SART3 (spliceosome associated factor 3, U4/U6 recycling protein) - Rat Genome Database

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Gene: SART3 (spliceosome associated factor 3, U4/U6 recycling protein) Homo sapiens
Analyze
Symbol: SART3
Name: spliceosome associated factor 3, U4/U6 recycling protein
RGD ID: 1323212
HGNC Page HGNC:16860
Description: Enables histone binding activity; snRNA binding activity; and ubiquitin-specific protease binding activity. Involved in nucleosome assembly; spliceosomal tri-snRNP complex assembly; and transcription elongation-coupled chromatin remodeling. Acts upstream of or within regulation of gene expression. Located in Cajal body; U4/U6 snRNP; and U6atac snRNP. Is active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DSAP1; HIV-1 Tat-interacting protein of 110kDa; hSART-3; KIAA0156; MGC138188; P100; p110; p110(nrb); PRP24 homolog; RP11-13G14; SART-3; squamous cell carcinoma antigen recognised by t cells 3; squamous cell carcinoma antigen recognized by T cells 3; squamous cell carcinoma antigen recognized by T-cells 3; tat-interacting protein of 110 kDa; TIP110
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812108,522,214 - 108,561,173 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,522,214 - 108,561,400 (-)EnsemblGRCh38hg38GRCh38
GRCh3712108,915,991 - 108,954,949 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,440,121 - 107,479,295 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412107,418,823 - 107,457,404NCBI
Celera12108,585,375 - 108,624,556 (-)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12105,980,549 - 106,019,720 (-)NCBIHuRef
CHM1_112108,882,205 - 108,921,384 (-)NCBICHM1_1
T2T-CHM13v2.012108,491,579 - 108,530,540 (-)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Structural analyses of the pre-mRNA splicing machinery. Zhang L, etal., Protein Sci. 2013 Jun;22(6):677-92. doi: 10.1002/pro.2266. Epub 2013 May 8.
Additional References at PubMed
PMID:8125298   PMID:8590280   PMID:10463607   PMID:10761712   PMID:10844547   PMID:11092984   PMID:11477570   PMID:11920522   PMID:11959860   PMID:12032085   PMID:12374753   PMID:12421765  
PMID:12477932   PMID:12578909   PMID:14749385   PMID:15031286   PMID:15146197   PMID:15314151   PMID:15452143   PMID:15489334   PMID:15840095   PMID:16344560   PMID:16713569   PMID:17081983  
PMID:17353931   PMID:17643375   PMID:17932509   PMID:18029348   PMID:18567812   PMID:19148489   PMID:19615732   PMID:20360068   PMID:20595234   PMID:21081503   PMID:21145461   PMID:21319273  
PMID:21447833   PMID:21873635   PMID:21988832   PMID:22072767   PMID:22132941   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22863883   PMID:22939629   PMID:23022198  
PMID:23088399   PMID:23403292   PMID:23463506   PMID:23667531   PMID:23822148   PMID:23834120   PMID:24169447   PMID:24217245   PMID:24316072   PMID:24457600   PMID:24526689   PMID:24778252  
PMID:24927181   PMID:24984263   PMID:25315684   PMID:25342469   PMID:25437307   PMID:25544563   PMID:25609649   PMID:25693804   PMID:25921289   PMID:25928721   PMID:25939381   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26508657   PMID:26725010   PMID:26831064   PMID:27060135   PMID:27173435   PMID:27248496   PMID:27255711   PMID:27609421   PMID:27990632   PMID:28077445  
PMID:28088760   PMID:28276505   PMID:28431233   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28675297   PMID:28846114   PMID:28878014   PMID:28986522   PMID:29117863   PMID:29229926  
PMID:29299163   PMID:29378950   PMID:29395067   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29583087   PMID:29590477   PMID:29845934   PMID:29955894   PMID:30021884  
PMID:30119675   PMID:30209976   PMID:30585729   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31048545   PMID:31253590   PMID:31330151   PMID:31527615   PMID:31586073  
PMID:31619517   PMID:31822558   PMID:31956895   PMID:31980649   PMID:32296183   PMID:32416067   PMID:32433965   PMID:32460013   PMID:32495170   PMID:32694731   PMID:32707033   PMID:32839293  
