SLURP1 (secreted LY6/PLAUR domain containing 1) - Rat Genome Database

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Gene: SLURP1 (secreted LY6/PLAUR domain containing 1) Homo sapiens
Analyze
Symbol: SLURP1
Name: secreted LY6/PLAUR domain containing 1
RGD ID: 1346067
HGNC Page HGNC
Description: Exhibits acetylcholine receptor activator activity. Involved in negative regulation of cell migration; negative regulation of cell population proliferation; and urokinase plasminogen activator signaling pathway. Localizes to extracellular space. Implicated in palmoplantar keratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anti-neoplastic urinary protein; ANUP; ARS; ARS(component B)-81/S; ArsB; LY6-MT; LY6LS; lymphocyte antigen 6-like secreted; MDM; secreted Ly-6/uPAR-related protein 1; secreted Ly6/uPAR related protein 1; SLURP-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh38.p13 Ensembl8142,740,949 - 142,742,406 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,740,949 - 142,742,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,822,367 - 143,823,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,819,364 - 143,820,831 (-)NCBINCBI36hg18NCBI36
Build 348143,819,363 - 143,820,831NCBI
Celera8140,133,424 - 140,134,891 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,075,028 - 139,076,495 (-)NCBIHuRef
CHM1_18143,862,635 - 143,864,102 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8742060   PMID:9887370   PMID:10211827   PMID:12477932   PMID:12483299   PMID:12603845   PMID:12787122   PMID:14506129   PMID:14674887   PMID:14721776   PMID:14756676   PMID:15489334  
PMID:15909066   PMID:16354194   PMID:17643396   PMID:18764860   PMID:19692209   PMID:20237496   PMID:20337899   PMID:20621062   PMID:20660165   PMID:20854438   PMID:21873635   PMID:22369755  
PMID:23290002   PMID:23376485   PMID:23533145   PMID:23876317   PMID:24093092   PMID:24604124   PMID:24738704   PMID:24877120   PMID:25168896   PMID:25919322   PMID:26254200   PMID:26474319  
PMID:26905431   PMID:27098205   PMID:27705803   PMID:29023701   PMID:29192197   PMID:29226984   PMID:29231248   PMID:29505672   PMID:30395407   PMID:30879770   PMID:31387745   PMID:31443639  
PMID:32894468   PMID:33019770  


Genomics

Comparative Map Data
SLURP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,740,949 - 142,742,406 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,740,949 - 142,742,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,822,367 - 143,823,824 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,819,364 - 143,820,831 (-)NCBINCBI36hg18NCBI36
Build 348143,819,363 - 143,820,831NCBI
Celera8140,133,424 - 140,134,891 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,075,028 - 139,076,495 (-)NCBIHuRef
CHM1_18143,862,635 - 143,864,102 (-)NCBICHM1_1
Slurp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,598,493 - 74,599,872 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,596,167 - 74,599,883 (-)Ensembl
GRCm381574,726,644 - 74,728,023 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,724,318 - 74,728,034 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,557,074 - 74,558,456 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,553,899 - 74,555,281 (-)NCBImm8
Celera1576,231,574 - 76,232,956 (-)NCBICelera
Cytogenetic Map15D3NCBI
Slurp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,611,949 - 106,613,365 (-)NCBI
Rnor_6.0 Ensembl7115,961,731 - 115,963,046 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07115,961,655 - 115,963,071 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,867,044 - 115,868,460 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,840,681 - 112,842,097 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,875,040 - 112,876,304 (-)NCBI
Celera7103,013,098 - 103,014,514 (-)NCBICelera
Cytogenetic Map7q34NCBI
Slurp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,447,437 - 1,449,299 (-)EnsemblChiLan1.0
ChiLan1.0 EnsemblNW_0049554541,440,438 - 1,441,985 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,440,534 - 1,449,123 (-)NCBIChiLan1.0ChiLan1.0
SLURP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,496,754 - 142,498,207 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,496,754 - 142,498,207 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,452,550 - 139,454,005 (-)NCBIMhudiblu_PPA_v0panPan3
SLURP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,789,738 - 36,791,013 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1336,789,721 - 36,796,831 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,663,297 - 36,666,752 (-)NCBI
ROS_Cfam_1.01337,190,718 - 37,194,174 (-)NCBI
UMICH_Zoey_3.11336,909,433 - 36,912,888 (-)NCBI
UNSW_CanFamBas_1.01336,999,060 - 37,002,515 (-)NCBI
UU_Cfam_GSD_1.01337,421,162 - 37,424,617 (-)NCBI
Slurp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,706,572 - 1,708,873 (+)NCBI
SpeTri2.0NW_0049364709,132,641 - 9,134,868 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLURP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,989,380 - 136,995,279 (-)NCBI
ChlSab1.1 Ensembl8136,993,754 - 136,994,996 (-)Ensembl
Slurp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,901,531 - 13,910,505 (+)NCBI

