SUGP1 (SURP and G-patch domain containing 1) - Rat Genome Database

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Gene: SUGP1 (SURP and G-patch domain containing 1) Homo sapiens
Analyze
Symbol: SUGP1
Name: SURP and G-patch domain containing 1
RGD ID: 1321429
HGNC Page HGNC:18643
Description: Enables RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp434E2216; F23858; RBP; RNA-binding protein RBP; SF4; splicing factor 4; SURP and G patch domain containing 1; SURP and G-patch domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC090502.3   AC113367.3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,276,033 - 19,320,509 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,276,018 - 19,320,509 (-)EnsemblGRCh38hg38GRCh38
GRCh371919,386,842 - 19,431,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,248,322 - 19,292,307 (-)NCBINCBI36Build 36hg18NCBI36
Celera1919,291,389 - 19,335,381 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,951,058 - 18,994,630 (-)NCBIHuRef
CHM1_11919,388,088 - 19,432,088 (-)NCBICHM1_1
T2T-CHM13v2.01919,413,485 - 19,457,965 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IBA,IDA,IEA,TAS)
nucleus  (IEA)
spliceosomal complex  (IEA)

Molecular Function
protein binding  (IPI)
RNA binding  (HDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12176931   PMID:12226669   PMID:12477932   PMID:12594045   PMID:14702039   PMID:15057824   PMID:15489334   PMID:17332742   PMID:18029348   PMID:19060906   PMID:19656773   PMID:20686565  
PMID:20864672   PMID:21873635   PMID:21988832   PMID:22365833   PMID:22412018   PMID:22681889   PMID:22939629   PMID:23974872   PMID:24097068   PMID:24457600   PMID:25056061   PMID:25246029  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26673895   PMID:26687479   PMID:27206982   PMID:28431233   PMID:28514442   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29872149  
PMID:30196744   PMID:30415952   PMID:30585729   PMID:30737378   PMID:30890647   PMID:31076518   PMID:31182584   PMID:31474574   PMID:32332164   PMID:32513696   PMID:32694731   PMID:33001583  
PMID:33057152   PMID:33397691   PMID:33417871   PMID:33640491   PMID:33722704   PMID:33766124   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34597346   PMID:34672954  
PMID:34795231   PMID:35013218   PMID:35140242   PMID:35241646   PMID:35271311   PMID:35439318   PMID:35831314   PMID:35944360   PMID:36373674   PMID:36424410   PMID:36459648   PMID:37071664  
PMID:37689310   PMID:37805921   PMID:37827155  


Genomics

Comparative Map Data
SUGP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,276,033 - 19,320,509 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,276,018 - 19,320,509 (-)EnsemblGRCh38hg38GRCh38
GRCh371919,386,842 - 19,431,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,248,322 - 19,292,307 (-)NCBINCBI36Build 36hg18NCBI36
Celera1919,291,389 - 19,335,381 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,951,058 - 18,994,630 (-)NCBIHuRef
CHM1_11919,388,088 - 19,432,088 (-)NCBICHM1_1
T2T-CHM13v2.01919,413,485 - 19,457,965 (-)NCBIT2T-CHM13v2.0
Sugp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,495,435 - 70,524,997 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,495,463 - 70,524,997 (+)EnsemblGRCm39 Ensembl
GRCm38870,042,769 - 70,072,347 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,042,813 - 70,072,347 (+)EnsemblGRCm38mm10GRCm38
MGSCv37872,566,712 - 72,595,852 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36872,971,802 - 73,000,942 (+)NCBIMGSCv36mm8
Celera872,603,099 - 72,632,001 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Sugp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81619,386,588 - 19,417,460 (-)NCBIGRCr8
mRatBN7.21619,352,659 - 19,383,533 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1619,351,793 - 19,383,756 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1619,392,601 - 19,423,733 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,524,523 - 20,555,456 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01619,445,574 - 19,476,707 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01621,100,923 - 21,131,795 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1621,100,924 - 21,131,795 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01621,016,310 - 21,047,301 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01620,950,430 - 20,985,149 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,835,921 - 19,866,795 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11619,835,919 - 19,866,793 (-)NCBI