PMID:32941384   PMID:32971831   PMID:32989298   PMID:33022573   PMID:33239621   PMID:33306668   PMID:33729478   PMID:33731348   PMID:33742100   PMID:33916271   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34091597   PMID:34133714   PMID:34244482   PMID:34244565   PMID:34349018   PMID:34373451   PMID:34732716   PMID:34795231   PMID:35008187   PMID:35013218   PMID:35235311  
PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35575683   PMID:35681168   PMID:35785414   PMID:35819319   PMID:35831314   PMID:35944360   PMID:35973513   PMID:36057605  
PMID:36114006   PMID:36215168   PMID:36244648   PMID:36300779   PMID:36373674   PMID:36526897   PMID:36634849   PMID:37039823   PMID:37108203   PMID:37267103   PMID:37296101   PMID:37536630  
PMID:37827155   PMID:37866880   PMID:38113892   PMID:38270169   PMID:38310689   PMID:38777146   PMID:38985674  


Genomics

Comparative Map Data
SART3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812108,522,214 - 108,561,173 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,522,214 - 108,561,400 (-)EnsemblGRCh38hg38GRCh38
GRCh3712108,915,991 - 108,954,949 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,440,121 - 107,479,295 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412107,418,823 - 107,457,404NCBI
Celera12108,585,375 - 108,624,556 (-)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12105,980,549 - 106,019,720 (-)NCBIHuRef
CHM1_112108,882,205 - 108,921,384 (-)NCBICHM1_1
T2T-CHM13v2.012108,491,579 - 108,530,540 (-)NCBIT2T-CHM13v2.0
Sart3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395113,880,505 - 113,910,461 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5113,880,507 - 113,910,571 (-)EnsemblGRCm39 Ensembl
GRCm385113,742,444 - 113,772,400 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5113,742,446 - 113,772,510 (-)EnsemblGRCm38mm10GRCm38
MGSCv375114,192,455 - 114,221,658 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365114,003,445 - 114,032,648 (-)NCBIMGSCv36mm8
Celera5110,843,569 - 110,872,772 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.55NCBI
Sart3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81248,519,579 - 48,547,584 (+)NCBIGRCr8
mRatBN7.21242,859,026 - 42,887,041 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1242,859,305 - 42,887,038 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,025,248 - 44,052,972 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01244,638,843 - 44,666,568 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01243,699,375 - 43,727,099 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01248,628,198 - 48,656,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1248,628,278 - 48,656,096 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,410,018 - 50,438,126 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41243,893,486 - 43,921,131 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11243,756,871 - 43,783,811 (+)NCBI
Celera1244,460,912 - 44,488,637 (+)NCBICelera
Cytogenetic Map12q16NCBI
Sart3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554559,802,260 - 9,832,957 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554559,802,260 - 9,833,326 (-)NCBIChiLan1.0ChiLan1.0
SART3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210116,582,348 - 116,621,301 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112116,578,763 - 116,617,683 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012106,093,738 - 106,132,710 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112109,490,261 - 109,529,091 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12109,489,932 - 109,529,091 (-)Ensemblpanpan1.1panPan2
SART3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12618,308,065 - 18,345,903 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2618,308,733 - 18,345,353 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2617,453,933 - 17,491,866 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02618,654,344 - 18,692,293 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2618,655,068 - 18,692,279 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12617,662,926 - 17,700,867 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02618,645,348 - 18,680,132 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02618,663,732 - 18,701,674 (+)NCBIUU_Cfam_GSD_1.0
