,801,808 - 18,977,403 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12918,940,318 - 19,020,356 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02919,006,936 - 19,086,917 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02919,287,388 - 19,367,499 (+)NCBIUU_Cfam_GSD_1.0
Sulf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530369,853,463 - 70,029,671 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364964,755,754 - 4,893,027 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364964,755,806 - 4,931,964 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SULF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl465,595,951 - 65,778,884 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1465,595,947 - 65,778,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2471,262,318 - 71,419,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SULF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1865,242,921 - 65,435,374 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl865,341,154 - 65,435,450 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603976,027,348 - 76,229,656 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sulf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474421,484,834 - 21,685,577 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474421,484,934 - 21,685,476 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SULF1
213 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 copy number loss See cases [RCV000050801] Chr8:68488015..71476177 [GRCh38]
Chr8:69400250..72388412 [GRCh37]
Chr8:69562804..72550966 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_001128204.1(SULF1):c.231C>T (p.Phe77=) single nucleotide variant Malignant melanoma [RCV000068379] Chr8:69576028 [GRCh38]
Chr8:70488263 [GRCh37]
Chr8:70650817 [NCBI36]
Chr8:8q13.2
not provided
NM_001128204.1(SULF1):c.2368T>A (p.Phe790Ile) single nucleotide variant Malignant melanoma [RCV000068380] Chr8:69638585 [GRCh38]
Chr8:70550820 [GRCh37]
Chr8:70713374 [NCBI36]
Chr8:8q13.3
not provided
NM_001128204.1(SULF1):c.849C>T (p.Leu283=) single nucleotide variant Malignant melanoma [RCV000061828] Chr8:69600717 [GRCh38]
Chr8:70512952 [GRCh37]
Chr8:70675506 [NCBI36]
Chr8:8q13.3
not provided
NM_001128204.1(SULF1):c.-133-28555G>T single nucleotide variant Lung cancer [RCV000107639] Chr8:69534984 [GRCh38]
Chr8:70447219 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1483C>G (p.Arg495Gly) single nucleotide variant not provided [RCV002056923]|not specified [RCV000174704] Chr8:69621140 [GRCh38]
Chr8:70533375 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met) single nucleotide variant not provided [RCV001852171]|not specified [RCV000176173] Chr8:69638747 [GRCh38]
Chr8:70550982 [GRCh37]
Chr8:8q13.3
benign|uncertain significance
GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 copy number loss See cases [RCV000134801] Chr8:68987881..71640028 [GRCh38]
Chr8:69900116..72552263 [GRCh37]
Chr8:70062670..72714817 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 copy number loss See cases [RCV000138251] Chr8:68987835..71663466 [GRCh38]
Chr8:69900070..72575701 [GRCh37]
Chr8:70062624..72738255 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207377] Chr8:69586473 [GRCh38]
Chr8:70498708 [GRCh37]
Chr8:8q13.2
likely benign|uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1 copy number loss See cases [RCV000240421] Chr8:69955127..72552241 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_001128205.2(SULF1):c.2194C>T (p.Arg732Trp) single nucleotide variant Inborn genetic diseases [RCV002518837]|not provided [RCV000274669]|not specified [RCV000764779] Chr8:69629589 [GRCh38]
Chr8:70541824 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.901G>A (p.Val301Met) single nucleotide variant not provided [RCV000346021] Chr8:69601669 [GRCh38]
Chr8:70513904 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2531G>A (p.Arg844Lys) single nucleotide variant Inborn genetic diseases [RCV002521976]|not provided [RCV000288809] Chr8:69638838 [GRCh38]
Chr8:70551073 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1645G>A (p.Glu549Lys) single nucleotide variant not provided [RCV000363725] Chr8:69623992 [GRCh38]
Chr8:70536227 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.370C>T (p.Arg124Trp) single nucleotide variant not provided [RCV000299137] Chr8:69576167 [GRCh38]
Chr8:70488402 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) single nucleotide variant not provided [RCV000962920]|not specified [RCV000591775] Chr8:69603241 [GRCh38]
Chr8:70515476 [GRCh37]
Chr8:8q13.3
benign|likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:70552116-70595006)x3 copy number gain See cases [RCV000446361] Chr8:70552116..70595006 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000446721] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000510185] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001128205.2(SULF1):c.68C>T (p.Ser23Leu) single nucleotide variant Inborn genetic diseases [RCV003243212]|not provided [RCV000596909] Chr8:69564043 [GRCh38]
Chr8:70476278 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.151G>A (p.Asp51Asn) single nucleotide variant Inborn genetic diseases [RCV003257264] Chr8:69564126 [GRCh38]
Chr8:70476361 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.2165G>A (p.Arg722Lys) single nucleotide variant Inborn genetic diseases [RCV003290810] Chr8:69629560 [GRCh38]
Chr8:70541795 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1123G>A (p.Asp375Asn) single nucleotide variant not provided [RCV000595724] Chr8:69603253 [GRCh38]
Chr8:70515488 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.364G>T (p.Glu122Ter) single nucleotide variant not provided [RCV000595791] Chr8:69576161 [GRCh38]
Chr8:70488396 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.669G>T (p.Ala223=) single nucleotide variant not provided [RCV000971901]|not specified [RCV000597744] Chr8:69589076 [GRCh38]
Chr8:70501311 [GRCh37]
Chr8:8q13.2
benign|likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001128205.2(SULF1):c.2042+115C>T single nucleotide variant not provided [RCV001708718] Chr8:69627981 [GRCh38]
Chr8:70540216 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1371G>A (p.Pro457=) single nucleotide variant not provided [RCV000947114] Chr8:69604926 [GRCh38]
Chr8:70517161 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1392T>G (p.Ile464Met) single nucleotide variant not provided [RCV000971376] Chr8:69621049 [GRCh38]
Chr8:70533284 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1789A>G (p.Arg597Gly) single nucleotide variant not provided [RCV000965079] Chr8:69624136 [GRCh38]
Chr8:70536371 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.267G>A (p.Pro89=) single nucleotide variant not provided [RCV000961870] Chr8:69576064 [GRCh38]
Chr8:70488299 [GRCh37]
Chr8:8q13.2
benign
NM_001128205.2(SULF1):c.1016G>A (p.Arg339His) single nucleotide variant Inborn genetic diseases [RCV003247576] Chr8:69601784 [GRCh38]
Chr8:70514019 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.3(chr8:70529128-70961291)x1 copy number loss not provided [RCV000846826] Chr8:70529128..70961291 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1259G>A (p.Arg420His) single nucleotide variant Inborn genetic diseases [RCV003240002] Chr8:69604814 [GRCh38]
Chr8:70517049 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.564+165T>C single nucleotide variant not provided [RCV001671586] Chr8:69586673 [GRCh38]
Chr8:70498908 [GRCh37]
Chr8:8q13.2
benign
NM_001128205.2(SULF1):c.735-145T>G single nucleotide variant not provided [RCV001669888] Chr8:69600458 [GRCh38]
Chr8:70512693 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.2195G>A (p.Arg732Gln) single nucleotide variant not provided [RCV000886711] Chr8:69629590 [GRCh38]
Chr8:70541825 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.888G>A (p.Leu296=) single nucleotide variant not provided [RCV000953760] Chr8:69601656 [GRCh38]
