SAV1 (salvador family WW domain containing protein 1) - Rat Genome Database

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Gene: SAV1 (salvador family WW domain containing protein 1) Homo sapiens
Analyze
Symbol: SAV1
Name: salvador family WW domain containing protein 1
RGD ID: 1316338
HGNC Page HGNC:17795
Description: Enables identical protein binding activity. Predicted to be involved in hippo signaling; negative regulation of cell population proliferation; and positive regulation of apoptotic process. Predicted to act upstream of or within several processes, including epithelial cell differentiation; negative regulation of cell population proliferation; and positive regulation of keratinocyte apoptotic process. Located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1700040G09Rik; 45 kDa WW domain protein; hWW45; salvador homolog 1; SAV; WW domain-containing; WW domain-containing adaptor 45; WW45; WWP4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100420464  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,633,580 - 50,668,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,632,058 - 50,668,306 (-)EnsemblGRCh38hg38GRCh38
GRCh371451,100,298 - 51,135,024 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,170,110 - 50,204,773 (-)NCBINCBI36Build 36hg18NCBI36
Build 341450,170,109 - 50,204,773NCBI
Celera1430,967,387 - 31,002,030 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1431,225,872 - 31,260,642 (-)NCBIHuRef
CHM1_11451,038,840 - 51,073,614 (-)NCBICHM1_1
T2T-CHM13v2.01444,839,725 - 44,874,442 (-)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
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,IEA,TAS)
nucleus  (IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11027580   PMID:12202036   PMID:12477932   PMID:12969014   PMID:14702039   PMID:15489334   PMID:15688006   PMID:15778465   PMID:16344560   PMID:16751776   PMID:16930133  
PMID:17207965   PMID:17379520   PMID:17517604   PMID:19212654   PMID:19322201   PMID:19797269   PMID:19950692   PMID:20303269   PMID:20562859   PMID:20920251   PMID:21076410   PMID:21104395  
PMID:21145461   PMID:21489991   PMID:21567072   PMID:21873635   PMID:21988832   PMID:22185343   PMID:22570112   PMID:23386615   PMID:23455922   PMID:23524264   PMID:24255178   PMID:24347629  
PMID:24366813   PMID:24535457   PMID:24925725   PMID:24981860   PMID:25367221   PMID:25670202   PMID:25692647   PMID:25814670   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26972000  
PMID:27173435   PMID:27432908   PMID:27661123   PMID:28087714   PMID:28302793   PMID:28514442   PMID:28618450   PMID:28720576   PMID:29063833   PMID:29519817   PMID:30266805   PMID:30681889  
PMID:30867124   PMID:30944303   PMID:31091453   PMID:31586073   PMID:31741433   PMID:32296183   PMID:32694731   PMID:32707033   PMID:32780197   PMID:33060197   PMID:33162394   PMID:33961781  
PMID:34404733   PMID:34672954   PMID:35177623   PMID:35256949   PMID:35414790   PMID:35429439   PMID:35864957   PMID:36538041   PMID:36543142   PMID:36736316  


Genomics

Comparative Map Data
SAV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,633,580 - 50,668,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,632,058 - 50,668,306 (-)EnsemblGRCh38hg38GRCh38
GRCh371451,100,298 - 51,135,024 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,170,110 - 50,204,773 (-)NCBINCBI36Build 36hg18NCBI36
Build 341450,170,109 - 50,204,773NCBI
Celera1430,967,387 - 31,002,030 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1431,225,872 - 31,260,642 (-)NCBIHuRef
CHM1_11451,038,840 - 51,073,614 (-)NCBICHM1_1
T2T-CHM13v2.01444,839,725 - 44,874,442 (-)NCBIT2T-CHM13v2.0
Sav1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391270,011,786 - 70,033,864 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1270,011,786 - 70,033,776 (-)EnsemblGRCm39 Ensembl
GRCm381269,965,009 - 69,988,141 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1269,965,012 - 69,987,002 (-)EnsemblGRCm38mm10GRCm38
MGSCv371271,065,999 - 71,087,989 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361270,883,617 - 70,905,607 (-)NCBIMGSCv36mm8
Celera1271,066,736 - 71,086,376 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1228.94NCBI
Sav1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8694,214,514 - 94,236,354 (-)NCBIGRCr8