Position Markers
D8S1751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,748,771 - 143,748,927UniSTSGRCh37
Build 368143,745,773 - 143,745,929RGDNCBI36
Celera8140,060,738 - 140,060,893RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,001,937 - 139,002,089UniSTS
Marshfield Genetic Map8165.93RGD
Marshfield Genetic Map8165.93UniSTS
Genethon Genetic Map8165.0UniSTS
TNG Radiation Hybrid Map871041.0UniSTS
RH70955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,822,391 - 143,822,548UniSTSGRCh37
Build 368143,819,393 - 143,819,550RGDNCBI36
Celera8140,133,453 - 140,133,610RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,075,057 - 139,075,214UniSTS
GeneMap99-GB4 RH Map8549.18UniSTS
UniSTS:483339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,822,501 - 143,823,826UniSTSGRCh37
Celera8140,133,563 - 140,134,888UniSTS
HuRef8139,075,167 - 139,076,492UniSTS
UniSTS:480733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,822,511 - 143,823,829UniSTSGRCh37
Celera8140,133,573 - 140,134,891UniSTS
HuRef8139,075,177 - 139,076,495UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:367
Count of miRNA genes:323
Interacting mature miRNAs:354
Transcripts:ENST00000246515
Prediction methods: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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 2 371 1 8 2 305
Medium 46 6 4 43 2 1 934 43 9 2 116 7 44 7 399
Low 676 611 320 50 219 19 708 523 472 29 405 332 35 305 505 1 1
Below cutoff 1205 1639 842 268 726 193 1539 1180 1962 110 589 717 79 657 1142 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000246515   ⟹   ENSP00000246515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,740,949 - 142,742,406 (-)Ensembl
RefSeq Acc Id: NM_020427   ⟹   NP_065160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,740,949 - 142,742,406 (-)NCBI
GRCh378143,822,362 - 143,823,829 (-)ENTREZGENE
Build 368143,819,364 - 143,820,831 (-)NCBI Archive
HuRef8139,075,028 - 139,076,495 (-)ENTREZGENE
CHM1_18143,862,635 - 143,864,102 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065160   ⟸   NM_020427
- Peptide Label: precursor
- UniProtKB: P55000 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000246515   ⟸   ENST00000246515
Protein Domains
UPAR/Ly6