Chr8:70513891 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.675C>T (p.His225=) single nucleotide variant not provided [RCV000952556] Chr8:69589082 [GRCh38]
Chr8:70501317 [GRCh37]
Chr8:8q13.2
benign
NM_001128205.2(SULF1):c.2169G>A (p.Arg723=) single nucleotide variant not provided [RCV000891430] Chr8:69629564 [GRCh38]
Chr8:70541799 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8q13.2-13.3(chr8:69705240-70522119)x3 copy number gain not provided [RCV001006111] Chr8:69705240..70522119 [GRCh37]
Chr8:8q13.2-13.3
uncertain significance
NM_001128205.2(SULF1):c.2108+211G>C single nucleotide variant not provided [RCV001655299] Chr8:69628447 [GRCh38]
Chr8:70540682 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.886-34A>G single nucleotide variant not provided [RCV001698845] Chr8:69601620 [GRCh38]
Chr8:70513855 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1248-69G>A single nucleotide variant not provided [RCV001709351] Chr8:69604734 [GRCh38]
Chr8:70516969 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1248-98G>T single nucleotide variant not provided [RCV001541516] Chr8:69604705 [GRCh38]
Chr8:70516940 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1061+52A>G single nucleotide variant not provided [RCV001539936] Chr8:69601881 [GRCh38]
Chr8:70514116 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.885+287del deletion not provided [RCV001616851] Chr8:69601039 [GRCh38]
Chr8:70513274 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.413-91G>A single nucleotide variant not provided [RCV001694820] Chr8:69586266 [GRCh38]
Chr8:70498501 [GRCh37]
Chr8:8q13.2
benign
NM_001128205.2(SULF1):c.735-109A>G single nucleotide variant not provided [RCV001685073] Chr8:69600494 [GRCh38]
Chr8:70512729 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1948-96G>A single nucleotide variant not provided [RCV001683836] Chr8:69627676 [GRCh38]
Chr8:70539911 [GRCh37]
Chr8:8q13.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001128205.2(SULF1):c.1764G>T (p.Gln588His) single nucleotide variant not provided [RCV001871304] Chr8:69624111 [GRCh38]
Chr8:70536346 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.458C>T (p.Pro153Leu) single nucleotide variant not provided [RCV002040994] Chr8:69586402 [GRCh38]
Chr8:70498637 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.641C>T (p.Pro214Leu) single nucleotide variant not provided [RCV001895408] Chr8:69589048 [GRCh38]
Chr8:70501283 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
NM_001128205.2(SULF1):c.1837C>G (p.Arg613Gly) single nucleotide variant not provided [RCV002044483] Chr8:69624184 [GRCh38]
Chr8:70536419 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1039C>T (p.Pro347Ser) single nucleotide variant not provided [RCV001894685] Chr8:69601807 [GRCh38]
Chr8:70514042 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1595A>G (p.Lys532Arg) single nucleotide variant Inborn genetic diseases [RCV003164213]|not provided [RCV001872675] Chr8:69623942 [GRCh38]
Chr8:70536177 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1490T>G (p.Phe497Cys) single nucleotide variant not provided [RCV002025889] Chr8:69621147 [GRCh38]
Chr8:70533382 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1954G>A (p.Ala652Thr) single nucleotide variant not provided [RCV001874998] Chr8:69627778 [GRCh38]
Chr8:70540013 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.181C>A (p.Gln61Lys) single nucleotide variant not provided [RCV001894254] Chr8:69575978 [GRCh38]
Chr8:70488213 [GRCh37]
Chr8:8q13.2
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1 copy number loss not provided [RCV001827961] Chr8:69894553..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_001128205.2(SULF1):c.1930G>A (p.Ala644Thr) single nucleotide variant not provided [RCV001912424] Chr8:69627289 [GRCh38]
Chr8:70539524 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.489C>G (p.Ile163Met) single nucleotide variant not provided [RCV001965847] Chr8:69586433 [GRCh38]
Chr8:70498668 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1508A>G (p.Glu503Gly) single nucleotide variant not provided [RCV001894731] Chr8:69621165 [GRCh38]
Chr8:70533400 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.113G>A (p.Arg38Gln) single nucleotide variant not provided [RCV002008005] Chr8:69564088 [GRCh38]
Chr8:70476323 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1075G>A (p.Val359Ile) single nucleotide variant not provided [RCV002024248] Chr8:69603205 [GRCh38]
Chr8:70515440 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1283A>C (p.Asn428Thr) single nucleotide variant not provided [RCV001965697] Chr8:69604838 [GRCh38]
Chr8:70517073 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.10:g.(?_70515407)_(70517187_?)dup duplication not provided [RCV001927991] Chr8:70515407..70517187 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645) copy number loss not specified [RCV002053771] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_001128205.2(SULF1):c.2306C>T (p.Thr769Met) single nucleotide variant not provided [RCV001909858] Chr8:69638523 [GRCh38]
Chr8:70550758 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1457G>A (p.Arg486Gln) single nucleotide variant not provided [RCV002023038] Chr8:69621114 [GRCh38]
Chr8:70533349 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.68C>A (p.Ser23Ter) single nucleotide variant not provided [RCV002000947] Chr8:69564043 [GRCh38]
Chr8:70476278 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1826C>G (p.Pro609Arg) single nucleotide variant not provided [RCV001881083] Chr8:69624173 [GRCh38]
Chr8:70536408 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.460C>G (p.Pro154Ala) single nucleotide variant Inborn genetic diseases [RCV002554131]|not provided [RCV001886990] Chr8:69586404 [GRCh38]
Chr8:70498639 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.62T>A (p.Leu21His) single nucleotide variant Inborn genetic diseases [RCV002555408]|not provided [RCV001906723] Chr8:69564037 [GRCh38]
Chr8:70476272 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.354G>A (p.Gln118=) single nucleotide variant not provided [RCV001888838] Chr8:69576151 [GRCh38]
Chr8:70488386 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1033C>T (p.Arg345Cys) single nucleotide variant not provided [RCV001886474] Chr8:69601801 [GRCh38]
Chr8:70514036 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.523C>T (p.Arg175Cys) single nucleotide variant not provided [RCV001953201] Chr8:69586467 [GRCh38]
Chr8:70498702 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.197C>T (p.Thr66Met) single nucleotide variant not provided [RCV001934067] Chr8:69575994 [GRCh38]
Chr8:70488229 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.2162G>A (p.Arg721His) single nucleotide variant not provided [RCV002027557] Chr8:69629557 [GRCh38]
Chr8:70541792 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1589C>T (p.Thr530Ile) single nucleotide variant not provided [RCV002029020] Chr8:69621246 [GRCh38]
Chr8:70533481 [GRCh37]
Chr8:8q13.3
uncertain significance
NC_000008.10:g.(?_70498572)_(70514084_?)dup duplication not provided [RCV002016663] Chr8:70498572..70514084 [GRCh37]
Chr8:8q13.2-13.3
uncertain significance
NM_001128205.2(SULF1):c.2154G>T (p.Glu718Asp) single nucleotide variant not provided [RCV001877236] Chr8:69629549 [GRCh38]
Chr8:70541784 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1709C>A (p.Pro570Gln) single nucleotide variant not provided [RCV002016079] Chr8:69624056 [GRCh38]
Chr8:70536291 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.282G>A (p.Met94Ile) single nucleotide variant not provided [RCV001961599] Chr8:69576079 [GRCh38]
Chr8:70488314 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1469G>A (p.Arg490Gln) single nucleotide variant not provided [RCV002029100] Chr8:69621126 [GRCh38]
Chr8:70533361 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.866_885+45dup duplication not provided [RCV002028668] Chr8:69600733..69600734 [GRCh38]