mRatBN7.2688,478,536 - 88,500,121 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl688,478,539 - 88,499,968 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx688,878,630 - 88,899,810 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0689,178,093 - 89,199,271 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0688,617,609 - 88,638,787 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0692,376,470 - 92,398,678 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl692,376,093 - 92,398,525 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06101,825,584 - 101,846,408 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4692,081,608 - 92,101,975 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1692,084,683 - 92,105,492 (-)NCBI
Celera686,974,336 - 86,994,740 (-)NCBICelera
Cytogenetic Map6q24NCBI
Sav1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540912,200,721 - 12,220,410 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540912,200,721 - 12,221,520 (+)NCBIChiLan1.0ChiLan1.0
SAV1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21551,772,688 - 51,807,334 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11450,989,615 - 51,024,137 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01431,223,140 - 31,257,871 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11449,525,687 - 49,560,347 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1449,525,687 - 49,560,347 (-)Ensemblpanpan1.1panPan2
SAV1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1827,034,606 - 27,061,926 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl827,022,628 - 27,062,611 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha826,788,420 - 26,815,739 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0827,212,701 - 27,240,724 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl827,213,635 - 27,240,729 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1826,868,220 - 26,896,193 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0826,941,329 - 26,968,924 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0827,285,743 - 27,313,496 (-)NCBIUU_Cfam_GSD_1.0
Sav1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864059,213,993 - 59,236,456 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649514,954,542 - 14,976,580 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649514,955,234 - 14,977,720 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SAV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1180,406,162 - 180,434,196 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11180,404,871 - 180,434,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21200,696,535 - 200,724,804 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SAV1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12427,710,256 - 27,747,638 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2427,711,970 - 27,747,647 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605316,021,200 - 16,056,413 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sav1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473118,262,110 - 18,282,386 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SAV1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1 copy number loss See cases [RCV000051519] Chr14:50591011..56286919 [GRCh38]
Chr14:51057729..56753637 [GRCh37]
Chr14:50127479..55823390 [NCBI36]
Chr14:14q22.1-22.3		 pathogenic
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3 copy number gain See cases [RCV000052059] Chr14:50091150..51777325 [GRCh38]
Chr14:50557868..52244043 [GRCh37]
Chr14:49627618..51313793 [NCBI36]
Chr14:14q21.3-22.1		 uncertain significance
NM_021818.3(SAV1):c.951-323A>G single nucleotide variant Lung cancer [RCV000098912] Chr14:50635707 [GRCh38]
Chr14:51102425 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)x3 copy number gain See cases [RCV000447838] Chr14:50598842..52261074 [GRCh37]
Chr14:14q21.3-22.1		 uncertain significance
GRCh37/hg19 14q22.1(chr14:51088592-51188166)x3 copy number gain See cases [RCV000448469] Chr14:51088592..51188166 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3 copy number gain not provided [RCV000683616] Chr14:50977957..51680043 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q22.1(chr14:51002866-51116512)x3 copy number gain not provided [RCV000847888] Chr14:51002866..51116512 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q22.1(chr14:51117860-51252419)x1 copy number loss not provided [RCV000845759] Chr14:51117860..51252419 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.574A>G (p.Thr192Ala) single nucleotide variant not specified [RCV004284234] Chr14:50644976 [GRCh38]