Sart3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118144,984,772 - 145,024,975 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936769450,917 - 491,210 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936769450,919 - 490,938 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SART3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1442,223,964 - 42,261,811 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11442,223,752 - 42,259,992 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21444,768,763 - 44,805,281 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SART3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111103,716,517 - 103,752,087 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11103,715,292 - 103,751,874 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037141,343,233 - 141,378,581 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sart3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474711,775,039 - 11,807,552 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474711,775,012 - 11,807,597 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SART3
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014706.4(SART3):c.1771G>A (p.Val591Met) single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000000897] Chr12:108530286 [GRCh38]
Chr12:108924063 [GRCh37]
Chr12:12q23.3
uncertain significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13
pathogenic
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3
pathogenic
NM_014706.3(SART3):c.2809G>A (p.Ala937Thr) single nucleotide variant Malignant melanoma [RCV000069797] Chr12:108523540 [GRCh38]
Chr12:108917317 [GRCh37]
Chr12:107441447 [NCBI36]
Chr12:12q23.3
not provided
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 copy number loss See cases [RCV000138537] Chr12:105644967..108994840 [GRCh38]
Chr12:106038745..109432645 [GRCh37]
Chr12:104562875..107917026 [NCBI36]
Chr12:12q23.3-24.11
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_014706.4(SART3):c.2707T>C (p.Tyr903His) single nucleotide variant not specified [RCV004304421] Chr12:108524323 [GRCh38]
Chr12:108918100 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.272A>C (p.Glu91Ala) single nucleotide variant not specified [RCV004282507] Chr12:108560883 [GRCh38]
Chr12:108954659 [GRCh37]
Chr12:12q23.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3 copy number gain not provided [RCV003312255] Chr12:108917234..109052695 [GRCh37]
Chr12:12q23.3-24.11
uncertain significance
NM_014706.4(SART3):c.1310-5G>A single nucleotide variant not provided [RCV000905116] Chr12:108536790 [GRCh38]
Chr12:108930566 [GRCh37]
Chr12:12q23.3
benign
NM_014706.4(SART3):c.544+10C>T single nucleotide variant not provided [RCV000880546] Chr12:108547877 [GRCh38]
Chr12:108941653 [GRCh37]
Chr12:12q23.3
benign
NM_014706.4(SART3):c.2073C>T (p.Asp691=) single nucleotide variant not provided [RCV000971398] Chr12:108526396 [GRCh38]
Chr12:108920173 [GRCh37]
Chr12:12q23.3
benign
NM_014706.4(SART3):c.2796C>T (p.Asn932=) single nucleotide variant not provided [RCV000967285] Chr12:108523553 [GRCh38]
Chr12:108917330 [GRCh37]
Chr12:12q23.3
benign
NM_014706.4(SART3):c.619C>T (p.Arg207Cys) single nucleotide variant not specified [RCV004295782] Chr12:108545249 [GRCh38]
Chr12:108939025 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2153C>T (p.Pro718Leu) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236678] Chr12:108526316 [GRCh38]
Chr12:108920093 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.1555A>G (p.Arg519Gly) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236679] Chr12:108535360 [GRCh38]
Chr12:108929136 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.1110C>T (p.Arg370=) single nucleotide variant not provided [RCV000947482] Chr12:108538156 [GRCh38]
Chr12:108931932 [GRCh37]
Chr12:12q23.3
benign
NM_014706.4(SART3):c.631G>A (p.Glu211Lys) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236673] Chr12:108545237 [GRCh38]
Chr12:108939013 [GRCh37]
Chr12:12q23.3
likely pathogenic
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12
pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1 copy number loss not provided [RCV001270637] Chr12:107197584..109830564 [GRCh37]
Chr12:12q23.3-24.11
uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12
pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11
likely pathogenic
NM_014706.4(SART3):c.2299C>T (p.Arg767Trp) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236674] Chr12:108526170 [GRCh38]
Chr12:108919947 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.757C>T (p.Arg253Ter) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236675] Chr12:108544451 [GRCh38]
Chr12:108938227 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.1477C>T (p.Arg493Trp) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236676] Chr12:108535438 [GRCh38]
Chr12:108929214 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.646T>C (p.Ser216Pro) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236677] Chr12:108545222 [GRCh38]
Chr12:108938998 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.2507G>A (p.Arg836Gln) single nucleotide variant Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236672] Chr12:108525473 [GRCh38]
Chr12:108919250 [GRCh37]
Chr12:12q23.3
likely pathogenic
NM_014706.4(SART3):c.2036C>T (p.Ser679Leu) single nucleotide variant not specified [RCV004159733] Chr12:108526433 [GRCh38]
Chr12:108920210 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1639G>A (p.Glu547Lys) single nucleotide variant not specified [RCV004084787] Chr12:108532252 [GRCh38]
Chr12:108926028 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2435G>A (p.Cys812Tyr) single nucleotide variant not specified [RCV004146824] Chr12:108525545 [GRCh38]
Chr12:108919322 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.715G>T (p.Val239Leu) single nucleotide variant not specified [RCV004247096] Chr12:108545153 [GRCh38]
Chr12:108938929 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1398G>C (p.Glu466Asp) single nucleotide variant not specified [RCV004142180] Chr12:108536562 [GRCh38]
Chr12:108930338 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1363T>C (p.Tyr455His) single nucleotide variant not specified [RCV004202980] Chr12:108536732 [GRCh38]
Chr12:108930508 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1561C>T (p.His521Tyr) single nucleotide variant not specified [RCV004169529] Chr12:108532330 [GRCh38]
Chr12:108926106 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1402G>A (p.Gly468Ser) single nucleotide variant not specified [RCV004227064] Chr12:108536558 [GRCh38]
Chr12:108930334 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1978G>C (p.Val660Leu) single nucleotide variant not specified [RCV004151292] Chr12:108526491 [GRCh38]
Chr12:108920268 [GRCh37]
Chr12:12q23.3
likely benign
NM_014706.4(SART3):c.1210G>A (p.Glu404Lys) single nucleotide variant not specified [RCV004123400] Chr12:108537587 [GRCh38]
Chr12:108931363 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2212A>G (p.Ile738Val) single nucleotide variant not specified [RCV004191839] Chr12:108526257 [GRCh38]
Chr12:108920034 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.616G>A (p.Val206Ile) single nucleotide variant not specified [RCV004241511] Chr12:108545252 [GRCh38]
Chr12:108939028 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.323A>G (p.Asn108Ser) single nucleotide variant not specified [RCV004213282] Chr12:108549204 [GRCh38]
Chr12:108942980 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.95C>G (p.Ala32Gly) single nucleotide variant not specified [RCV004116586] Chr12:108561060 [GRCh38]
Chr12:108954836 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1918C>A (p.Gln640Lys) single nucleotide variant not specified [RCV004156556] Chr12:108526551 [GRCh38]
Chr12:108920328 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1394A>G (p.Asn465Ser) single nucleotide variant not specified [RCV004103509] Chr12:108536566 [GRCh38]
Chr12:108930342 [GRCh37]
Chr12:12q23.3
likely benign
NM_014706.4(SART3):c.94G>A (p.Ala32Thr) single nucleotide variant not specified [RCV004176888] Chr12:108561061 [GRCh38]
Chr12:108954837 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.119C>T (p.Ser40Leu) single nucleotide variant not specified [RCV004237055] Chr12:108561036 [GRCh38]
Chr12:108954812 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2376C>G (p.Phe792Leu) single nucleotide variant not specified [RCV004097248] Chr12:108525604 [GRCh38]
