EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr345735347Missense_MutationnovelR405C0.29
BLCAchr345743646Missense_MutationnovelV581F0.69
BLCAchr345732132Missense_MutationNAE361Q0.3
BLCAchr345738860Missense_MutationnovelW519L0.08
BLCAchr345738861Missense_MutationnovelW519C0.08
BLCAchr345737791SilentnovelN443N0.95
BRCAchr345705139Missense_MutationNAK45N0.29
BRCAchr345735208Intronnovel0.51
CESCchr345735087Intronnovel0.43
CESCchr345709551SilentNAD129D0.24
CESCchr345735068Intronnovel0.44
CESCchr3457450603'UTRnovel0.58
COADchr345735207Intronnovel0.33
COADchr345732084Frame_Shift_DelnovelN346Ifs*20.35
COADchr3456893085'UTRnovel0.35
COADchr345743631Missense_MutationnovelD576N0.36
COADchr345706793SilentnovelI73I0.07
COADchr345738872Missense_MutationNAA523V0.37
COADchr345743558SilentNAA551A0.3
ESCAchr345735348Missense_Mutationrs745878798R405H0.25
GBMchr3457436893'UTRrs7547126140.45
GBMchr345735170Intronnovel0.09
GBMchr345738634Missense_MutationnovelR480Q0.33
GBMchr3457437523'UTRnovel0.15
HNSCchr345735283Silentrs138504596G383G0.23
HNSCchr345735304Missense_MutationnovelM390I0.26
HNSCchr345743594Frame_Shift_InsnovelI566Yfs*760.25
KIRCchr3457438433'UTRnovel0.25
KIRPchr345738781Missense_MutationNAD493N0.56
KIRPchr345732140Missense_MutationNAQ363H0.47
LGGchr345709550Missense_MutationnovelD129G0.19
LGGchr345703476Missense_Mutationrs745558204D24G0.25
LIHCchr345713195Missense_MutationNAE181V0.39
LIHCchr345706873Missense_MutationNAY100C0.28
LIHCchr345735223Intronnovel0.3
LIHCchr3456894085'UTRnovel0.46
LIHCchr345709627Missense_MutationnovelE155Q0.21
LUADchr345735365Nonsense_MutationnovelQ411*0.06
LUSCchr345739615Missense_MutationNAS533L0.12
LUSCchr345722916SilentnovelK271K0.14
LUSCchr345732057Missense_MutationnovelI336V0.5
LUSCchr3457438483'UTRnovel0.75
OVchr345738799Missense_MutationnovelL499V0.09
OVchr345705207Nonsense_MutationnovelG69Sfs*60.13
PAADchr345709623SilentnovelF153F0.09
PCPGchr345706873Missense_MutationNAY100C0.39
PRADchr345703515Missense_Mutationrs761208104S37Y0.35
PRADchr345705189Missense_MutationnovelG62D0.06
PRADchr345719531SilentNAG203G0.08
PRADchr345705190SilentnovelG62G0.33
READchr345705146Missense_MutationnovelV48F0.04
READchr345709636Missense_MutationnovelL158I0.32
READchr345743630Silentrs376313343V575V0.42
SKCMchr345735334SilentnovelQ400Q0.16
SKCMchr345732102Nonsense_MutationNAR351*0.27
SKCMchr345735359Nonsense_MutationNAQ409*0.21
SKCMchr3457437533'UTRnovel0.44
SKCMchr3457437543'UTRnovel0.41