Celera1619,541,347 - 19,572,611 (-)NCBICelera
Cytogenetic Map16p14NCBI
Sugp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555242,563,263 - 2,584,834 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555242,563,299 - 2,584,046 (+)NCBIChiLan1.0ChiLan1.0
SUGP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22024,139,305 - 24,183,224 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11923,145,589 - 23,202,487 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,715,215 - 18,758,712 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11919,718,310 - 19,762,402 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1919,718,310 - 19,762,402 (-)Ensemblpanpan1.1panPan2
SUGP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12043,891,572 - 43,922,991 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2043,891,750 - 43,922,986 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2043,808,689 - 43,840,117 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,379,426 - 44,410,890 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,379,614 - 44,410,886 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12043,616,943 - 43,648,396 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,026,542 - 44,058,007 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,301,796 - 44,333,296 (+)NCBIUU_Cfam_GSD_1.0
Sugp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118202,583,859 - 202,614,903 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,133,268 - 2,164,228 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,133,090 - 2,164,042 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SUGP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl258,574,540 - 58,615,448 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1258,574,434 - 58,615,054 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SUGP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,743,065 - 17,784,325 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl617,743,388 - 17,784,126 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660741,522,379 - 1,564,826 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sugp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249082,145,412 - 2,165,088 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249082,145,644 - 2,165,066 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SUGP1
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
NM_172231.3(SUGP1):c.981C>A (p.Phe327Leu) single nucleotide variant Malignant melanoma [RCV000072027] Chr19:19297251 [GRCh38]
Chr19:19408060 [GRCh37]
Chr19:19269060 [NCBI36]
Chr19:19p13.11		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
chr19:19230868-24115369 complex variant complex Breast ductal adenocarcinoma [RCV000207223] Chr19:19230868..24115369 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
NM_172231.4(SUGP1):c.1282C>A (p.Pro428Thr) single nucleotide variant not provided [RCV000422553] Chr19:19280253 [GRCh38]
Chr19:19391062 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.118G>A (p.Ala40Thr) single nucleotide variant Inborn genetic diseases [RCV003282636] Chr19:19316510 [GRCh38]
Chr19:19427319 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_172231.4(SUGP1):c.1231T>C (p.Ser411Pro) single nucleotide variant Inborn genetic diseases [RCV003286947] Chr19:19297001 [GRCh38]
Chr19:19407810 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1424C>A (p.Ala475Glu) single nucleotide variant Inborn genetic diseases [RCV003240743] Chr19:19279317 [GRCh38]
Chr19:19390126 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.974G>T (p.Gly325Val) single nucleotide variant Inborn genetic diseases [RCV003261167] Chr19:19297258 [GRCh38]
Chr19:19408067 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_172231.4(SUGP1):c.1919C>G (p.Pro640Arg) single nucleotide variant Inborn genetic diseases [RCV003267745] Chr19:19276667 [GRCh38]
Chr19:19387476 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_172231.4(SUGP1):c.235A>T (p.Ile79Phe) single nucleotide variant Inborn genetic diseases [RCV003267869] Chr19:19310172 [GRCh38]