Chr12:108919381 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.644C>T (p.Ser215Leu) single nucleotide variant not specified [RCV004076781] Chr12:108545224 [GRCh38]
Chr12:108939000 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.11C>T (p.Ala4Val) single nucleotide variant not specified [RCV004255139] Chr12:108561144 [GRCh38]
Chr12:108954920 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.174G>T (p.Gln58His) single nucleotide variant not specified [RCV004258721] Chr12:108560981 [GRCh38]
Chr12:108954757 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.625G>A (p.Val209Met) single nucleotide variant not provided [RCV003331482] Chr12:108545243 [GRCh38]
Chr12:108939019 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2818G>C (p.Val940Leu) single nucleotide variant not specified [RCV004361263] Chr12:108523531 [GRCh38]
Chr12:108917308 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2786A>G (p.Gln929Arg) single nucleotide variant not specified [RCV004450201] Chr12:108523563 [GRCh38]
Chr12:108917340 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.831A>G (p.Ile277Met) single nucleotide variant not specified [RCV004450203] Chr12:108543103 [GRCh38]
Chr12:108936879 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2717G>A (p.Arg906Lys) single nucleotide variant not specified [RCV004450200] Chr12:108523632 [GRCh38]
Chr12:108917409 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1045C>T (p.Arg349Cys) single nucleotide variant not specified [RCV004450193] Chr12:108538951 [GRCh38]
Chr12:108932727 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2504A>G (p.Asn835Ser) single nucleotide variant not specified [RCV004450198] Chr12:108525476 [GRCh38]
Chr12:108919253 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2824G>A (p.Ala942Thr) single nucleotide variant not specified [RCV004450202] Chr12:108523525 [GRCh38]
Chr12:108917302 [GRCh37]
Chr12:12q23.3
likely benign
NM_014706.4(SART3):c.1277A>T (p.Asp426Val) single nucleotide variant not specified [RCV004450195] Chr12:108537520 [GRCh38]
Chr12:108931296 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2549A>G (p.Asn850Ser) single nucleotide variant not specified [RCV004450199] Chr12:108524481 [GRCh38]
Chr12:108918258 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1351C>T (p.Arg451Cys) single nucleotide variant not specified [RCV004450196] Chr12:108536744 [GRCh38]
Chr12:108930520 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2282A>G (p.Gln761Arg) single nucleotide variant not specified [RCV004450197] Chr12:108526187 [GRCh38]
Chr12:108919964 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.647C>G (p.Ser216Cys) single nucleotide variant not specified [RCV004658488] Chr12:108545221 [GRCh38]
Chr12:108938997 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2822C>A (p.Ala941Asp) single nucleotide variant not specified [RCV004658489] Chr12:108523527 [GRCh38]
Chr12:108917304 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1712C>T (p.Thr571Ile) single nucleotide variant not specified [RCV004674482] Chr12:108531238 [GRCh38]
Chr12:108925015 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.1955C>G (p.Pro652Arg) single nucleotide variant not specified [RCV004674483] Chr12:108526514 [GRCh38]
Chr12:108920291 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2801C>T (p.Pro934Leu) single nucleotide variant not specified [RCV004674484] Chr12:108523548 [GRCh38]
Chr12:108917325 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2419G>A (p.Gly807Ser) single nucleotide variant not specified [RCV004674485] Chr12:108525561 [GRCh38]
Chr12:108919338 [GRCh37]
Chr12:12q23.3
uncertain significance
NM_014706.4(SART3):c.2828C>T (p.Pro943Leu) single nucleotide variant not specified [RCV004674486] Chr12:108523521 [GRCh38]
Chr12:108917298 [GRCh37]
Chr12:12q23.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3900
Count of miRNA genes:1221
Interacting mature miRNAs:1536
Transcripts:ENST00000228284, ENST00000431469, ENST00000546611, ENST00000546728, ENST00000546808, ENST00000546815, ENST00000547196, ENST00000547397, ENST00000547528, ENST00000548077, ENST00000548119, ENST00000548582, ENST00000550322, ENST00000550619, ENST00000551416, ENST00000552221