SKCMchr345722009Missense_Mutationrs780924690S230L0.14
SKCMchr345738656Silentrs371656902S487S0.39
SKCMchr345706880SilentNAK102K0.54
STADchr345735284Missense_Mutationrs377734878V384M0.33
STADchr345738656Silentrs371656902S487S0.15
STADchr345743556Missense_MutationNAA551T0.24
STADchr3457436883'UTRrs2009218390.09
STADchr345703508Missense_MutationNAR35G0.35
STADchr3457437383'UTRnovel0.4
STADchr345703484Missense_Mutationrs188211739A27T0.07
STADchr345735229Splice_Regionnovel0.09
STADchr345738635In_Frame_InsnovelY482dup0.12
STADchr345743568Missense_MutationnovelF555L0.06
STADchr345743595Frame_Shift_DelNAF565Lfs*220.3
STADchr345705136Splice_RegionNAV44V0.35
THCAchr345743587Missense_MutationnovelI561T0.16
UCECchr345703492Silentrs776446200D29D0.21
UCECchr345719586Missense_Mutationrs200252063R222C0.18
UCECchr345719587Missense_MutationnovelR222H0.37
UCECchr345738634Missense_MutationnovelR480Q0.14
UCECchr345709576Missense_MutationnovelD138Y0.07
UCECchr345709523Missense_Mutationrs769223692A120V0.47
UCECchr3457444903'UTRnovel0.48
UCECchr3457437913'UTRnovel0.46
UCECchr3457437813'UTRnovel0.17
UCECchr345705196SilentnovelI64I0.19
UCECchr3457443913'UTRnovel0.55
UCECchr345735137Intronnovel0.38
UCECchr345722875Nonsense_MutationnovelG258*0.23
UCECchr345709583Missense_MutationnovelT140I0.42
UCECchr3457445143'UTRrs3730720630.19
UCECchr345706797Missense_MutationnovelI75V0.3
UCECchr3457437613'UTRnovel0.41
UCECchr3457447273'UTRnovel0.5
UCECchr345709522Missense_MutationnovelA120S0.35
UCECchr345735222Intronnovel0.38
UCECchr345709591SilentnovelL143L0.28
UCECchr3457452663'UTRnovel0.27
UCECchr3457448123'UTRnovel0.34
UCECchr345722046Missense_MutationnovelQ242H0.42
UCECchr3457445143'UTRrs3730720630.17
UCECchr345732102Nonsense_MutationNAR351*0.47
UCECchr345743624Missense_MutationnovelD573E0.38
UCECchr345705192Missense_MutationnovelT63I0.33
UCECchr345735132Intronnovel0.33
UCECchr345703466Missense_MutationnovelE21K0.21
UCECchr345722009Missense_Mutationrs780924690S230L0.15
UCECchr345737643Missense_MutationnovelY434D0.21
UCECchr3457447093'UTRnovel0.09
UCECchr345735258Missense_MutationnovelG375D0.12
UCECchr345709539SilentNAV125V0.37
UCECchr345732102Nonsense_MutationNAR351*0.42
UCECchr345738785Missense_MutationnovelS494Y0.18
UCECchr345738807SilentnovelN501N0.13
UCECchr345743607Missense_MutationnovelL568I0.36
UCECchr3457437713'UTRnovel0.27
UCECchr3457444173'UTRnovel0.31
UCSchr345722009Missense_Mutationrs780924690S230L0.44