Chr19:19420981 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.230C>T (p.Ser77Phe) single nucleotide variant Inborn genetic diseases [RCV003267868] Chr19:19310177 [GRCh38]
Chr19:19420986 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3 copy number gain not provided [RCV000849581] Chr19:19230490..19440304 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.382A>C (p.Ile128Leu) single nucleotide variant Inborn genetic diseases [RCV003291656] Chr19:19306005 [GRCh38]
Chr19:19416814 [GRCh37]
Chr19:19p13.11		 likely benign
NM_172231.4(SUGP1):c.1365C>T (p.Tyr455=) single nucleotide variant not provided [RCV001649139] Chr19:19279376 [GRCh38]
Chr19:19390185 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_172231.4(SUGP1):c.719A>G (p.Glu240Gly) single nucleotide variant Inborn genetic diseases [RCV003305004] Chr19:19303392 [GRCh38]
Chr19:19414201 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.778G>A (p.Asp260Asn) single nucleotide variant Inborn genetic diseases [RCV002972795] Chr19:19302374 [GRCh38]
Chr19:19413183 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.289C>G (p.Gln97Glu) single nucleotide variant Inborn genetic diseases [RCV002817770] Chr19:19310118 [GRCh38]
Chr19:19420927 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.13A>G (p.Met5Val) single nucleotide variant Inborn genetic diseases [RCV002973511] Chr19:19320484 [GRCh38]
Chr19:19431293 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3 copy number gain not provided [RCV002475626] Chr19:19218464..19494045 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.734C>T (p.Ala245Val) single nucleotide variant Inborn genetic diseases [RCV002864675] Chr19:19303377 [GRCh38]
Chr19:19414186 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.860A>G (p.Gln287Arg) single nucleotide variant Inborn genetic diseases [RCV002777489] Chr19:19302292 [GRCh38]
Chr19:19413101 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.361G>A (p.Ala121Thr) single nucleotide variant Inborn genetic diseases [RCV002981551] Chr19:19306026 [GRCh38]
Chr19:19416835 [GRCh37]
Chr19:19p13.11		 likely benign
NM_172231.4(SUGP1):c.174G>T (p.Gln58His) single nucleotide variant Inborn genetic diseases [RCV002889075] Chr19:19316454 [GRCh38]
Chr19:19427263 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1415G>T (p.Trp472Leu) single nucleotide variant Inborn genetic diseases [RCV002925886] Chr19:19279326 [GRCh38]
Chr19:19390135 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.593T>C (p.Phe198Ser) single nucleotide variant Inborn genetic diseases [RCV002870434] Chr19:19303793 [GRCh38]
Chr19:19414602 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1837T>G (p.Ser613Ala) single nucleotide variant Inborn genetic diseases [RCV002912260] Chr19:19277021 [GRCh38]
Chr19:19387830 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1082C>G (p.Pro361Arg) single nucleotide variant Inborn genetic diseases [RCV002919432] Chr19:19297150 [GRCh38]
Chr19:19407959 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1370T>C (p.Met457Thr) single nucleotide variant Inborn genetic diseases [RCV002874358] Chr19:19279371 [GRCh38]
Chr19:19390180 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.946T>A (p.Phe316Ile) single nucleotide variant Inborn genetic diseases [RCV002767617] Chr19:19297286 [GRCh38]
Chr19:19408095 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.728A>G (p.Lys243Arg) single nucleotide variant Inborn genetic diseases [RCV002719989] Chr19:19303383 [GRCh38]
Chr19:19414192 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1189C>G (p.Pro397Ala) single nucleotide variant Inborn genetic diseases [RCV002939791] Chr19:19297043 [GRCh38]
Chr19:19407852 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.908G>A (p.Ser303Asn) single nucleotide variant Inborn genetic diseases [RCV002674233] Chr19:19297324 [GRCh38]
Chr19:19408133 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1667A>G (p.Lys556Arg) single nucleotide variant Inborn genetic diseases [RCV003193833] Chr19:19277848 [GRCh38]
Chr19:19388657 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1108C>T (p.Pro370Ser) single nucleotide variant Inborn genetic diseases [RCV003192683] Chr19:19297124 [GRCh38]
Chr19:19407933 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.1063G>T (p.Ala355Ser) single nucleotide variant Inborn genetic diseases [RCV003360430] Chr19:19297169 [GRCh38]