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407269174GWAS918150_Hbody height QTL GWAS918150 (human)7e-16body height (VT:0001253)body height (CMO:0000106)12108550453108550454Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
1357361BW37_HBody weight QTL 37 (human)4.080.00001Body fat amount12102836889116423339Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human

Markers in Region
D12S1605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,703,842 - 108,704,042UniSTSGRCh37
Build 3612107,227,972 - 107,228,172RGDNCBI36
Celera12108,373,268 - 108,373,468RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,768,746 - 105,768,944UniSTS
Marshfield Genetic Map12116.66RGD
Marshfield Genetic Map12116.66UniSTS
Genethon Genetic Map12117.7UniSTS
deCODE Assembly Map12122.79UniSTS
Stanford-G3 RH Map124639.0UniSTS
GeneMap99-GB4 RH Map12428.95UniSTS
NCBI RH Map12706.3UniSTS
GeneMap99-G3 RH Map124585.0UniSTS
D12S78  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712104,264,549 - 104,264,737UniSTSGRCh37
Build 3612102,788,679 - 102,788,867RGDNCBI36
Celera12103,928,849 - 103,929,033RGD
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q12-q21UniSTS
HuRef12101,324,688 - 101,324,872UniSTS
Marshfield Genetic Map12111.87UniSTS
Marshfield Genetic Map12111.87RGD
Genethon Genetic Map12113.3UniSTS
TNG Radiation Hybrid Map1248940.0UniSTS
Stanford-G3 RH Map124434.0UniSTS
GeneMap99-GB4 RH Map12407.4UniSTS
Whitehead-RH Map12501.3UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12689.3UniSTS
GeneMap99-G3 RH Map124380.0UniSTS
D12S1727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712101,701,017 - 101,701,189UniSTSGRCh37
Build 3612100,225,148 - 100,225,320RGDNCBI36
Celera12101,366,323 - 101,366,495RGD
Cytogenetic Map12q23UniSTS
Cytogenetic Map12q24.1UniSTS
HuRef1298,761,178 - 98,761,348UniSTS
Marshfield Genetic Map12107.19RGD
Marshfield Genetic Map12107.19UniSTS
Genethon Genetic Map12108.1UniSTS
deCODE Assembly Map12112.68UniSTS
Stanford-G3 RH Map124208.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map124154.0UniSTS
WI-17609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,916,018 - 108,916,145UniSTSGRCh37
Build 3612107,440,148 - 107,440,275RGDNCBI36
Celera12108,585,402 - 108,585,529RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,980,576 - 105,980,703UniSTS
GeneMap99-GB4 RH Map12424.03UniSTS
Whitehead-RH Map12518.0UniSTS
NCBI RH Map12704.8UniSTS
A007J29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,916,166 - 108,916,278UniSTSGRCh37
Build 3612107,440,296 - 107,440,408RGDNCBI36
Celera12108,585,550 - 108,585,662RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,980,724 - 105,980,836UniSTS
GeneMap99-GB4 RH Map12425.74UniSTS
NCBI RH Map12704.8UniSTS
RH25375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,954,722 - 108,954,837UniSTSGRCh37
Build 3612107,478,852 - 107,478,967RGDNCBI36
Celera12108,624,112 - 108,624,227RGD
Cytogenetic Map12q24.1UniSTS
HuRef12106,019,276 - 106,019,391UniSTS
G54201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,924,023 - 108,924,223UniSTSGRCh37
Build 3612107,448,153 - 107,448,353RGDNCBI36
Celera12108,593,408 - 108,593,608RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,988,582 - 105,988,782UniSTS
D12F290S2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,951,913 - 108,952,059UniSTSGRCh37
Build 3612107,476,043 - 107,476,189RGDNCBI36
Celera12108,621,305 - 108,621,451RGD
Cytogenetic Map12q24.1UniSTS
HuRef12106,016,467 - 106,016,613UniSTS
SHGC-173295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,923,114 - 108,923,394UniSTSGRCh37
Build 3612107,447,244 - 107,447,524RGDNCBI36
Celera12108,592,499 - 108,592,779RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,987,673 - 105,987,953UniSTS
TNG Radiation Hybrid Map1253279.0UniSTS
SGC31638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,916,985 - 108,917,205UniSTSGRCh37
Build 3612107,441,115 - 107,441,335RGDNCBI36
Celera12108,586,369 - 108,586,589RGD
Cytogenetic Map12q24.1UniSTS
HuRef12105,981,543 - 105,981,763UniSTS
GeneMap99-GB4 RH Map12424.03UniSTS
Whitehead-RH Map12518.0UniSTS
NCBI RH Map12704.8UniSTS
SART3_3515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,916,300 - 108,917,212UniSTSGRCh37