Chr14:51111694 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3 copy number gain not provided [RCV001006632] Chr14:50317272..51627752 [GRCh37]
Chr14:14q21.3-22.1		 uncertain significance
NM_021818.4(SAV1):c.604C>T (p.Pro202Ser) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374493] Chr14:50644946 [GRCh38]
Chr14:51111664 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q22.1(chr14:51052117-51131803)x1 copy number loss not provided [RCV001834367] Chr14:51052117..51131803 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_021818.4(SAV1):c.437G>A (p.Arg146Gln) single nucleotide variant not specified [RCV004089478] Chr14:50665277 [GRCh38]
Chr14:51131995 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.101T>C (p.Met34Thr) single nucleotide variant not specified [RCV004163219] Chr14:50665613 [GRCh38]
Chr14:51132331 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.455C>T (p.Ala152Val) single nucleotide variant not specified [RCV004087599] Chr14:50665259 [GRCh38]
Chr14:51131977 [GRCh37]
Chr14:14q22.1		 likely benign
NM_021818.4(SAV1):c.469A>G (p.Arg157Gly) single nucleotide variant not specified [RCV004091586] Chr14:50665245 [GRCh38]
Chr14:51131963 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.232A>G (p.Ile78Val) single nucleotide variant not specified [RCV004138647] Chr14:50665482 [GRCh38]
Chr14:51132200 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.436C>T (p.Arg146Trp) single nucleotide variant not specified [RCV004283657] Chr14:50665278 [GRCh38]
Chr14:51131996 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.607C>T (p.Pro203Ser) single nucleotide variant not specified [RCV004257450] Chr14:50644943 [GRCh38]
Chr14:51111661 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.170C>T (p.Pro57Leu) single nucleotide variant not specified [RCV004277900] Chr14:50665544 [GRCh38]
Chr14:51132262 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.500A>G (p.Gln167Arg) single nucleotide variant not specified [RCV004274197] Chr14:50665214 [GRCh38]
Chr14:51131932 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.870G>T (p.Gln290His) single nucleotide variant not specified [RCV004337977] Chr14:50640830 [GRCh38]
Chr14:51107548 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_021818.4(SAV1):c.739G>A (p.Glu247Lys) single nucleotide variant not specified [RCV004450264] Chr14:50644811 [GRCh38]
Chr14:51111529 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.785A>C (p.Tyr262Ser) single nucleotide variant not specified [RCV004450265] Chr14:50644765 [GRCh38]
Chr14:51111483 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.101T>G (p.Met34Arg) single nucleotide variant not specified [RCV004450261] Chr14:50665613 [GRCh38]
Chr14:51132331 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.1145A>T (p.Asn382Ile) single nucleotide variant not specified [RCV004450262] Chr14:50635190 [GRCh38]
Chr14:51101908 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.582T>G (p.His194Gln) single nucleotide variant not specified [RCV004450263] Chr14:50644968 [GRCh38]
Chr14:51111686 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_021818.4(SAV1):c.451C>T (p.Arg151Cys) single nucleotide variant not specified [RCV004195960] Chr14:50665263 [GRCh38]
Chr14:51131981 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074) copy number gain not specified [RCV002053103] Chr14:50598842..52261074 [GRCh37]
Chr14:14q21.3-22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1583
Count of miRNA genes:713
Interacting mature miRNAs:857
Transcripts:ENST00000324679, ENST00000553731, ENST00000555720, ENST00000556735, ENST00000557458, ENST00000602664
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SGC35848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,100,394 - 51,100,493UniSTSGRCh37
Build 361450,170,144 - 50,170,243RGDNCBI36
Celera1430,967,421 - 30,967,520RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,225,968 - 31,226,067UniSTS
GeneMap99-GB4 RH Map14113.5UniSTS
Whitehead-RH Map14174.7UniSTS
NCBI RH Map14461.5UniSTS
WI-16395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,099,841 - 51,099,969UniSTSGRCh37
Build 361450,169,591 - 50,169,719RGDNCBI36
Celera1430,966,868 - 30,966,996RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q13-q23UniSTS
HuRef1431,225,415 - 31,225,543UniSTS