Chr8:70512968..70512969 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2315A>T (p.Asn772Ile) single nucleotide variant Inborn genetic diseases [RCV003348661]|not provided [RCV001936737] Chr8:69638532 [GRCh38]
Chr8:70550767 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.343C>G (p.Pro115Ala) single nucleotide variant not provided [RCV001924545] Chr8:69576140 [GRCh38]
Chr8:70488375 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1678GAA[6] (p.Glu564dup) microsatellite not provided [RCV001959446] Chr8:69624024..69624025 [GRCh38]
Chr8:70536259..70536260 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2288G>A (p.Gly763Glu) single nucleotide variant not provided [RCV001905889] Chr8:69638505 [GRCh38]
Chr8:70550740 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1256T>G (p.Leu419Arg) single nucleotide variant Inborn genetic diseases [RCV002562879]|not provided [RCV001981665] Chr8:69604811 [GRCh38]
Chr8:70517046 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2354C>T (p.Thr785Met) single nucleotide variant not provided [RCV001989857] Chr8:69638571 [GRCh38]
Chr8:70550806 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.311A>G (p.Asn104Ser) single nucleotide variant not provided [RCV001937205] Chr8:69576108 [GRCh38]
Chr8:70488343 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1727G>A (p.Arg576His) single nucleotide variant not provided [RCV002049789] Chr8:69624074 [GRCh38]
Chr8:70536309 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1223G>A (p.Arg408His) single nucleotide variant not provided [RCV001933450] Chr8:69603632 [GRCh38]
Chr8:70515867 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2019_2020delinsCA (p.Glu673_Glu674delinsAspLys) indel not provided [RCV001920062] Chr8:69627843..69627844 [GRCh38]
Chr8:70540078..70540079 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1378-15C>T single nucleotide variant not provided [RCV002188853] Chr8:69621020 [GRCh38]
Chr8:70533255 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2184G>A (p.Lys728=) single nucleotide variant not provided [RCV002076062] Chr8:69629579 [GRCh38]
Chr8:70541814 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.219G>C (p.Gly73=) single nucleotide variant not provided [RCV002087137] Chr8:69576016 [GRCh38]
Chr8:70488251 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1083C>T (p.Asn361=) single nucleotide variant not provided [RCV002127692] Chr8:69603213 [GRCh38]
Chr8:70515448 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1595-4del deletion not provided [RCV002147917] Chr8:69623938 [GRCh38]
Chr8:70536173 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.858G>A (p.Leu286=) single nucleotide variant not provided [RCV002188656] Chr8:69600726 [GRCh38]
Chr8:70512961 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.2551+18A>G single nucleotide variant not provided [RCV002132064] Chr8:69638876 [GRCh38]
Chr8:70551111 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.565-20del deletion not provided [RCV002214995] Chr8:69588952 [GRCh38]
Chr8:70501187 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.522T>C (p.Cys174=) single nucleotide variant not provided [RCV002193648] Chr8:69586466 [GRCh38]
Chr8:70498701 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1341G>A (p.Gln447=) single nucleotide variant not provided [RCV002097361] Chr8:69604896 [GRCh38]
Chr8:70517131 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1437C>G (p.Pro479=) single nucleotide variant not provided [RCV002080469] Chr8:69621094 [GRCh38]
Chr8:70533329 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1833T>C (p.Thr611=) single nucleotide variant not provided [RCV002173589] Chr8:69624180 [GRCh38]
Chr8:70536415 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2447C>T (p.Thr816Met) single nucleotide variant not provided [RCV002193258] Chr8:69638754 [GRCh38]
Chr8:70550989 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1914G>T (p.Ala638=) single nucleotide variant not provided [RCV002130652] Chr8:69627273 [GRCh38]
Chr8:70539508 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.1062-17C>T single nucleotide variant not provided [RCV002077450] Chr8:69603175 [GRCh38]
Chr8:70515410 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.414C>A (p.Ala138=) single nucleotide variant not provided [RCV002093470] Chr8:69586358 [GRCh38]
Chr8:70498593 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.664G>A (p.Ala222Thr) single nucleotide variant not provided [RCV002210005] Chr8:69589071 [GRCh38]
Chr8:70501306 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.345C>T (p.Pro115=) single nucleotide variant not provided [RCV002151886] Chr8:69576142 [GRCh38]
Chr8:70488377 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2108+9CT[2] microsatellite not provided [RCV002206986] Chr8:69628245..69628246 [GRCh38]
Chr8:70540480..70540481 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.348G>A (p.Ser116=) single nucleotide variant not provided [RCV002195708] Chr8:69576145 [GRCh38]
Chr8:70488380 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1122C>T (p.Leu374=) single nucleotide variant not provided [RCV002193668] Chr8:69603252 [GRCh38]
Chr8:70515487 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2427+16T>A single nucleotide variant not provided [RCV002077937] Chr8:69638660 [GRCh38]
Chr8:70550895 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.735-14C>T single nucleotide variant not provided [RCV002132265] Chr8:69600589 [GRCh38]
Chr8:70512824 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.734+8A>G single nucleotide variant not provided [RCV002201580] Chr8:69589149 [GRCh38]
Chr8:70501384 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.734+7A>T single nucleotide variant not provided [RCV002175649] Chr8:69589148 [GRCh38]
Chr8:70501383 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2585+16T>A single nucleotide variant not provided [RCV002160028] Chr8:69640857 [GRCh38]
Chr8:70553092 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.2025T>C (p.Cys675=) single nucleotide variant not provided [RCV002176179] Chr8:69627849 [GRCh38]
Chr8:70540084 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.327C>T (p.Asn109=) single nucleotide variant not provided [RCV002143085] Chr8:69576124 [GRCh38]
Chr8:70488359 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1481C>T (p.Ala494Val) single nucleotide variant not provided [RCV002143547] Chr8:69621138 [GRCh38]
Chr8:70533373 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.69G>A (p.Ser23=) single nucleotide variant not provided [RCV002143549] Chr8:69564044 [GRCh38]
Chr8:70476279 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1248-4G>A single nucleotide variant not provided [RCV002122528] Chr8:69604799 [GRCh38]
Chr8:70517034 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2284+20T>C single nucleotide variant not provided [RCV002180513] Chr8:69629699 [GRCh38]
Chr8:70541934 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2307G>A (p.Thr769=) single nucleotide variant not provided [RCV002220308] Chr8:69638524 [GRCh38]
Chr8:70550759 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1518T>C (p.Cys506=) single nucleotide variant not provided [RCV002135551] Chr8:69621175 [GRCh38]
Chr8:70533410 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1718T>C (p.Ile573Thr) single nucleotide variant not provided [RCV002102457] Chr8:69624065 [GRCh38]
Chr8:70536300 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2155AAC[1] (p.Asn720del) microsatellite not provided [RCV002140129] Chr8:69629550..69629552 [GRCh38]
Chr8:70541785..70541787 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.288C>T (p.Thr96=) single nucleotide variant not provided [RCV002099933] Chr8:69576085 [GRCh38]
Chr8:70488320 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1155C>T (p.Val385=) single nucleotide variant not provided [RCV002159773] Chr8:69603285 [GRCh38]
Chr8:70515520 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1377+9C>T single nucleotide variant not provided [RCV002103999] Chr8:69604941 [GRCh38]