Build 3612107,440,430 - 107,441,342RGDNCBI36
Celera12108,585,684 - 108,586,596RGD
HuRef12105,980,858 - 105,981,770UniSTS
SART3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,919,256 - 108,919,907UniSTSGRCh37
Celera12108,588,640 - 108,589,291UniSTS
HuRef12105,983,814 - 105,984,465UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF387506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI656011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ231651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN349201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA391623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON681590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000228284   ⟹   ENSP00000228284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,522,704 - 108,561,159 (-)Ensembl
Ensembl Acc Id: ENST00000431469   ⟹   ENSP00000414453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,523,412 - 108,561,159 (-)Ensembl
Ensembl Acc Id: ENST00000546611   ⟹   ENSP00000448554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,560,217 - 108,561,400 (-)Ensembl
Ensembl Acc Id: ENST00000546728   ⟹   ENSP00000449743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,522,708 - 108,561,161 (-)Ensembl
Ensembl Acc Id: ENST00000546808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,531,204 - 108,535,573 (-)Ensembl
Ensembl Acc Id: ENST00000546815   ⟹   ENSP00000449386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,522,214 - 108,561,173 (-)Ensembl
Ensembl Acc Id: ENST00000547397   ⟹   ENSP00000447875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,523,869 - 108,526,185 (-)Ensembl
Ensembl Acc Id: ENST00000547528   ⟹   ENSP00000446577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,530,210 - 108,561,160 (-)Ensembl
Ensembl Acc Id: ENST00000548077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,531,224 - 108,537,695 (-)Ensembl
Ensembl Acc Id: ENST00000548119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,537,106 - 108,538,132 (-)Ensembl
Ensembl Acc Id: ENST00000548582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,530,210 - 108,532,617 (-)Ensembl
Ensembl Acc Id: ENST00000550322   ⟹   ENSP00000447324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,543,069 - 108,549,328 (-)Ensembl
Ensembl Acc Id: ENST00000550619   ⟹   ENSP00000449602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,545,139 - 108,554,198 (-)Ensembl
Ensembl Acc Id: ENST00000551416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,543,112 - 108,544,944 (-)Ensembl
Ensembl Acc Id: ENST00000552221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,545,289 - 108,561,168 (-)Ensembl
Ensembl Acc Id: ENST00000619503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,530,223 - 108,531,968 (-)Ensembl
Ensembl Acc Id: ENST00000651280   ⟹   ENSP00000498612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,522,590 - 108,561,173 (-)Ensembl
RefSeq Acc Id: NM_001410983   ⟹   NP_001397912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,522,214 - 108,561,173 (-)NCBI
T2T-CHM13v2.012108,491,579 - 108,530,540 (-)NCBI
RefSeq Acc Id: NM_014706   ⟹   NP_055521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,522,214 - 108,561,173 (-)NCBI
GRCh3712108,915,991 - 108,955,165 (-)ENTREZGENE
GRCh3712108,915,991 - 108,955,165 (-)NCBI
Build 3612107,440,121 - 107,479,295 (-)NCBI Archive
HuRef12105,980,549 - 106,019,720 (-)ENTREZGENE
CHM1_112108,882,205 - 108,921,384 (-)NCBI
T2T-CHM13v2.012108,491,579 - 108,530,540 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429916   ⟹   XP_047285872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,522,214 - 108,542,844 (-)NCBI
RefSeq Acc Id: XM_054373894   ⟹   XP_054229869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012108,491,579 - 108,512,203 (-)NCBI
RefSeq Acc Id: NP_055521   ⟸   NM_014706
- Peptide Label: isoform 1
- UniProtKB: Q8IUS1 (UniProtKB/Swiss-Prot),   Q58F06 (UniProtKB/Swiss-Prot),   Q2M2H0 (UniProtKB/Swiss-Prot),   B7ZKM0 (UniProtKB/Swiss-Prot),   A8K2E4 (UniProtKB/Swiss-Prot),   Q96J95 (UniProtKB/Swiss-Prot),   Q15020 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000228284   ⟸   ENST00000228284
Ensembl Acc Id: ENSP00000448554   ⟸   ENST00000546611