GeneMap99-GB4 RH Map14113.5UniSTS
Whitehead-RH Map14174.7UniSTS
NCBI RH Map14461.5UniSTS
RH98833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,099,003 - 51,099,191UniSTSGRCh37
Build 361450,168,753 - 50,168,941RGDNCBI36
Celera1430,966,030 - 30,966,218RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q13-q23UniSTS
HuRef1431,224,577 - 31,224,765UniSTS
GeneMap99-GB4 RH Map14113.4UniSTS
RH94145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,107,479 - 51,107,599UniSTSGRCh37
Build 361450,177,229 - 50,177,349RGDNCBI36
Celera1430,974,506 - 30,974,626RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,233,058 - 31,233,178UniSTS
GeneMap99-GB4 RH Map14111.7UniSTS
SHGC-67645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,129,314 - 51,129,502UniSTSGRCh37
Build 361450,199,064 - 50,199,252RGDNCBI36
Celera1430,996,337 - 30,996,525RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,254,891 - 31,255,079UniSTS
G36269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,119,808 - 51,119,915UniSTSGRCh37
Build 361450,189,558 - 50,189,665RGDNCBI36
Celera1430,986,833 - 30,986,940RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,245,387 - 31,245,494UniSTS
HSC2BE052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,099,135 - 51,099,339UniSTSGRCh37
Build 361450,168,885 - 50,169,089RGDNCBI36
Celera1430,966,162 - 30,966,366RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q13-q23UniSTS
HuRef1431,224,709 - 31,224,913UniSTS
GeneMap99-GB4 RH Map14115.84UniSTS
Whitehead-RH Map14174.8UniSTS
NCBI RH Map14461.5UniSTS
G20638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,100,457 - 51,100,571UniSTSGRCh37
Build 361450,170,207 - 50,170,321RGDNCBI36
Celera1430,967,484 - 30,967,598RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,226,031 - 31,226,145UniSTS
G36013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,120,067 - 51,120,230UniSTSGRCh37
Build 361450,189,817 - 50,189,980RGDNCBI36
Celera1430,987,092 - 30,987,255RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,245,646 - 31,245,809UniSTS
D14S1336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,126,025 - 51,126,171UniSTSGRCh37
Build 361450,195,775 - 50,195,921RGDNCBI36
Celera1430,993,048 - 30,993,194RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,251,602 - 31,251,748UniSTS
A003P20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,125,830 - 51,125,942UniSTSGRCh37
Build 361450,195,580 - 50,195,692RGDNCBI36
Celera1430,992,853 - 30,992,965RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,251,407 - 31,251,519UniSTS
GeneMap99-GB4 RH Map14113.4UniSTS
Whitehead-RH Map14175.4UniSTS
NCBI RH Map14461.5UniSTS
STS-AA036859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,127,223 - 51,127,471UniSTSGRCh37
Build 361450,196,973 - 50,197,221RGDNCBI36
Celera1430,994,246 - 30,994,494RGD
Cytogenetic Map14q13-q23UniSTS
HuRef1431,252,800 - 31,253,048UniSTS
GeneMap99-GB4 RH Map14113.5UniSTS
NCBI RH Map14461.5UniSTS


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 2129 1732 1115 235 983 80 4022 1541 2042 322 1436 1604 171 1 1203 2488 5 2
Low 307 1183 611 389 892 385 335 656 1692 96 22 9 4 1 300 1
Below cutoff 76 76 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF088000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ292969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA479812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA536352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB543756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324679   ⟹   ENSP00000324729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,633,580 - 50,668,306 (-)Ensembl
RefSeq Acc Id: ENST00000553731   ⟹   ENSP00000450571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,634,828 - 50,665,365 (-)Ensembl
RefSeq Acc Id: ENST00000555720   ⟹   ENSP00000451492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,632,058 - 50,665,509 (-)Ensembl
RefSeq Acc Id: ENST00000556735   ⟹   ENSP00000451596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,665,601 - 50,668,297 (-)Ensembl
RefSeq Acc Id: ENST00000557458   ⟹   ENSP00000452104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,635,113 - 50,644,809 (-)Ensembl
RefSeq Acc Id: ENST00000602664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,664,256 - 50,665,125 (-)Ensembl
RefSeq Acc Id: NM_021818   ⟹   NP_068590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,633,580 - 50,668,306 (-)NCBI