Chr8:70517176 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2043-9C>T single nucleotide variant not provided [RCV002139809] Chr8:69628162 [GRCh38]
Chr8:70540397 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1190+17C>T single nucleotide variant not provided [RCV002121825] Chr8:69603337 [GRCh38]
Chr8:70515572 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.114A>C (p.Arg38=) single nucleotide variant not provided [RCV002204658] Chr8:69564089 [GRCh38]
Chr8:70476324 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2585+11T>C single nucleotide variant not provided [RCV002121168] Chr8:69640852 [GRCh38]
Chr8:70553087 [GRCh37]
Chr8:8q13.3
benign
NM_001128205.2(SULF1):c.2459G>T (p.Gly820Val) single nucleotide variant not provided [RCV003112526] Chr8:69638766 [GRCh38]
Chr8:70551001 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1100C>T (p.Thr367Met) single nucleotide variant not provided [RCV003116134] Chr8:69603230 [GRCh38]
Chr8:70515465 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.198G>A (p.Thr66=) single nucleotide variant not provided [RCV003121792] Chr8:69575995 [GRCh38]
Chr8:70488230 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2545G>C (p.Asp849His) single nucleotide variant not provided [RCV002303552] Chr8:69638852 [GRCh38]
Chr8:70551087 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.304A>C (p.Asn102His) single nucleotide variant not provided [RCV002991449] Chr8:69576101 [GRCh38]
Chr8:70488336 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.654G>A (p.Val218=) single nucleotide variant not provided [RCV003015497] Chr8:69589061 [GRCh38]
Chr8:70501296 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1447C>A (p.Leu483Ile) single nucleotide variant not provided [RCV002795005] Chr8:69621104 [GRCh38]
Chr8:70533339 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV002948169] Chr8:69586444 [GRCh38]
Chr8:70498679 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1532A>G (p.Tyr511Cys) single nucleotide variant not provided [RCV002686394] Chr8:69621189 [GRCh38]
Chr8:70533424 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.862T>G (p.Ser288Ala) single nucleotide variant not provided [RCV002618861] Chr8:69600730 [GRCh38]
Chr8:70512965 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1527T>C (p.Ser509=) single nucleotide variant not provided [RCV002636248] Chr8:69621184 [GRCh38]
Chr8:70533419 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2050A>G (p.Asn684Asp) single nucleotide variant not provided [RCV003014862] Chr8:69628178 [GRCh38]
Chr8:70540413 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.452A>G (p.Tyr151Cys) single nucleotide variant Inborn genetic diseases [RCV002858785] Chr8:69586396 [GRCh38]
Chr8:70498631 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.889T>C (p.Tyr297His) single nucleotide variant Inborn genetic diseases [RCV002865643] Chr8:69601657 [GRCh38]
Chr8:70513892 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1838G>A (p.Arg613Gln) single nucleotide variant not provided [RCV002685788] Chr8:69624185 [GRCh38]
Chr8:70536420 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1061+4C>T single nucleotide variant not provided [RCV002621497] Chr8:69601833 [GRCh38]
Chr8:70514068 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.120C>T (p.Asn40=) single nucleotide variant not provided [RCV002825060] Chr8:69564095 [GRCh38]
Chr8:70476330 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2158A>G (p.Asn720Asp) single nucleotide variant not provided [RCV002571015] Chr8:69629553 [GRCh38]
Chr8:70541788 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1061+14T>C single nucleotide variant not provided [RCV002662861] Chr8:69601843 [GRCh38]
Chr8:70514078 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1289A>G (p.Gln430Arg) single nucleotide variant Inborn genetic diseases [RCV002849357] Chr8:69604844 [GRCh38]
Chr8:70517079 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1466C>T (p.Thr489Met) single nucleotide variant Inborn genetic diseases [RCV002703687] Chr8:69621123 [GRCh38]
Chr8:70533358 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1832C>T (p.Thr611Ile) single nucleotide variant Inborn genetic diseases [RCV002868249] Chr8:69624179 [GRCh38]
Chr8:70536414 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1539C>T (p.Ala513=) single nucleotide variant not provided [RCV003053099] Chr8:69621196 [GRCh38]
Chr8:70533431 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2523C>A (p.Cys841Ter) single nucleotide variant not provided [RCV002885187] Chr8:69638830 [GRCh38]
Chr8:70551065 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1133C>A (p.Pro378His) single nucleotide variant not provided [RCV003053717] Chr8:69603263 [GRCh38]
Chr8:70515498 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.76A>G (p.Arg26Gly) single nucleotide variant not provided [RCV002621470] Chr8:69564051 [GRCh38]
Chr8:70476286 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1816G>C (p.Val606Leu) single nucleotide variant not provided [RCV002795814] Chr8:69624163 [GRCh38]
Chr8:70536398 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1622G>A (p.Arg541Gln) single nucleotide variant Inborn genetic diseases [RCV002756797]|not provided [RCV002800247] Chr8:69623969 [GRCh38]
Chr8:70536204 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.328G>A (p.Glu110Lys) single nucleotide variant Inborn genetic diseases [RCV002822198] Chr8:69576125 [GRCh38]
Chr8:70488360 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.458C>A (p.Pro153His) single nucleotide variant not provided [RCV002667972] Chr8:69586402 [GRCh38]
Chr8:70498637 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.637A>G (p.Arg213Gly) single nucleotide variant not provided [RCV002932181] Chr8:69589044 [GRCh38]
Chr8:70501279 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.545A>G (p.His182Arg) single nucleotide variant not provided [RCV002663519] Chr8:69586489 [GRCh38]
Chr8:70498724 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1174G>A (p.Glu392Lys) single nucleotide variant Inborn genetic diseases [RCV002919553] Chr8:69603304 [GRCh38]
Chr8:70515539 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1196G>A (p.Arg399Gln) single nucleotide variant not provided [RCV002663303] Chr8:69603605 [GRCh38]
Chr8:70515840 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.639G>A (p.Arg213=) single nucleotide variant not provided [RCV002595972] Chr8:69589046 [GRCh38]
Chr8:70501281 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.219G>T (p.Gly73=) single nucleotide variant not provided [RCV002957627] Chr8:69576016 [GRCh38]
Chr8:70488251 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.1101G>A (p.Thr367=) single nucleotide variant not provided [RCV002595403] Chr8:69603231 [GRCh38]
Chr8:70515466 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.80C>T (p.Ser27Phe) single nucleotide variant not provided [RCV002596815] Chr8:69564055 [GRCh38]
Chr8:70476290 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1493A>G (p.His498Arg) single nucleotide variant not provided [RCV002790147] Chr8:69621150 [GRCh38]
Chr8:70533385 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1630C>T (p.Arg544Cys) single nucleotide variant not provided [RCV002765995] Chr8:69623977 [GRCh38]
Chr8:70536212 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2091C>T (p.Ser697=) single nucleotide variant not provided [RCV002875773] Chr8:69628219 [GRCh38]
Chr8:70540454 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1289A>C (p.Gln430Pro) single nucleotide variant not provided [RCV003083092] Chr8:69604844 [GRCh38]
Chr8:70517079 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.861G>A (p.Met287Ile) single nucleotide variant not provided [RCV002626378] Chr8:69600729 [GRCh38]
Chr8:70512964 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2518C>G (p.Gln840Glu) single nucleotide variant not provided [RCV002890765] Chr8:69638825 [GRCh38]