Ensembl Acc Id: ENSP00000449386   ⟸   ENST00000546815
Ensembl Acc Id: ENSP00000449743   ⟸   ENST00000546728
Ensembl Acc Id: ENSP00000446577   ⟸   ENST00000547528
Ensembl Acc Id: ENSP00000447875   ⟸   ENST00000547397
Ensembl Acc Id: ENSP00000498612   ⟸   ENST00000651280
Ensembl Acc Id: ENSP00000414453   ⟸   ENST00000431469
Ensembl Acc Id: ENSP00000447324   ⟸   ENST00000550322
Ensembl Acc Id: ENSP00000449602   ⟸   ENST00000550619
RefSeq Acc Id: XP_047285872   ⟸   XM_047429916
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001397912   ⟸   NM_001410983
- Peptide Label: isoform 2
- UniProtKB: A0A499FI31 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229869   ⟸   XM_054373894
- Peptide Label: isoform X1
Protein Domains
RRM   Suppressor of forked

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15020-F1-model_v2 AlphaFold Q15020 1-963 view protein structure

Promoters
RGD ID:6790458
Promoter ID:HG_KWN:16568
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001TMY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612107,458,936 - 107,459,436 (-)MPROMDB
RGD ID:6790462
Promoter ID:HG_KWN:16569
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014706,   UC001TNA.1,   UC001TNB.2,   UC009ZUX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612107,478,231 - 107,480,267 (-)MPROMDB
RGD ID:7225305
Promoter ID:EPDNEW_H18398
Type:multiple initiation site
Name:SART3_1
Description:squamous cell carcinoma antigen recognized by T-cells 3
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
GRCh3812108,561,168 - 108,561,228EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16860 AgrOrtholog
COSMIC SART3 COSMIC
Ensembl Genes ENSG00000075856 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228284 ENTREZGENE
  ENST00000228284.8 UniProtKB/TrEMBL
  ENST00000431469.6 UniProtKB/Swiss-Prot
  ENST00000546611.1 UniProtKB/Swiss-Prot
  ENST00000546728.5 UniProtKB/Swiss-Prot
  ENST00000546815 ENTREZGENE
  ENST00000546815.6 UniProtKB/Swiss-Prot
  ENST00000547397.1 UniProtKB/TrEMBL
  ENST00000547528.5 UniProtKB/TrEMBL
  ENST00000550322.5 UniProtKB/TrEMBL
  ENST00000550619.1 UniProtKB/TrEMBL
  ENST00000651280.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075856 GTEx
HGNC ID HGNC:16860 ENTREZGENE
Human Proteome Map SART3 Human Proteome Map
InterPro HAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LSM_interact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SART3_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SART3_RRM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9733 UniProtKB/Swiss-Prot
NCBI Gene 9733 ENTREZGENE
OMIM 611684 OMIM
PANTHER EMBRYO DEFECTIVE 140 UniProtKB/TrEMBL
  PRE-MRNA PROCESSING PROTEIN PRP39-RELATED UniProtKB/TrEMBL
  RIBONUCLEIC ACID BINDING PROTEIN S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T-CELLS 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LSM_int_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lsm_interact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34948 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0L2_HUMAN UniProtKB/TrEMBL
  A0A499FI31 ENTREZGENE, UniProtKB/TrEMBL
  A8K2E4 ENTREZGENE
  B7ZKM0 ENTREZGENE
  F8VVK9_HUMAN UniProtKB/TrEMBL
  F8VZM2_HUMAN UniProtKB/TrEMBL
  F8W667_HUMAN UniProtKB/TrEMBL
  H0YHU8_HUMAN UniProtKB/TrEMBL
  Q15020 ENTREZGENE
  Q2M2H0 ENTREZGENE
  Q58F06 ENTREZGENE
  Q8IUS1 ENTREZGENE
  Q96J95 ENTREZGENE
  SART3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K2E4 UniProtKB/Swiss-Prot
  B7ZKM0 UniProtKB/Swiss-Prot
  Q2M2H0 UniProtKB/Swiss-Prot
  Q58F06 UniProtKB/Swiss-Prot
  Q8IUS1 UniProtKB/Swiss-Prot
  Q96J95 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-14 SART3  spliceosome associated factor 3, U4/U6 recycling protein  SART3  squamous cell carcinoma antigen recognized by T cells 3  Symbol and/or name change 5135510 APPROVED
2017-12-19 SART3  squamous cell carcinoma antigen recognized by T cells 3  SART3  squamous cell carcinoma antigen recognized by T-cells 3  Symbol and/or name change 5135510 APPROVED
2015-11-17 SART3  squamous cell carcinoma antigen recognized by T-cells 3  SART3  squamous cell carcinoma antigen recognized by T cells 3  Symbol and/or name change 5135510 APPROVED