Promoters
RGD ID:7214295
Promoter ID:EPDNEW_H12894
Type:initiation region
Name:SLURP1_1
Description:secreted LY6/PLAUR domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,742,406 - 142,742,466EPDNEW
RGD ID:6807037
Promoter ID:HG_KWN:62235
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_020427
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,820,826 - 143,821,427 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020427.3(SLURP1):c.82del (p.Cys28fs) deletion Acroerythrokeratoderma [RCV000004862]|not provided [RCV000657252] Chr8:142741899 [GRCh38]
Chr8:143823317 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.178+1G>A single nucleotide variant Acroerythrokeratoderma [RCV000004863] Chr8:142741802 [GRCh38]
Chr8:143823220 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu) single nucleotide variant Acroerythrokeratoderma [RCV000004867] Chr8:142742385 [GRCh38]
Chr8:143823803 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg) single nucleotide variant Acroerythrokeratoderma [RCV000004869] Chr8:142741226 [GRCh38]
Chr8:143822644 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr) single nucleotide variant Acroerythrokeratoderma [RCV000004870] Chr8:142741159 [GRCh38]
Chr8:143822577 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter) single nucleotide variant Acroerythrokeratoderma [RCV000004864] Chr8:142741169 [GRCh38]
Chr8:143822587 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) single nucleotide variant Acroerythrokeratoderma [RCV000004865] Chr8:142741199 [GRCh38]
Chr8:143822617 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg) single nucleotide variant Acroerythrokeratoderma [RCV000004866] Chr8:142741199 [GRCh38]
Chr8:143822617 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg) single nucleotide variant Acroerythrokeratoderma [RCV000004868] Chr8:142742343 [GRCh38]
Chr8:143823761 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 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
NM_020427.3(SLURP1):c.10C>T (p.Arg4Cys) single nucleotide variant Acroerythrokeratoderma [RCV001159722] Chr8:142742376 [GRCh38]
Chr8:143823794 [GRCh37]
Chr8:143820796 [NCBI36]
Chr8:8q24.3
uncertain significance|not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143762893-143867731)x3 copy number gain See cases [RCV000239918] Chr8:143762893..143867731 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.261C>T (p.Ala87=) single nucleotide variant Acroerythrokeratoderma [RCV000348797]|not provided [RCV000962361] Chr8:142741194 [GRCh38]
Chr8:143822612 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_020427.3(SLURP1):c.*143G>A single nucleotide variant Acroerythrokeratoderma [RCV000399832] Chr8:142741000 [GRCh38]
Chr8:143822418 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_020427.3(SLURP1):c.179-3C>T single nucleotide variant Acroerythrokeratoderma [RCV000401869] Chr8:142741279 [GRCh38]
Chr8:143822697 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.-7C>T single nucleotide variant Acroerythrokeratoderma [RCV000363306] Chr8:142742392 [GRCh38]
Chr8:143823810 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) single nucleotide variant Acroerythrokeratoderma [RCV001164635]|not provided [RCV000598336] Chr8:142741145 [GRCh38]
Chr8:143822563 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_020427.3(SLURP1):c.*14G>A single nucleotide variant Acroerythrokeratoderma [RCV000312545] Chr8:142741129 [GRCh38]
Chr8:143822547 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_020427.3(SLURP1):c.240_246delinsAG (p.Asp81fs) indel not provided [RCV000414623] Chr8:142741209..142741215 [GRCh38]
Chr8:143822627..143822633 [GRCh37]
Chr8:8q24.3
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 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_020427.3(SLURP1):c.178G>A (p.Glu60Lys) single nucleotide variant not provided [RCV000999081] Chr8:142741803 [GRCh38]
Chr8:143823221 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_020427.3(SLURP1):c.*10G>A single nucleotide variant Acroerythrokeratoderma [RCV001164634] Chr8:142741133 [GRCh38]
Chr8:143822551 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.167C>T (p.Thr56Met) single nucleotide variant Acroerythrokeratoderma [RCV001164637] Chr8:142741814 [GRCh38]
Chr8:143823232 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3 copy number gain not provided [RCV000849655] Chr8:143786100..143964656 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_020427.3(SLURP1):c.125G>A (p.Arg42His) single nucleotide variant Acroerythrokeratoderma [RCV001159720] Chr8:142741856 [GRCh38]
Chr8:143823274 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.158C>T (p.Thr53Met) single nucleotide variant Acroerythrokeratoderma [RCV001159718] Chr8:142741823 [GRCh38]
Chr8:143823241 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.141C>T (p.Asp47=) single nucleotide variant Acroerythrokeratoderma [RCV001159719] Chr8:142741840 [GRCh38]
Chr8:143823258 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile) single nucleotide variant Acroerythrokeratoderma [RCV001159721] Chr8:142742339 [GRCh38]
Chr8:143823757 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_020427.3(SLURP1):c.202G>A (p.Val68Met) single nucleotide variant Acroerythrokeratoderma [RCV001164636] Chr8:142741253 [GRCh38]
Chr8:143822671 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_020427.3(SLURP1):c.*146G>A single nucleotide variant Acroerythrokeratoderma [RCV001162581] Chr8:142740997 [GRCh38]
Chr8:143822415 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18746 AgrOrtholog
COSMIC SLURP1 COSMIC
Ensembl Genes ENSG00000126233 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000246515 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000246515 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000126233 GTEx
HGNC ID HGNC:18746 ENTREZGENE
Human Proteome Map SLURP1 Human Proteome Map
InterPro LY6_UPA_recep-like UniProtKB/Swiss-Prot
  SLURP1 UniProtKB/Swiss-Prot
KEGG Report hsa:57152 UniProtKB/Swiss-Prot
NCBI Gene 57152 ENTREZGENE
OMIM 248300 OMIM
  606119 OMIM
PANTHER PTHR10036:SF17 UniProtKB/Swiss-Prot
Pfam UPAR_LY6 UniProtKB/Swiss-Prot
PharmGKB PA134936818 PharmGKB
UniProt P55000 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q53YJ6 UniProtKB/Swiss-Prot
  Q6PUA6 UniProtKB/Swiss-Prot
  Q92483 UniProtKB/Swiss-Prot