Chr8:70551060 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1522G>C (p.Glu508Gln) single nucleotide variant Inborn genetic diseases [RCV002929322] Chr8:69621179 [GRCh38]
Chr8:70533414 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2129A>G (p.Asp710Gly) single nucleotide variant not provided [RCV003041678] Chr8:69629524 [GRCh38]
Chr8:70541759 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1459C>A (p.Gln487Lys) single nucleotide variant not provided [RCV002766694] Chr8:69621116 [GRCh38]
Chr8:70533351 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2077G>A (p.Glu693Lys) single nucleotide variant not provided [RCV002626880] Chr8:69628205 [GRCh38]
Chr8:70540440 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1114G>T (p.Ala372Ser) single nucleotide variant not provided [RCV002938476] Chr8:69603244 [GRCh38]
Chr8:70515479 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2586-18T>C single nucleotide variant not provided [RCV002898559] Chr8:69658487 [GRCh38]
Chr8:70570722 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2220C>G (p.Ser740Arg) single nucleotide variant not provided [RCV002988666] Chr8:69629615 [GRCh38]
Chr8:70541850 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.189G>C (p.Met63Ile) single nucleotide variant not provided [RCV003027991] Chr8:69575986 [GRCh38]
Chr8:70488221 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.412+13G>A single nucleotide variant not provided [RCV002578632] Chr8:69576222 [GRCh38]
Chr8:70488457 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.272G>A (p.Arg91Gln) single nucleotide variant Inborn genetic diseases [RCV002935428] Chr8:69576069 [GRCh38]
Chr8:70488304 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1440T>C (p.Ser480=) single nucleotide variant not provided [RCV002651091] Chr8:69621097 [GRCh38]
Chr8:70533332 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1415G>A (p.Arg472Gln) single nucleotide variant not provided [RCV002937766] Chr8:69621072 [GRCh38]
Chr8:70533307 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1887G>A (p.Glu629=) single nucleotide variant not provided [RCV003046243] Chr8:69627246 [GRCh38]
Chr8:70539481 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2026A>G (p.Ser676Gly) single nucleotide variant not provided [RCV002715718] Chr8:69627850 [GRCh38]
Chr8:70540085 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.5A>G (p.Lys2Arg) single nucleotide variant not provided [RCV002579906] Chr8:69563980 [GRCh38]
Chr8:70476215 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.960T>C (p.His320=) single nucleotide variant not provided [RCV002649770] Chr8:69601728 [GRCh38]
Chr8:70513963 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.784C>A (p.Gln262Lys) single nucleotide variant not provided [RCV003048645] Chr8:69600652 [GRCh38]
Chr8:70512887 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.885+18C>T single nucleotide variant not provided [RCV002672104] Chr8:69600771 [GRCh38]
Chr8:70513006 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2534C>G (p.Pro845Arg) single nucleotide variant not provided [RCV002599025] Chr8:69638841 [GRCh38]
Chr8:70551076 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.235A>G (p.Asn79Asp) single nucleotide variant not provided [RCV002810925] Chr8:69576032 [GRCh38]
Chr8:70488267 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.56G>A (p.Gly19Glu) single nucleotide variant not provided [RCV002671771] Chr8:69564031 [GRCh38]
Chr8:70476266 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1812C>T (p.Asn604=) single nucleotide variant not provided [RCV002602271] Chr8:69624159 [GRCh38]
Chr8:70536394 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1813G>A (p.Ala605Thr) single nucleotide variant Inborn genetic diseases [RCV002579295]|not provided [RCV002579296] Chr8:69624160 [GRCh38]
Chr8:70536395 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.672C>T (p.Pro224=) single nucleotide variant not provided [RCV002922912] Chr8:69589079 [GRCh38]
Chr8:70501314 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2284C>T (p.Leu762=) single nucleotide variant not provided [RCV002943889] Chr8:69629679 [GRCh38]
Chr8:70541914 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.565-12T>C single nucleotide variant not provided [RCV002582935] Chr8:69588960 [GRCh38]
Chr8:70501195 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2585+17_2585+19del deletion not provided [RCV002635786] Chr8:69640856..69640858 [GRCh38]
Chr8:70553091..70553093 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1816G>A (p.Val606Met) single nucleotide variant not provided [RCV003067472] Chr8:69624163 [GRCh38]
Chr8:70536398 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1215A>T (p.Lys405Asn) single nucleotide variant not provided [RCV002943416] Chr8:69603624 [GRCh38]
Chr8:70515859 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.631C>T (p.Pro211Ser) single nucleotide variant not provided [RCV002586567] Chr8:69589038 [GRCh38]
Chr8:70501273 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.599T>G (p.Ile200Ser) single nucleotide variant not provided [RCV003052292] Chr8:69589006 [GRCh38]
Chr8:70501241 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.2585+19T>C single nucleotide variant not provided [RCV002608410] Chr8:69640860 [GRCh38]
Chr8:70553095 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.21T>C (p.Ala7=) single nucleotide variant not provided [RCV002588003] Chr8:69563996 [GRCh38]
Chr8:70476231 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.789C>T (p.Tyr263=) single nucleotide variant not provided [RCV002725668] Chr8:69600657 [GRCh38]
Chr8:70512892 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.453C>T (p.Tyr151=) single nucleotide variant not provided [RCV002943997] Chr8:69586397 [GRCh38]
Chr8:70498632 [GRCh37]
Chr8:8q13.2
likely benign
NM_001128205.2(SULF1):c.2108+10T>C single nucleotide variant not provided [RCV002613035] Chr8:69628246 [GRCh38]
Chr8:70540481 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1449C>T (p.Leu483=) single nucleotide variant not provided [RCV002582740] Chr8:69621106 [GRCh38]
Chr8:70533341 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1190+15C>T single nucleotide variant not provided [RCV002590116] Chr8:69603335 [GRCh38]
Chr8:70515570 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.2493G>A (p.Glu831=) single nucleotide variant not provided [RCV002608903] Chr8:69638800 [GRCh38]
Chr8:70551035 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.470G>C (p.Arg157Pro) single nucleotide variant not provided [RCV002590207] Chr8:69586414 [GRCh38]
Chr8:70498649 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1211C>T (p.Ala404Val) single nucleotide variant Inborn genetic diseases [RCV003186248] Chr8:69603620 [GRCh38]
Chr8:70515855 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1844C>G (p.Thr615Arg) single nucleotide variant Inborn genetic diseases [RCV003219415] Chr8:69624191 [GRCh38]
Chr8:70536426 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1109A>G (p.Asp370Gly) single nucleotide variant Inborn genetic diseases [RCV003206445] Chr8:69603239 [GRCh38]
Chr8:70515474 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.11C>T (p.Ser4Phe) single nucleotide variant Inborn genetic diseases [RCV003213004] Chr8:69563986 [GRCh38]
Chr8:70476221 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.559G>A (p.Ala187Thr) single nucleotide variant Inborn genetic diseases [RCV003195942] Chr8:69586503 [GRCh38]
Chr8:70498738 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1861C>G (p.Leu621Val) single nucleotide variant Inborn genetic diseases [RCV003343342] Chr8:69627220 [GRCh38]
Chr8:70539455 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1327G>T (p.Glu443Ter) single nucleotide variant not provided [RCV003872939] Chr8:69604882 [GRCh38]
Chr8:70517117 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.335G>A (p.Cys112Tyr) single nucleotide variant not provided [RCV003543345] Chr8:69576132 [GRCh38]