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CHOLDEL0.80560.02241
DLBCDEL0.1250.016959
GBMDEL0.0780.056565
LGGDEL0.0780.00089193
LUADDEL0.33530.0021265
PAADDEL0.17930.030662
SARCDEL0.19070.0034746
SKCMDEL0.16350.13887
TGCTDEL0.20.08422
THYMDEL0.08940.037527

Survival Analysis
CancerP-value Q-value
KIRC0.014

Kaplan-Meier Survival Analysis

SARC0.046

Kaplan-Meier Survival Analysis

SKCM0.002

Kaplan-Meier Survival Analysis

PRAD0.0077

Kaplan-Meier Survival Analysis

KIRP0.026

Kaplan-Meier Survival Analysis

COAD0.0071

Kaplan-Meier Survival Analysis

BLCA0.015

Kaplan-Meier Survival Analysis

READ0.013

Kaplan-Meier Survival Analysis

LAML0.01

Kaplan-Meier Survival Analysis

KICH0.032

Kaplan-Meier Survival Analysis

GBM0.031

Kaplan-Meier Survival Analysis

LIHC0.018

Kaplan-Meier Survival Analysis

LGG0.00011

Kaplan-Meier Survival Analysis

LUAD0.0014

Kaplan-Meier Survival Analysis

OV0.015

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000211456 (Gene tree)
Gene ID
22908
Gene Symbol
SACM1L
Alias
SAC1|KIAA0851
Full Name
SAC1 like phosphatidylinositide phosphatase
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
56,369 bases
Position
chr3:45,689,056-45,745,424
Accession
17059
RBP type
non-canonical RBP
Summary
This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000418611SACM1L-2022164-ENSP00000396387484 (aa)-E9PGZ4
ENST00000478586SACM1L-214534--- (aa)--
ENST00000463347SACM1L-209854--- (aa)--
ENST00000438671SACM1L-204542-ENSP00000411966112 (aa)-C9J3E3
ENST00000389061SACM1L-2013723XM_011533500ENSP00000373713587 (aa)XP_011531802Q9NTJ5
ENST00000463237SACM1L-208962--- (aa)--
ENST00000485311SACM1L-215591--- (aa)--
ENST00000445499SACM1L-206583--- (aa)--
ENST00000464102SACM1L-2113043--- (aa)--
ENST00000441228SACM1L-2052013-ENSP0000040626371 (aa)-F8WCQ2
ENST00000471207SACM1L-213534--- (aa)--
ENST00000463659SACM1L-210950--- (aa)--
ENST00000455997SACM1L-2074661-ENSP00000389975287 (aa)-F8WDN7
ENST00000464524SACM1L-212571--- (aa)--
ENST00000433336SACM1L-203678-ENSP00000412883187 (aa)-C9JV50
Gene Model
Click here to download ENSG00000211456's gene model file
Pathways
Pathway IDPathway NameSource
hsa00562Inositol phosphate metabolismKEGG
hsa01100Metabolic pathwaysKEGG
hsa04070Phosphatidylinositol signaling systemKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000211456Lip1E-727560520
ENSG00000211456Antidepressive Agents5E-722041458
ENSG00000211456Bupropion5E-722041458
ENSG00000211456Sexual Dysfunctions, Psychological5E-722041458
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000211456rs71288019345710501CLip morphology27560520[0.32-0.71] unit increase0.5144EFO_0007845
ENSG00000211456rs2742417345689959TResponse to anti-depressant treatment in major depressive disorder22041458EFO_0006322|EFO_0006326|GO_0036276
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000211456's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000211456SACM1L9647.027YKL212WSAC19235.959Saccharomyces_cerevisiae
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000139Golgi membrane-TASComponent
GO:0004438phosphatidylinositol-3-phosphatase activity-TASFunction
GO:0005515protein binding14527956.IPIFunction
GO:0005783endoplasmic reticulum21873635.IBAComponent
GO:0005789endoplasmic reticulum membrane-ISSComponent
GO:0005789endoplasmic reticulum membrane-TASComponent
GO:0005794Golgi apparatus-IDAComponent
GO:0006661phosphatidylinositol biosynthetic process-TASProcess
GO:0016791phosphatase activity-ISSFunction
GO:0030176integral component of endoplasmic reticulum membrane-IEAComponent
GO:0032281AMPA glutamate receptor complex-IEAComponent
GO:0034593phosphatidylinositol bisphosphate phosphatase activity-IEAFunction
GO:0034596phosphatidylinositol phosphate 4-phosphatase activity-TASFunction
GO:0043812phosphatidylinositol-4-phosphate phosphatase activity21873635.IBAFunction
GO:0043812phosphatidylinositol-4-phosphate phosphatase activity24209621.IDAFunction
GO:0046856phosphatidylinositol dephosphorylation21873635.IBAProcess
GO:0046856phosphatidylinositol dephosphorylation24209621.IDAProcess
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