Chr19:19407978 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.460G>T (p.Val154Leu) single nucleotide variant Inborn genetic diseases [RCV003376874] Chr19:19305927 [GRCh38]
Chr19:19416736 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_172231.4(SUGP1):c.114C>T (p.Leu38=) single nucleotide variant not provided [RCV003406910] Chr19:19316514 [GRCh38]
Chr19:19427323 [GRCh37]
Chr19:19p13.11		 likely benign
NM_172231.4(SUGP1):c.495C>T (p.Asp165=) single nucleotide variant not provided [RCV003423466] Chr19:19305892 [GRCh38]
Chr19:19416701 [GRCh37]
Chr19:19p13.11		 likely benign
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1 copy number loss not specified [RCV003986109] Chr19:18926463..21100330 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6427
Count of miRNA genes:1149
Interacting mature miRNAs:1468
Transcripts:ENST00000247001, ENST00000334782, ENST00000535070, ENST00000585444, ENST00000585763, ENST00000586387, ENST00000587119, ENST00000587716, ENST00000588580, ENST00000588731, ENST00000589144, ENST00000590439, ENST00000591007, ENST00000591350, ENST00000592188, ENST00000606725
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-156040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,431,287 - 19,431,570UniSTSGRCh37
Build 361919,292,287 - 19,292,570RGDNCBI36
Celera1919,335,361 - 19,335,643RGD
Cytogenetic Map19p13.11UniSTS
HuRef1918,994,596 - 18,994,878UniSTS
TNG Radiation Hybrid Map197964.0UniSTS


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 pharyngeal arch
High
Medium 2324 2099 1428 331 1628 174 3977 1513 3278 308 1439 1529 171 1077 2432 4 1
Low 115 892 298 293 323 291 380 684 456 111 21 84 4 1 127 356 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_172231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB960848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC363162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247001   ⟹   ENSP00000247001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,033 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000535070   ⟹   ENSP00000439172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,301,659 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000585444   ⟹   ENSP00000468771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,306,043 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000585763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,297,171 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000586387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,297,182 - 19,303,686 (-)Ensembl
RefSeq Acc Id: ENST00000587119   ⟹   ENSP00000466188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,514 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000587716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,303,725 - 19,320,498 (-)Ensembl
RefSeq Acc Id: ENST00000588580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,305,646 - 19,320,470 (-)Ensembl
RefSeq Acc Id: ENST00000588731   ⟹   ENSP00000465413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,513 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000589144   ⟹   ENSP00000466402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,018 - 19,303,828 (-)Ensembl
RefSeq Acc Id: ENST00000590439   ⟹   ENSP00000477290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,302,330 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000591007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,513 - 19,302,455 (-)Ensembl
RefSeq Acc Id: ENST00000591350   ⟹   ENSP00000468499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,303,351 - 19,320,509 (-)Ensembl
RefSeq Acc Id: ENST00000592188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,276,515 - 19,281,492 (-)Ensembl
RefSeq Acc Id: ENST00000606725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,303,724 - 19,320,497 (-)Ensembl
RefSeq Acc Id: NM_172231   ⟹   NP_757386
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,276,033 - 19,320,509 (-)NCBI
GRCh371919,387,320 - 19,431,321 (-)NCBI
Build 361919,248,322 - 19,292,307 (-)NCBI Archive
Celera1919,291,389 - 19,335,381 (-)RGD
HuRef1918,951,058 - 18,994,630 (-)NCBI
CHM1_11919,388,088 - 19,432,088 (-)NCBI
T2T-CHM13v2.01919,413,485 - 19,457,965 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439142   ⟹   XP_047295098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,276,033 - 19,316,512 (-)NCBI
RefSeq Acc Id: XM_054321580   ⟹   XP_054177555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01919,413,485 - 19,453,968 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_757386   ⟸   NM_172231
- UniProtKB: Q8WWT5 (UniProtKB/Swiss-Prot),   Q8WWT4 (UniProtKB/Swiss-Prot),   Q8TCQ4 (UniProtKB/Swiss-Prot),   Q6P3X9 (UniProtKB/Swiss-Prot),   O60378 (UniProtKB/Swiss-Prot),   Q9NTG3 (UniProtKB/Swiss-Prot),   Q8IWZ8 (UniProtKB/Swiss-Prot),   A5PLN4 (UniProtKB/TrEMBL),   A8K7S0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000468771   ⟸   ENST00000585444
RefSeq Acc Id: ENSP00000466188   ⟸   ENST00000587119
RefSeq Acc Id: ENSP00000465413   ⟸   ENST00000588731
RefSeq Acc Id: ENSP00000439172   ⟸   ENST00000535070
RefSeq Acc Id: ENSP00000466402   ⟸   ENST00000589144
RefSeq Acc Id: ENSP00000247001   ⟸   ENST00000247001
RefSeq Acc Id: ENSP00000477290   ⟸   ENST00000590439
RefSeq Acc Id: ENSP00000468499   ⟸   ENST00000591350
RefSeq Acc Id: XP_047295098   ⟸   XM_047439142
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177555   ⟸   XM_054321580
- Peptide Label: isoform X1
Protein Domains
G-patch   SURP motif

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWZ8-F1-model_v2 AlphaFold Q8IWZ8 1-645 view protein structure

Promoters
RGD ID:6795462
Promoter ID:HG_KWN:29353
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000262815,   ENST00000262816,   ENST00000334782,   ENST00000392313,   NM_172231,   UC002NMI.1,   UC002NMJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361919,292,226 - 19,292,802 (-)MPROMDB
RGD ID:7239239
Promoter ID:EPDNEW_H25365
Type:multiple initiation site
Name:SUGP1_1
Description:SURP and G-patch 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
GRCh381919,320,509 - 19,320,569EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18643 AgrOrtholog
COSMIC SUGP1 COSMIC
Ensembl Genes ENSG00000105705 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000247001 ENTREZGENE
  ENST00000247001.10 UniProtKB/Swiss-Prot
  ENST00000535070.5 UniProtKB/TrEMBL
  ENST00000585444.1 UniProtKB/TrEMBL
  ENST00000587119.5 UniProtKB/TrEMBL
  ENST00000588731.6 UniProtKB/Swiss-Prot
  ENST00000589144.5 UniProtKB/TrEMBL
  ENST00000590439.2 UniProtKB/TrEMBL
  ENST00000591350.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.790 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105705 GTEx
HGNC ID HGNC:18643 ENTREZGENE
Human Proteome Map SUGP1 Human Proteome Map
InterPro G_patch_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGP1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Surp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SWAP/Surp_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57794 UniProtKB/Swiss-Prot
NCBI Gene 57794 ENTREZGENE
OMIM 607992 OMIM
PANTHER PTHR23340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SURP AND G-PATCH DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SURP AND G-PATCH DOMAIN-CONTAINING PROTEIN 1-LIKE PROTEIN UniProtKB/TrEMBL
Pfam G-patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Surp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165394338 PharmGKB
PROSITE G_PATCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  SURP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SWAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PLN4 ENTREZGENE, UniProtKB/TrEMBL
  A8K7S0 ENTREZGENE, UniProtKB/TrEMBL
  B4DVK3_HUMAN UniProtKB/TrEMBL
  K7ELR6_HUMAN UniProtKB/TrEMBL
  K7EM86_HUMAN UniProtKB/TrEMBL
  K7ES12_HUMAN UniProtKB/TrEMBL
  K7ESM0_HUMAN UniProtKB/TrEMBL
  O60378 ENTREZGENE
  Q6P3X9 ENTREZGENE
  Q8IWZ8 ENTREZGENE
  Q8TCQ4 ENTREZGENE
  Q8WWT4 ENTREZGENE
  Q8WWT5 ENTREZGENE
  Q9NTG3 ENTREZGENE
  SUGP1_HUMAN UniProtKB/Swiss-Prot
  V9GZ08_HUMAN UniProtKB/TrEMBL
UniProt Secondary O60378 UniProtKB/Swiss-Prot
  Q6P3X9 UniProtKB/Swiss-Prot
  Q8TCQ4 UniProtKB/Swiss-Prot
  Q8WWT4 UniProtKB/Swiss-Prot
  Q8WWT5 UniProtKB/Swiss-Prot
  Q9NTG3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 SUGP1  SURP and G-patch domain containing 1  SUGP1  SURP and G patch domain containing 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 SUGP1  SURP and G patch domain containing 1  SF4  splicing factor 4  Symbol and/or name change 5135510 APPROVED