Chr8:70488367 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.1247+20G>T single nucleotide variant not provided [RCV003571153] Chr8:69603676 [GRCh38]
Chr8:70515911 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1609T>C (p.Phe537Leu) single nucleotide variant not provided [RCV003435524] Chr8:69623956 [GRCh38]
Chr8:70536191 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1594+9C>T single nucleotide variant not provided [RCV003876536] Chr8:69621260 [GRCh38]
Chr8:70533495 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.643G>C (p.Val215Leu) single nucleotide variant not provided [RCV003690139] Chr8:69589050 [GRCh38]
Chr8:70501285 [GRCh37]
Chr8:8q13.2
uncertain significance
NM_001128205.2(SULF1):c.2338C>T (p.Arg780Cys) single nucleotide variant not provided [RCV003687724] Chr8:69638555 [GRCh38]
Chr8:70550790 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.763A>G (p.Met255Val) single nucleotide variant not provided [RCV003714111] Chr8:69600631 [GRCh38]
Chr8:70512866 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2551+15A>C single nucleotide variant not provided [RCV003715780] Chr8:69638873 [GRCh38]
Chr8:70551108 [GRCh37]
Chr8:8q13.3
likely benign
NM_001128205.2(SULF1):c.1820G>A (p.Gly607Asp) single nucleotide variant not provided [RCV003878426] Chr8:69624167 [GRCh38]
Chr8:70536402 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.1459C>G (p.Gln487Glu) single nucleotide variant not provided [RCV003545886] Chr8:69621116 [GRCh38]
Chr8:70533351 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_001128205.2(SULF1):c.2551+9A>G single nucleotide variant not provided [RCV003716293] Chr8:69638867 [GRCh38]
Chr8:70551102 [GRCh37]
Chr8:8q13.3
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR516A2hsa-miR-516a-3pOncomiRDBexternal_infoNANA21169410
MIR516A2hsa-miR-516a-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI21169410

Predicted Target Of
Summary Value
Count of predictions:5845
Count of miRNA genes:1158
Interacting mature miRNAs:1478
Transcripts:ENST00000260128, ENST00000402687, ENST00000419716, ENST00000458141, ENST00000521946, ENST00000524731, ENST00000525061, ENST00000525112, ENST00000525999, ENST00000526654, ENST00000526808, ENST00000528146, ENST00000528286, ENST00000528783, ENST00000529041, ENST00000529134, ENST00000530674, ENST00000531064, ENST00000531512, ENST00000532015, ENST00000534088, ENST00000534179
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
RH98994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,572,932 - 70,573,114UniSTSGRCh37
Build 36870,735,486 - 70,735,668RGDNCBI36
Celera866,570,664 - 66,570,846RGD
Cytogenetic Map8q13.1UniSTS
HuRef866,067,044 - 66,067,226UniSTS
GeneMap99-GB4 RH Map8369.56UniSTS
SHGC-83020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,499,526 - 70,499,721UniSTSGRCh37
Build 36870,662,080 - 70,662,275RGDNCBI36
Celera866,497,227 - 66,497,422RGD
Cytogenetic Map8q13.1UniSTS
HuRef865,993,962 - 65,994,157UniSTS
TNG Radiation Hybrid Map835514.0UniSTS
SHGC-81126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,499,336 - 70,499,650UniSTSGRCh37
Build 36870,661,890 - 70,662,204RGDNCBI36
Celera866,497,037 - 66,497,351RGD
Cytogenetic Map8q13.1UniSTS
HuRef865,993,772 - 65,994,086UniSTS
TNG Radiation Hybrid Map835503.0UniSTS
RH121420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,493,297 - 70,493,579UniSTSGRCh37
Build 36870,655,851 - 70,656,133RGDNCBI36
Celera866,490,999 - 66,491,281RGD
Cytogenetic Map8q13.1UniSTS
HuRef865,987,735 - 65,988,017UniSTS
TNG Radiation Hybrid Map835525.0UniSTS
D8S1059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,405,633 - 70,405,817UniSTSGRCh37
Build 36870,568,187 - 70,568,371RGDNCBI36
Celera866,403,331 - 66,403,515RGD
Cytogenetic Map8q13.1UniSTS
HuRef865,900,069 - 65,900,249UniSTS
SHGC-154482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,410,766 - 70,411,061UniSTSGRCh37
Build 36870,573,320 - 70,573,615RGDNCBI36
Celera866,408,464 - 66,408,758RGD
Cytogenetic Map8q13.1UniSTS
HuRef865,905,200 - 65,905,495UniSTS
TNG Radiation Hybrid Map835464.0UniSTS
RH47887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,572,127 - 70,572,248UniSTSGRCh37
Build 36870,734,681 - 70,734,802RGDNCBI36
Celera866,569,859 - 66,569,980RGD
Cytogenetic Map8q13.1UniSTS
HuRef866,066,239 - 66,066,360UniSTS
GeneMap99-GB4 RH Map8369.56UniSTS
NCBI RH Map8833.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 1
Medium 1552 1518 919 70 162 49 1736 767 817 170 850 1051 23 851 1245
Low 749 738 624 403 400 262 2451 1296 2445 209 542 458 143 1 353 1431 2
Below cutoff 71 691 160 136 872 139 149 126 441 21 35 47 7 112 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_132437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF545571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY101175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN426828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA234578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA654454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA745191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB040026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB288568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000260128   ⟹   ENSP00000260128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,466,624 - 69,660,912 (+)Ensembl
RefSeq Acc Id: ENST00000402687   ⟹   ENSP00000385704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,492,847 - 69,660,912 (+)Ensembl
RefSeq Acc Id: ENST00000419716   ⟹   ENSP00000390315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,492,793 - 69,660,055 (+)Ensembl
RefSeq Acc Id: ENST00000458141   ⟹   ENSP00000403040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,466,624 - 69,660,915 (+)Ensembl
RefSeq Acc Id: ENST00000521946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,592,910 - 69,659,408 (+)Ensembl
RefSeq Acc Id: ENST00000524731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,625,954 - 69,629,571 (+)Ensembl
RefSeq Acc Id: ENST00000525061   ⟹   ENSP00000436608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,466,624 - 69,564,064 (+)Ensembl
RefSeq Acc Id: ENST00000525112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,562,813 - 69,563,877 (+)Ensembl
RefSeq Acc Id: ENST00000525999   ⟹   ENSP00000431753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,563,862 - 69,586,460 (+)Ensembl
RefSeq Acc Id: ENST00000526654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,638,811 - 69,641,147 (+)Ensembl
RefSeq Acc Id: ENST00000526808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,564,096 - 69,586,508 (+)Ensembl
RefSeq Acc Id: ENST00000528146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,592,939 - 69,597,547 (+)Ensembl
RefSeq Acc Id: ENST00000528286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,466,817 - 69,495,850 (+)Ensembl
RefSeq Acc Id: ENST00000528783   ⟹   ENSP00000436949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,563,442 - 69,576,027 (+)Ensembl
RefSeq Acc Id: ENST00000529041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,492,832 - 69,563,697 (+)Ensembl
RefSeq Acc Id: ENST00000529134   ⟹   ENSP00000432178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,466,987 - 69,576,051 (+)Ensembl
RefSeq Acc Id: ENST00000530674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,637,604 - 69,659,407 (+)Ensembl
RefSeq Acc Id: ENST00000531064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,564,048 - 69,589,120 (+)Ensembl
RefSeq Acc Id: ENST00000531512   ⟹   ENSP00000434128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,627,804 - 69,660,051 (+)Ensembl
RefSeq Acc Id: ENST00000532015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,638,691 - 69,658,892 (+)Ensembl
RefSeq Acc Id: ENST00000534088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,592,884 - 69,597,592 (+)Ensembl
RefSeq Acc Id: ENST00000534179   ⟹   ENSP00000431308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,562,808 - 69,564,144 (+)Ensembl
RefSeq Acc Id: ENST00000616868   ⟹   ENSP00000480454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl869,492,793 - 69,642,296 (+)Ensembl
RefSeq Acc Id: NM_001128204   ⟹   NP_001121676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
GRCh37870,378,859 - 70,573,147 (+)ENTREZGENE
HuRef865,873,300 - 66,067,259 (+)ENTREZGENE
CHM1_1870,434,286 - 70,628,552 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128205   ⟹   NP_001121677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
GRCh37870,378,859 - 70,573,147 (+)ENTREZGENE
HuRef865,873,300 - 66,067,259 (+)ENTREZGENE
CHM1_1870,460,465 - 70,628,552 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128206   ⟹   NP_001121678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
GRCh37870,378,859 - 70,573,147 (+)ENTREZGENE
HuRef865,873,300 - 66,067,259 (+)ENTREZGENE
CHM1_1870,460,465 - 70,628,552 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001412828   ⟹   NP_001399757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412829   ⟹   NP_001399758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412830   ⟹   NP_001399759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412831   ⟹   NP_001399760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412832   ⟹   NP_001399761
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412833   ⟹   NP_001399762
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,643,576 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,073,246 (+)NCBI
RefSeq Acc Id: NM_001412834   ⟹   NP_001399763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,643,576 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,073,246 (+)NCBI
RefSeq Acc Id: NM_001412835   ⟹   NP_001399764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412836   ⟹   NP_001399765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412837   ⟹   NP_001399766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412838   ⟹   NP_001399767
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412839   ⟹   NP_001399768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412840   ⟹   NP_001399769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412841   ⟹   NP_001399770
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412842   ⟹   NP_001399771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412844   ⟹   NP_001399773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412845   ⟹   NP_001399774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412846   ⟹   NP_001399775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412847   ⟹   NP_001399776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,604,195 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,034,021 (+)NCBI
RefSeq Acc Id: NM_001412848   ⟹   NP_001399777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,604,195 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,034,021 (+)NCBI
RefSeq Acc Id: NM_001412849   ⟹   NP_001399778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,604,195 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,034,021 (+)NCBI
RefSeq Acc Id: NM_001412850   ⟹   NP_001399779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_001412851   ⟹   NP_001399780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NM_015170   ⟹   NP_055985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
GRCh37870,378,859 - 70,573,147 (+)NCBI
Build 36870,541,427 - 70,735,701 (+)NCBI Archive
HuRef865,873,300 - 66,067,259 (+)ENTREZGENE
CHM1_1870,434,286 - 70,628,552 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NR_132437
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,592,900 - 69,660,912 (+)NCBI
CHM1_1870,560,569 - 70,628,552 (+)NCBI
T2T-CHM13v2.0870,022,730 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156414
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156415
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,922,670 - 70,090,566 (+)NCBI
Sequence:
RefSeq Acc Id: NR_182050
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NR_182051
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NR_182053
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,896,604 - 70,090,566 (+)NCBI
RefSeq Acc Id: NR_182055
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,563,838 - 69,660,912 (+)NCBI
T2T-CHM13v2.0869,993,669 - 70,090,566 (+)NCBI
RefSeq Acc Id: XM_006716441   ⟹   XP_006716504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,592,900 - 69,660,912 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716442   ⟹   XP_006716505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,592,900 - 69,660,912 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054360172   ⟹   XP_054216147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0870,022,730 - 70,090,566 (+)NCBI
RefSeq Acc Id: XM_054360173   ⟹   XP_054216148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0869,922,670 - 70,070,517 (+)NCBI
RefSeq Acc Id: XM_054360174   ⟹   XP_054216149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0869,896,604 - 70,070,517 (+)NCBI
RefSeq Acc Id: XM_054360175   ⟹   XP_054216150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0869,922,670 - 70,070,517 (+)NCBI
RefSeq Acc Id: XM_054360176   ⟹   XP_054216151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0869,896,604 - 70,070,517 (+)NCBI
RefSeq Acc Id: XM_054360177   ⟹   XP_054216152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0869,922,670 - 70,068,525 (+)NCBI
RefSeq Acc Id: XM_054360178   ⟹   XP_054216153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0870,022,730 - 70,090,566 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001121676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399757 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399758 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399759 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399760 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399761 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399762 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399763 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399764 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399765 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399766 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399767 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399768 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399769 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399770 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399771 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399776 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399777 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399778 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399779 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399780 (Get FASTA)   NCBI Sequence Viewer  
  NP_055985 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716504 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716505 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216153 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12997 (Get FASTA)   NCBI Sequence Viewer  
  AAH68565 (Get FASTA)   NCBI Sequence Viewer  
  AAM76860 (Get FASTA)   NCBI Sequence Viewer  
  AAO33315 (Get FASTA)   NCBI Sequence Viewer  
  BAA83029 (Get FASTA)   NCBI Sequence Viewer  
  BAC11258 (Get FASTA)   NCBI Sequence Viewer  
  CAB66706 (Get FASTA)   NCBI Sequence Viewer  
  CAE11871 (Get FASTA)   NCBI Sequence Viewer  
  EAW86953 (Get FASTA)   NCBI Sequence Viewer  
  EAW86954 (Get FASTA)   NCBI Sequence Viewer  
  EAW86955 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260128
  ENSP00000260128.4
  ENSP00000385704
  ENSP00000385704.4
  ENSP00000390315
  ENSP00000390315.3
  ENSP00000403040
  ENSP00000403040.2
  ENSP00000431308.1
  ENSP00000431753.1
  ENSP00000432178.1
  ENSP00000434128.1
  ENSP00000436608.1
  ENSP00000436949.1
  ENSP00000480454
  ENSP00000480454.1
GenBank Protein Q8IWU6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055985   ⟸   NM_015170
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NCA2 (UniProtKB/Swiss-Prot),   Q86YV8 (UniProtKB/Swiss-Prot),   Q9UPS5 (UniProtKB/Swiss-Prot),   Q8IWU6 (UniProtKB/Swiss-Prot),   Q7Z2W2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121676   ⟸   NM_001128204
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NCA2 (UniProtKB/Swiss-Prot),   Q86YV8 (UniProtKB/Swiss-Prot),   Q9UPS5 (UniProtKB/Swiss-Prot),   Q8IWU6 (UniProtKB/Swiss-Prot),   Q7Z2W2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121677   ⟸   NM_001128205
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NCA2 (UniProtKB/Swiss-Prot),   Q86YV8 (UniProtKB/Swiss-Prot),   Q9UPS5 (UniProtKB/Swiss-Prot),   Q8IWU6 (UniProtKB/Swiss-Prot),   Q7Z2W2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121678   ⟸   NM_001128206
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NCA2 (UniProtKB/Swiss-Prot),   Q86YV8 (UniProtKB/Swiss-Prot),   Q9UPS5 (UniProtKB/Swiss-Prot),   Q8IWU6 (UniProtKB/Swiss-Prot),   Q7Z2W2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716505   ⟸   XM_006716442
- Peptide Label: isoform X2
- UniProtKB: Q6NUJ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716504   ⟸   XM_006716441
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000434128   ⟸   ENST00000531512
RefSeq Acc Id: ENSP00000431308   ⟸   ENST00000534179
RefSeq Acc Id: ENSP00000385704   ⟸   ENST00000402687
RefSeq Acc Id: ENSP00000390315   ⟸   ENST00000419716
RefSeq Acc Id: ENSP00000403040   ⟸   ENST00000458141
RefSeq Acc Id: ENSP00000480454   ⟸   ENST00000616868
RefSeq Acc Id: ENSP00000260128   ⟸   ENST00000260128
RefSeq Acc Id: ENSP00000431753   ⟸   ENST00000525999
RefSeq Acc Id: ENSP00000436608   ⟸   ENST00000525061
RefSeq Acc Id: ENSP00000436949   ⟸   ENST00000528783
RefSeq Acc Id: ENSP00000432178   ⟸   ENST00000529134
RefSeq Acc Id: NP_001399764   ⟸   NM_001412835
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8NCA2 (UniProtKB/Swiss-Prot),   Q8IWU6 (UniProtKB/Swiss-Prot),   Q86YV8 (UniProtKB/Swiss-Prot),   Q9UPS5 (UniProtKB/Swiss-Prot),   Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399757   ⟸   NM_001412828
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001399780   ⟸   NM_001412851
- Peptide Label: isoform 7 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399765   ⟸   NM_001412836
- Peptide Label: isoform 5 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399768   ⟸   NM_001412839
- Peptide Label: isoform 6 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399774   ⟸   NM_001412845
- Peptide Label: isoform 9
- UniProtKB: A0A087WWR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399775   ⟸   NM_001412846
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001399770   ⟸   NM_001412841
- Peptide Label: isoform 7
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399758   ⟸   NM_001412829
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001399779   ⟸   NM_001412850
- Peptide Label: isoform 7 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399766   ⟸   NM_001412837
- Peptide Label: isoform 5 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399767   ⟸   NM_001412838
- Peptide Label: isoform 6 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399761   ⟸   NM_001412832
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001399773   ⟸   NM_001412844
- Peptide Label: isoform 9
- UniProtKB: A0A087WWR8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399762   ⟸   NM_001412833
- Peptide Label: isoform 4 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399763   ⟸   NM_001412834
- Peptide Label: isoform 4 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399778   ⟸   NM_001412849
- Peptide Label: isoform 11 precursor
RefSeq Acc Id: NP_001399759   ⟸   NM_001412830
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001399771   ⟸   NM_001412842
- Peptide Label: isoform 7
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399760   ⟸   NM_001412831
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001399769   ⟸   NM_001412840
- Peptide Label: isoform 6 precursor
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001399777   ⟸   NM_001412848
- Peptide Label: isoform 11 precursor
RefSeq Acc Id: NP_001399776   ⟸   NM_001412847
- Peptide Label: isoform 11 precursor
RefSeq Acc Id: XP_054216149   ⟸   XM_054360174
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216151   ⟸   XM_054360176
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216148   ⟸   XM_054360173
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216150   ⟸   XM_054360175
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216152   ⟸   XM_054360177
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216153   ⟸   XM_054360178
- Peptide Label: isoform X2
- UniProtKB: Q6NUJ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216147   ⟸   XM_054360172
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWU6-F1-model_v2 AlphaFold Q8IWU6 1-871 view protein structure

Promoters
RGD ID:7213473
Promoter ID:EPDNEW_H12482
Type:initiation region
Name:SULF1_3
Description:sulfatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12481  EPDNEW_H12483  EPDNEW_H12484  EPDNEW_H12485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,624 - 69,466,684EPDNEW
RGD ID:7213475
Promoter ID:EPDNEW_H12483
Type:initiation region
Name:SULF1_2
Description:sulfatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12481  EPDNEW_H12482  EPDNEW_H12484  EPDNEW_H12485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,466,781 - 69,466,841EPDNEW
RGD ID:7213477
Promoter ID:EPDNEW_H12484
Type:initiation region
Name:SULF1_4
Description:sulfatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12481  EPDNEW_H12482  EPDNEW_H12483  EPDNEW_H12485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,725 - 69,492,785EPDNEW
RGD ID:7213479
Promoter ID:EPDNEW_H12485
Type:initiation region
Name:SULF1_1
Description:sulfatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12481  EPDNEW_H12482  EPDNEW_H12483  EPDNEW_H12484  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38869,492,847 - 69,492,907EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20391 AgrOrtholog
COSMIC SULF1 COSMIC
Ensembl Genes ENSG00000137573 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260128 ENTREZGENE
  ENST00000260128.8 UniProtKB/Swiss-Prot
  ENST00000402687 ENTREZGENE
  ENST00000402687.9 UniProtKB/Swiss-Prot
  ENST00000419716 ENTREZGENE
  ENST00000419716.7 UniProtKB/Swiss-Prot
  ENST00000458141 ENTREZGENE
  ENST00000458141.6 UniProtKB/Swiss-Prot
  ENST00000525061.5 UniProtKB/TrEMBL
  ENST00000525999.5 UniProtKB/TrEMBL
  ENST00000528783.5 UniProtKB/TrEMBL
  ENST00000529134.5 UniProtKB/TrEMBL
  ENST00000531512.5 UniProtKB/TrEMBL
  ENST00000534179.5 UniProtKB/TrEMBL
  ENST00000616868 ENTREZGENE
  ENST00000616868.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137573 GTEx
HGNC ID HGNC:20391 ENTREZGENE
Human Proteome Map SULF1 Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Extracellular_sulfatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Extracellular_sulfatase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23213 UniProtKB/Swiss-Prot
NCBI Gene 23213 ENTREZGENE
OMIM 610012 OMIM
PANTHER EXTRACELLULAR SULFATASE SULF-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-ACETYLGLUCOSAMINE-6-SULFATASE FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3740 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861022 PharmGKB
PIRSF Sulf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SULFATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWR8 ENTREZGENE, UniProtKB/TrEMBL
  E9PI06_HUMAN UniProtKB/TrEMBL
  E9PJL8_HUMAN UniProtKB/TrEMBL
  E9PLS5_HUMAN UniProtKB/TrEMBL
  E9PPQ3_HUMAN UniProtKB/TrEMBL
  E9PS14_HUMAN UniProtKB/TrEMBL
  H0YDR1_HUMAN UniProtKB/TrEMBL
  Q6NUJ9 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z2W2 ENTREZGENE, UniProtKB/TrEMBL
  Q86YV8 ENTREZGENE
  Q8IWU6 ENTREZGENE
  Q8NCA2 ENTREZGENE
  Q96E28_HUMAN UniProtKB/TrEMBL
  Q9UPS5 ENTREZGENE
  SULF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q86YV8 UniProtKB/Swiss-Prot
  Q8NCA2 UniProtKB/Swiss-Prot
  Q9UPS5 UniProtKB/Swiss-Prot