GRCh371451,100,298 - 51,135,071 (-)NCBI
Build 361450,170,110 - 50,204,773 (-)NCBI Archive
Celera1430,967,387 - 31,002,030 (-)RGD
HuRef1431,225,872 - 31,260,642 (-)NCBI
CHM1_11451,038,840 - 51,073,614 (-)NCBI
T2T-CHM13v2.01444,839,725 - 44,874,442 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537057   ⟹   XP_011535359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,633,580 - 50,668,306 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431659   ⟹   XP_047287615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,644,937 - 50,668,306 (-)NCBI
RefSeq Acc Id: XM_054376541   ⟹   XP_054232516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,839,725 - 44,874,442 (-)NCBI
RefSeq Acc Id: XM_054376542   ⟹   XP_054232517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01444,851,082 - 44,874,442 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_068590   ⟸   NM_021818
- UniProtKB: Q9H949 (UniProtKB/Swiss-Prot),   Q6IA58 (UniProtKB/Swiss-Prot),   D3DSB6 (UniProtKB/Swiss-Prot),   A8K4B8 (UniProtKB/Swiss-Prot),   Q9HAK9 (UniProtKB/Swiss-Prot),   Q9H4B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535359   ⟸   XM_011537057
- Peptide Label: isoform X1
- UniProtKB: B3KTQ1 (UniProtKB/TrEMBL),   H0YJH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451492   ⟸   ENST00000555720
RefSeq Acc Id: ENSP00000451596   ⟸   ENST00000556735
RefSeq Acc Id: ENSP00000452104   ⟸   ENST00000557458
RefSeq Acc Id: ENSP00000324729   ⟸   ENST00000324679
RefSeq Acc Id: ENSP00000450571   ⟸   ENST00000553731
RefSeq Acc Id: XP_047287615   ⟸   XM_047431659
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054232516   ⟸   XM_054376541
- Peptide Label: isoform X1
- UniProtKB: B3KTQ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232517   ⟸   XM_054376542
- Peptide Label: isoform X2
Protein Domains
SARAH   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4B6-F1-model_v2 AlphaFold Q9H4B6 1-383 view protein structure

Promoters
RGD ID:6791863
Promoter ID:HG_KWN:19345
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:OTTHUMT00000276879,   UC001WYG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361450,204,396 - 50,205,147 (-)MPROMDB
RGD ID:7227567
Promoter ID:EPDNEW_H19529
Type:initiation region
Name:SAV1_2
Description:salvador family WW domain containing protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19530  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,665,520 - 50,665,580EPDNEW
RGD ID:7227569
Promoter ID:EPDNEW_H19530
Type:initiation region
Name:SAV1_1
Description:salvador family WW domain containing protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19529  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,668,297 - 50,668,357EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17795 AgrOrtholog
COSMIC SAV1 COSMIC
Ensembl Genes ENSG00000151748 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324679 ENTREZGENE
  ENST00000324679.5 UniProtKB/Swiss-Prot
  ENST00000553731.1 UniProtKB/TrEMBL
  ENST00000555720 ENTREZGENE
  ENST00000555720.5 UniProtKB/TrEMBL
  ENST00000556735.1 UniProtKB/TrEMBL
  ENST00000557458.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151748 GTEx
HGNC ID HGNC:17795 ENTREZGENE
Human Proteome Map SAV1 Human Proteome Map
InterPro SARAH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sav UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60485 UniProtKB/Swiss-Prot
NCBI Gene 60485 ENTREZGENE
OMIM 607203 OMIM
PANTHER PROTEIN SALVADOR HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47522 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00397 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134875018 PharmGKB
PROSITE SARAH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K4B8 ENTREZGENE
  B3KTQ1 ENTREZGENE, UniProtKB/TrEMBL
  D3DSB6 ENTREZGENE
  G3V453_HUMAN UniProtKB/TrEMBL
  H0YJ02_HUMAN UniProtKB/TrEMBL
  H0YJH0 ENTREZGENE, UniProtKB/TrEMBL
  H0YJT4_HUMAN UniProtKB/TrEMBL
  Q6IA58 ENTREZGENE
  Q9H4B6 ENTREZGENE
  Q9H949 ENTREZGENE
  Q9HAK9 ENTREZGENE
  SAV1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K4B8 UniProtKB/Swiss-Prot
  D3DSB6 UniProtKB/Swiss-Prot
  Q6IA58 UniProtKB/Swiss-Prot
  Q9H949 UniProtKB/Swiss-Prot
  Q9HAK9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-04-23 SAV1  salvador family WW domain containing protein 1  SAV1  salvador homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED