MLST8 (MTOR associated protein, LST8 homolog) - Rat Genome Database

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Gene: MLST8 (MTOR associated protein, LST8 homolog) Homo sapiens
Analyze
Symbol: MLST8
Name: MTOR associated protein, LST8 homolog
RGD ID: 736229
HGNC Page HGNC:24825
Description: Enables protein serine/threonine kinase activator activity. Involved in TORC1 signaling; positive regulation of TOR signaling; and regulation of actin cytoskeleton organization. Part of TORC1 complex and TORC2 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: G protein beta subunit like; G protein beta subunit-like; gable; GbetaL; GBL; LST8; mammalian lethal with SEC13 protein 8; MGC111011; POP3; target of rapamycin complex subunit LST8; TORC subunit LST8; WAT1
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
GRCh38162,205,454 - 2,209,453 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,204,248 - 2,209,453 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,255,455 - 2,259,454 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,195,451 - 2,199,419 (+)NCBINCBI36Build 36hg18NCBI36
Build 34162,195,495 - 2,199,414NCBI
Celera162,469,868 - 2,473,835 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,181,357 - 2,185,596 (+)NCBIHuRef
CHM1_1162,255,106 - 2,259,344 (+)NCBICHM1_1
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (TAS)
lysosomal membrane  (IEA)
lysosome  (IEA)
membrane  (IEA)
nucleoplasm  (TAS)
TORC1 complex  (IBA,IDA,IEA,IPI)
TORC2 complex  (IBA,IDA,IEA,IPI)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR. Kim DH, etal., Mol Cell. 2003 Apr;11(4):895-904.
2. mTOR signaling in growth control and disease. Laplante M and Sabatini DM, Cell. 2012 Apr 13;149(2):274-93. doi: 10.1016/j.cell.2012.03.017.
3. Molecular mechanisms of mTOR-mediated translational control. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11182770   PMID:12408816   PMID:12477932   PMID:12719976   PMID:14702039   PMID:15066126   PMID:15268862   PMID:15459249   PMID:15467718   PMID:15718470   PMID:15755954   PMID:15809305  
PMID:15854902   PMID:16183647   PMID:16344560   PMID:16798736   PMID:17041623   PMID:17277771   PMID:17461779   PMID:17565979   PMID:17991864   PMID:18030348   PMID:18235224   PMID:18504440  
PMID:18505677   PMID:18955708   PMID:19299511   PMID:19446321   PMID:19553685   PMID:20169205   PMID:20427287   PMID:20562859   PMID:20670887   PMID:21163940   PMID:21283628   PMID:21321085  
PMID:21454807   PMID:21460630   PMID:21873635   PMID:21981924   PMID:22017875   PMID:22084251   PMID:22258093   PMID:22307628   PMID:22658674   PMID:22810586   PMID:23275563   PMID:23423739  
PMID:23455924   PMID:23594158   PMID:24036451   PMID:24337580   PMID:24403073   PMID:24457600   PMID:25814554   PMID:25906254   PMID:25940091   PMID:26186194   PMID:26348909   PMID:26496610  
PMID:26673895   PMID:26678875   PMID:26787466   PMID:26972000   PMID:27173435   PMID:27244671   PMID:27909983   PMID:28283069   PMID:28475179   PMID:28489822   PMID:28514442   PMID:28643459  
PMID:28986522   PMID:29117863   PMID:29236692   PMID:29567957   PMID:29576527   PMID:29750193   PMID:30232230   PMID:30340022   PMID:31091453   PMID:31601764   PMID:31665642   PMID:32157528  
PMID:32166592   PMID:32433973   PMID:32495998   PMID:32694731   PMID:33001583   PMID:33452816   PMID:33472061   PMID:33545068   PMID:33742100   PMID:33961781   PMID:34171383   PMID:34373451  
PMID:34741373   PMID:35017646   PMID:35271311   PMID:35561222   PMID:35579750   PMID:35914814   PMID:35973513   PMID:36215168   PMID:37120454   PMID:38297188  


Genomics

Comparative Map Data
MLST8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,205,454 - 2,209,453 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,204,248 - 2,209,453 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,255,455 - 2,259,454 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,195,451 - 2,199,419 (+)NCBINCBI36Build 36hg18NCBI36
Build 34162,195,495 - 2,199,414NCBI
Celera162,469,868 - 2,473,835 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,181,357 - 2,185,596 (+)NCBIHuRef
CHM1_1162,255,106 - 2,259,344 (+)NCBICHM1_1
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBIT2T-CHM13v2.0
Mlst8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,692,524 - 24,698,722 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,692,525 - 24,698,052 (-)EnsemblGRCm39 Ensembl
GRCm381724,473,550 - 24,479,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,473,551 - 24,479,078 (-)EnsemblGRCm38mm10GRCm38
MGSCv371724,610,496 - 24,616,023 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,201,153 - 24,206,678 (-)NCBIMGSCv36mm8
Celera1724,989,327 - 24,994,854 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.39NCBI
Mlst8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,002,927 - 14,008,678 (-)NCBIGRCr8
mRatBN7.21013,498,377 - 13,504,128 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,498,388 - 13,504,128 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,244,945 - 18,250,695 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,733,790 - 17,739,540 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,232,975 - 13,238,725 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01013,839,250 - 13,845,001 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,839,250 - 13,845,001 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,656,236 - 13,661,987 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,725,510 - 13,731,261 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,725,520 - 13,731,261 (-)NCBI
Celera1013,178,857 - 13,184,608 (-)NCBICelera
Cytogenetic Map10q12NCBI
Mlst8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,056,363 - 15,060,300 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,056,363 - 15,060,300 (-)NCBIChiLan1.0ChiLan1.0
MLST8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,707,554 - 2,712,302 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,488,454 - 6,493,202 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0161,063,534 - 1,067,706 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,306,451 - 2,310,828 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,306,451 - 2,310,828 (+)Ensemblpanpan1.1panPan2
MLST8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,759,713 - 38,765,556 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,762,103 - 38,765,488 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,999,004 - 40,004,847 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,068,199 - 39,074,042 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,068,201 - 39,073,985 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,753,209 - 38,759,052 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,725,535 - 38,731,378 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,204,256 - 39,210,099 (-)NCBIUU_Cfam_GSD_1.0
Mlst8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,859,878 - 104,872,523 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,834,701 - 1,842,719 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366941,839,135 - 1,849,307 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MLST8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,778,754 - 39,788,285 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,778,746 - 39,786,206 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,394,842 - 42,398,552 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MLST8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.152,101,044 - 2,105,272 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl52,101,891 - 2,105,739 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606828,956,518 - 28,960,758 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mlst8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462491347,962 - 55,048 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462491350,622 - 54,643 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MLST8
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_001042371.2(PGP):c.663C>T (p.Ala221=) single nucleotide variant Malignant melanoma [RCV000062999] Chr16:2214031 [GRCh38]
Chr16:2264032 [GRCh37]
Chr16:2204033 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4 copy number gain See cases [RCV000240524] Chr16:2188712..2580690 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2077605_2284389dup duplication Endometrial carcinoma [RCV000588521] Chr16:2077605..2284389 [GRCh38]
Chr16:2127606..2334390 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2213879-2348394)x3 copy number gain See cases [RCV000445898] Chr16:2213879..2348394 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_022372.6(MLST8):c.13C>T (p.Pro5Ser) single nucleotide variant Inborn genetic diseases [RCV003268044] Chr16:2206098 [GRCh38]
Chr16:2256099 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
Single allele duplication not provided [RCV000677977] Chr16:2134202..2527088 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 copy number loss not provided [RCV000683746] Chr16:1734363..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 copy number gain not provided [RCV000738986] Chr16:1807896..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 copy number gain not provided [RCV000738989] Chr16:1813658..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2132731-2294549)x3 copy number gain not provided [RCV000738996] Chr16:2132731..2294549 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2132731-2311160)x3 copy number gain not provided [RCV000738997] Chr16:2132731..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2133701-2319717)x3 copy number gain not provided [RCV000738998] Chr16:2133701..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2140554-2311160)x3 copy number gain not provided [RCV000739001] Chr16:2140554..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2142103-2311160)x3 copy number gain not provided [RCV000739003] Chr16:2142103..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2142976-2311160)x3 copy number gain not provided [RCV000739004] Chr16:2142976..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2215858-2324303)x1 copy number loss not provided [RCV000739006] Chr16:2215858..2324303 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2301527)x3 copy number gain not provided [RCV000751524] Chr16:2130190..2301527 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2311160)x3 copy number gain not provided [RCV000751525] Chr16:2130190..2311160 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130190-2319717)x3 copy number gain not provided [RCV000751526] Chr16:2130190..2319717 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2130259-2319717)x3 copy number gain not provided [RCV000751528] Chr16:2130259..2319717 [GRCh37]
Chr16:16p13.3		 benign
NM_022372.6(MLST8):c.690C>G (p.Pro230=) single nucleotide variant Inborn genetic diseases [RCV003246043] Chr16:2208326 [GRCh38]
Chr16:2258327 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3 copy number gain not provided [RCV000845878] Chr16:2070917..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_022372.6(MLST8):c.396C>A (p.Asn132Lys) single nucleotide variant Inborn genetic diseases [RCV003274402] Chr16:2207086 [GRCh38]
Chr16:2257087 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3 copy number gain not provided [RCV002473837] Chr16:1942430..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
Single allele deletion Autosomal dominant polycystic kidney disease [RCV001256004] Chr16:2157801..2288100 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_2098597)_(2550979_?)dup duplication Developmental and epileptic encephalopathy, 1 [RCV001308310] Chr16:2098597..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1847662-2653144) copy number gain not specified [RCV002052502] Chr16:1847662..2653144 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 copy number gain not provided [RCV001827737] Chr16:1830141..2592737 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.2066081_2241220del deletion Tuberous sclerosis 2 [RCV002267196] Chr16:2066081..2241220 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.2047157_2220112del deletion Tuberous sclerosis 2 [RCV002267195] Chr16:2047157..2220112 [GRCh38]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1 copy number loss not provided [RCV002472534] Chr16:2021144..2266791 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_022372.6(MLST8):c.599C>T (p.Thr200Met) single nucleotide variant Inborn genetic diseases [RCV002749705] Chr16:2208235 [GRCh38]
Chr16:2258236 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.625A>G (p.Ile209Val) single nucleotide variant Inborn genetic diseases [RCV002738929] Chr16:2209424 [GRCh38]
Chr16:2259425 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_022372.6(MLST8):c.509A>C (p.Glu170Ala) single nucleotide variant Inborn genetic diseases [RCV002788847] Chr16:2207281 [GRCh38]
Chr16:2257282 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.607C>T (p.Arg203Trp) single nucleotide variant Inborn genetic diseases [RCV002665487] Chr16:2209442 [GRCh38]
Chr16:2259443 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_182563.4(BRICD5):c.644G>A (p.Ser215Asn) single nucleotide variant Inborn genetic diseases [RCV002920750] Chr16:2209405 [GRCh38]
Chr16:2259406 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_022372.6(MLST8):c.553A>G (p.Met185Val) single nucleotide variant Inborn genetic diseases [RCV002935634] Chr16:2207325 [GRCh38]
Chr16:2257326 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_022372.6(MLST8):c.155C>T (p.Pro52Leu) single nucleotide variant Inborn genetic diseases [RCV002678315] Chr16:2206383 [GRCh38]
Chr16:2256384 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1 copy number loss not specified [RCV003987202] Chr16:2130809..2285561 [GRCh37]
Chr16:16p13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12659
Count of miRNA genes:1141
Interacting mature miRNAs:1444
Transcripts:ENST00000301724, ENST00000301725, ENST00000382450, ENST00000397124, ENST00000561651, ENST00000562043, ENST00000562239, ENST00000562352, ENST00000562392, ENST00000562479, ENST00000562844, ENST00000562851, ENST00000563067, ENST00000563107, ENST00000563179, ENST00000564088, ENST00000564294, ENST00000564319, ENST00000564679, ENST00000565250, ENST00000565269, ENST00000565330, ENST00000565687, ENST00000565717, ENST00000565926, ENST00000566653, ENST00000566835, ENST00000567282, ENST00000567623, ENST00000567928, ENST00000568194, ENST00000568542, ENST00000569417, ENST00000569457, ENST00000569848, ENST00000570224
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
STS-W72364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37162,259,224 - 2,259,408UniSTSGRCh37
Build 36162,199,225 - 2,199,409RGDNCBI36
Celera162,473,641 - 2,473,825RGD
Cytogenetic Map16p13.3UniSTS
HuRef162,185,402 - 2,185,586UniSTS
GeneMap99-GB4 RH Map1662.83UniSTS


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 2411 2165 1594 499 1394 342 4331 2002 3565 397 1443 1559 170 1177 2771 3
Low 24 824 131 125 556 122 24 192 164 22 8 49 4 27 17 2 2
Below cutoff 2 1 1 1 4 8 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF195883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI857555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI933692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU117583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU121635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI761765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ014640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA382215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301724   ⟹   ENSP00000301724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,494 - 2,209,412 (+)Ensembl
RefSeq Acc Id: ENST00000382450   ⟹   ENSP00000371888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,204 - 2,209,396 (+)Ensembl
RefSeq Acc Id: ENST00000397124   ⟹   ENSP00000380313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,741 - 2,209,397 (+)Ensembl
RefSeq Acc Id: ENST00000561651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,481 - 2,208,492 (+)Ensembl
RefSeq Acc Id: ENST00000562043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,204,248 - 2,205,382 (+)Ensembl
RefSeq Acc Id: ENST00000562239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,207,827 - 2,208,538 (+)Ensembl
RefSeq Acc Id: ENST00000562352   ⟹   ENSP00000456944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,454 - 2,208,558 (+)Ensembl
RefSeq Acc Id: ENST00000562392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,207,586 - 2,209,392 (+)Ensembl
RefSeq Acc Id: ENST00000562479   ⟹   ENSP00000456046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,456 - 2,207,253 (+)Ensembl
RefSeq Acc Id: ENST00000562844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,456 - 2,207,297 (+)Ensembl
RefSeq Acc Id: ENST00000562851   ⟹   ENSP00000456063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,454 - 2,207,250 (+)Ensembl
RefSeq Acc Id: ENST00000563067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,206,029 - 2,209,370 (+)Ensembl
RefSeq Acc Id: ENST00000563107   ⟹   ENSP00000455475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,465 - 2,208,342 (+)Ensembl
RefSeq Acc Id: ENST00000563179   ⟹   ENSP00000455642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,204,596 - 2,206,381 (+)Ensembl
RefSeq Acc Id: ENST00000564088   ⟹   ENSP00000457870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,177 - 2,209,396 (+)Ensembl
RefSeq Acc Id: ENST00000564294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,450 - 2,206,880 (+)Ensembl
RefSeq Acc Id: ENST00000564319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,206,365 - 2,207,976 (+)Ensembl
RefSeq Acc Id: ENST00000564679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,484 - 2,206,820 (+)Ensembl
RefSeq Acc Id: ENST00000565250   ⟹   ENSP00000455046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,769 - 2,209,352 (+)Ensembl
RefSeq Acc Id: ENST00000565269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,457 - 2,206,723 (+)Ensembl
RefSeq Acc Id: ENST00000565330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,454 - 2,209,098 (+)Ensembl
RefSeq Acc Id: ENST00000565687   ⟹   ENSP00000454235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,481 - 2,208,612 (+)Ensembl
RefSeq Acc Id: ENST00000565717   ⟹   ENSP00000456076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,490 - 2,208,328 (+)Ensembl
RefSeq Acc Id: ENST00000565926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,204,647 - 2,205,470 (+)Ensembl
RefSeq Acc Id: ENST00000566653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,477 - 2,206,721 (+)Ensembl
RefSeq Acc Id: ENST00000566835   ⟹   ENSP00000455458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,731 - 2,209,416 (+)Ensembl
RefSeq Acc Id: ENST00000567282   ⟹   ENSP00000459612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,487 - 2,208,399 (+)Ensembl
RefSeq Acc Id: ENST00000567623   ⟹   ENSP00000455850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,454 - 2,207,326 (+)Ensembl
RefSeq Acc Id: ENST00000567928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,456 - 2,206,778 (+)Ensembl
RefSeq Acc Id: ENST00000568194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,471 - 2,209,397 (+)Ensembl
RefSeq Acc Id: ENST00000568542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,257 - 2,209,393 (+)Ensembl
RefSeq Acc Id: ENST00000569417   ⟹   ENSP00000456405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,454 - 2,209,453 (+)Ensembl
RefSeq Acc Id: ENST00000569457   ⟹   ENSP00000454698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,204,647 - 2,208,244 (+)Ensembl
RefSeq Acc Id: ENST00000569848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,206,518 - 2,207,547 (+)Ensembl
RefSeq Acc Id: ENST00000570224   ⟹   ENSP00000454629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,205,225 - 2,208,324 (+)Ensembl
RefSeq Acc Id: NM_001199173   ⟹   NP_001186102
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)ENTREZGENE
HuRef162,181,357 - 2,185,596 (+)ENTREZGENE
CHM1_1162,255,106 - 2,259,344 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199174   ⟹   NP_001186103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)ENTREZGENE
HuRef162,181,357 - 2,185,596 (+)ENTREZGENE
CHM1_1162,255,660 - 2,259,344 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199175   ⟹   NP_001186104
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)ENTREZGENE
HuRef162,181,357 - 2,185,596 (+)ENTREZGENE
CHM1_1162,255,106 - 2,259,344 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352057   ⟹   NP_001338986
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352059   ⟹   NP_001338988
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352060   ⟹   NP_001338989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022372   ⟹   NP_071767
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)ENTREZGENE
Build 36162,195,451 - 2,199,419 (+)NCBI Archive
Celera162,469,868 - 2,473,835 (+)RGD
HuRef162,181,357 - 2,185,596 (+)ENTREZGENE
CHM1_1162,255,106 - 2,259,344 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147904
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147905
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147906
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147907
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255475   ⟹   XP_005255532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255479   ⟹   XP_005255536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
GRCh37162,255,178 - 2,259,418 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434466   ⟹   XP_047290422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,209,453 (+)NCBI
RefSeq Acc Id: XM_047434467   ⟹   XP_047290423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,454 - 2,208,613 (+)NCBI
RefSeq Acc Id: XM_054313641   ⟹   XP_054169616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
RefSeq Acc Id: XM_054313642   ⟹   XP_054169617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
RefSeq Acc Id: XM_054313643   ⟹   XP_054169618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
RefSeq Acc Id: XM_054313644   ⟹   XP_054169619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,910 (+)NCBI
RefSeq Acc Id: XM_054313645   ⟹   XP_054169620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,070 (+)NCBI
RefSeq Acc Id: XM_054313646   ⟹   XP_054169621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,227,913 - 2,231,070 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186102 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186103 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186104 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338988 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338989 (Get FASTA)   NCBI Sequence Viewer  
  NP_071767 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255532 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255536 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290422 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290423 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054169621 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF04308 (Get FASTA)   NCBI Sequence Viewer  
  AAH01313 (Get FASTA)   NCBI Sequence Viewer  
  AAH17119 (Get FASTA)   NCBI Sequence Viewer  
  AAH52292 (Get FASTA)   NCBI Sequence Viewer  
  AAH88354 (Get FASTA)   NCBI Sequence Viewer  
  AAO73410 (Get FASTA)   NCBI Sequence Viewer  
  BAB13990 (Get FASTA)   NCBI Sequence Viewer  
  BAG51036 (Get FASTA)   NCBI Sequence Viewer  
  BAG63562 (Get FASTA)   NCBI Sequence Viewer  
  BAG65225 (Get FASTA)   NCBI Sequence Viewer  
  EAW85537 (Get FASTA)   NCBI Sequence Viewer  
  EAW85538 (Get FASTA)   NCBI Sequence Viewer  
  EAW85539 (Get FASTA)   NCBI Sequence Viewer  
  EAW85540 (Get FASTA)   NCBI Sequence Viewer  
  EAW85541 (Get FASTA)   NCBI Sequence Viewer  
  EAW85542 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000301724.10
  ENSP00000371888
  ENSP00000371888.4
  ENSP00000380313
  ENSP00000380313.1
  ENSP00000454235.1
  ENSP00000454629.1
  ENSP00000454698.1
  ENSP00000455046.1
  ENSP00000455458.1
  ENSP00000455475.1
  ENSP00000455642.1
  ENSP00000455850.1
  ENSP00000456046.1
  ENSP00000456063.1
  ENSP00000456076.1
  ENSP00000456405
  ENSP00000456405.1
  ENSP00000456944
  ENSP00000456944.1
  ENSP00000457870
  ENSP00000457870.1
  ENSP00000459612.1
GenBank Protein Q9BVC4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_071767   ⟸   NM_022372
- Peptide Label: isoform a
- UniProtKB: Q9HA66 (UniProtKB/Swiss-Prot),   Q8WUI5 (UniProtKB/Swiss-Prot),   Q86Y18 (UniProtKB/Swiss-Prot),   Q5M800 (UniProtKB/Swiss-Prot),   D3DU88 (UniProtKB/Swiss-Prot),   B4DY00 (UniProtKB/Swiss-Prot),   B3KMM4 (UniProtKB/Swiss-Prot),   Q9UJV6 (UniProtKB/Swiss-Prot),   Q9BVC4 (UniProtKB/Swiss-Prot),   H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186104   ⟸   NM_001199175
- Peptide Label: isoform b
- UniProtKB: H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186102   ⟸   NM_001199173
- Peptide Label: isoform a
- UniProtKB: Q9HA66 (UniProtKB/Swiss-Prot),   Q8WUI5 (UniProtKB/Swiss-Prot),   Q86Y18 (UniProtKB/Swiss-Prot),   Q5M800 (UniProtKB/Swiss-Prot),   D3DU88 (UniProtKB/Swiss-Prot),   B4DY00 (UniProtKB/Swiss-Prot),   B3KMM4 (UniProtKB/Swiss-Prot),   Q9UJV6 (UniProtKB/Swiss-Prot),   Q9BVC4 (UniProtKB/Swiss-Prot),   H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186103   ⟸   NM_001199174
- Peptide Label: isoform a
- UniProtKB: Q9HA66 (UniProtKB/Swiss-Prot),   Q8WUI5 (UniProtKB/Swiss-Prot),   Q86Y18 (UniProtKB/Swiss-Prot),   Q5M800 (UniProtKB/Swiss-Prot),   D3DU88 (UniProtKB/Swiss-Prot),   B4DY00 (UniProtKB/Swiss-Prot),   B3KMM4 (UniProtKB/Swiss-Prot),   Q9UJV6 (UniProtKB/Swiss-Prot),   Q9BVC4 (UniProtKB/Swiss-Prot),   H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255536   ⟸   XM_005255479
- Peptide Label: isoform X3
- UniProtKB: H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255532   ⟸   XM_005255475
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001338988   ⟸   NM_001352059
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001338986   ⟸   NM_001352057
- Peptide Label: isoform c
- UniProtKB: H3BSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001338989   ⟸   NM_001352060
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: ENSP00000456405   ⟸   ENST00000569417
RefSeq Acc Id: ENSP00000454698   ⟸   ENST00000569457
RefSeq Acc Id: ENSP00000454629   ⟸   ENST00000570224
RefSeq Acc Id: ENSP00000456063   ⟸   ENST00000562851
RefSeq Acc Id: ENSP00000456944   ⟸   ENST00000562352
RefSeq Acc Id: ENSP00000456046   ⟸   ENST00000562479
RefSeq Acc Id: ENSP00000455475   ⟸   ENST00000563107
RefSeq Acc Id: ENSP00000455642   ⟸   ENST00000563179
RefSeq Acc Id: ENSP00000457870   ⟸   ENST00000564088
RefSeq Acc Id: ENSP00000301724   ⟸   ENST00000301724
RefSeq Acc Id: ENSP00000455046   ⟸   ENST00000565250
RefSeq Acc Id: ENSP00000454235   ⟸   ENST00000565687
RefSeq Acc Id: ENSP00000456076   ⟸   ENST00000565717
RefSeq Acc Id: ENSP00000455458   ⟸   ENST00000566835
RefSeq Acc Id: ENSP00000455850   ⟸   ENST00000567623
RefSeq Acc Id: ENSP00000459612   ⟸   ENST00000567282
RefSeq Acc Id: ENSP00000371888   ⟸   ENST00000382450
RefSeq Acc Id: ENSP00000380313   ⟸   ENST00000397124
RefSeq Acc Id: XP_047290422   ⟸   XM_047434466
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290423   ⟸   XM_047434467
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054169619   ⟸   XM_054313644
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054169616   ⟸   XM_054313641
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054169617   ⟸   XM_054313642
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054169618   ⟸   XM_054313643
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054169620   ⟸   XM_054313645
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054169621   ⟸   XM_054313646
- Peptide Label: isoform X8
- UniProtKB: H3BPT1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVC4-F1-model_v2 AlphaFold Q9BVC4 1-326 view protein structure

Promoters
RGD ID:6793161
Promoter ID:HG_KWN:22782
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:OTTHUMT00000250763,   UC002COY.2,   UC002CPA.1,   UC002CPB.1,   UC002CPC.1,   UC002CPD.1,   UC002CPE.1,   UC002CPF.1,   UC002CPG.1,   UC002CPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,195,291 - 2,195,791 (+)MPROMDB
RGD ID:6850738
Promoter ID:EP73163
Type:initiation region
Name:HS_GBL
Description:G protein beta subunit-like.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,195,456 - 2,195,516EPD
RGD ID:7231001
Promoter ID:EPDNEW_H21247
Type:initiation region
Name:MLST8_2
Description:MTOR associated protein, LST8 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21248  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,242 - 2,205,302EPDNEW
RGD ID:7231005
Promoter ID:EPDNEW_H21248
Type:initiation region
Name:MLST8_1
Description:MTOR associated protein, LST8 homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21247  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,205,477 - 2,205,537EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24825 AgrOrtholog
COSMIC MLST8 COSMIC
Ensembl Genes ENSG00000167965 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301724 ENTREZGENE
  ENST00000301724.14 UniProtKB/TrEMBL
  ENST00000382450 ENTREZGENE
  ENST00000382450.8 UniProtKB/Swiss-Prot
  ENST00000397124 ENTREZGENE
  ENST00000397124.5 UniProtKB/Swiss-Prot
  ENST00000562352 ENTREZGENE
  ENST00000562352.5 UniProtKB/TrEMBL
  ENST00000562479.5 UniProtKB/TrEMBL
  ENST00000562851.5 UniProtKB/TrEMBL
  ENST00000563107.5 UniProtKB/TrEMBL
  ENST00000563179.5 UniProtKB/TrEMBL
  ENST00000564088 ENTREZGENE
  ENST00000564088.5 UniProtKB/Swiss-Prot
  ENST00000565250.1 UniProtKB/Swiss-Prot
  ENST00000565687.5 UniProtKB/TrEMBL
  ENST00000565717.5 UniProtKB/TrEMBL
  ENST00000566835 ENTREZGENE
  ENST00000566835.5 UniProtKB/TrEMBL
  ENST00000567282.5 UniProtKB/TrEMBL
  ENST00000567623.6 UniProtKB/TrEMBL
  ENST00000568542 ENTREZGENE
  ENST00000569417 ENTREZGENE
  ENST00000569417.6 UniProtKB/Swiss-Prot
  ENST00000569457.5 UniProtKB/TrEMBL
  ENST00000570224.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167965 GTEx
HGNC ID HGNC:24825 ENTREZGENE
Human Proteome Map MLST8 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MLST8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:64223 UniProtKB/Swiss-Prot
NCBI Gene 64223 ENTREZGENE
OMIM 612190 OMIM
PANTHER PTHR19842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TARGET OF RAPAMYCIN COMPLEX SUBUNIT LST8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165450213 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/TrEMBL
  SSF50998 UniProtKB/Swiss-Prot
UniProt A0A0A0MR05_HUMAN UniProtKB/TrEMBL
  B3KMM4 ENTREZGENE
  B4DY00 ENTREZGENE
  D3DU88 ENTREZGENE
  H3BM50_HUMAN UniProtKB/TrEMBL
  H3BN58_HUMAN UniProtKB/TrEMBL
  H3BPT1 ENTREZGENE, UniProtKB/TrEMBL
  H3BPU5_HUMAN UniProtKB/TrEMBL
  H3BQ74_HUMAN UniProtKB/TrEMBL
  H3BR25_HUMAN UniProtKB/TrEMBL
  H3BR38_HUMAN UniProtKB/TrEMBL
  H3BSZ4 ENTREZGENE, UniProtKB/TrEMBL
  I3L2E7_HUMAN UniProtKB/TrEMBL
  LST8_HUMAN UniProtKB/Swiss-Prot
  Q5M800 ENTREZGENE
  Q86Y18 ENTREZGENE
  Q8WUI5 ENTREZGENE
  Q9BVC4 ENTREZGENE
  Q9HA66 ENTREZGENE
  Q9UJV6 ENTREZGENE
UniProt Secondary B3KMM4 UniProtKB/Swiss-Prot
  B4DY00 UniProtKB/Swiss-Prot
  D3DU88 UniProtKB/Swiss-Prot
  Q5M800 UniProtKB/Swiss-Prot
  Q86Y18 UniProtKB/Swiss-Prot
  Q8WUI5 UniProtKB/Swiss-Prot
  Q9HA66 UniProtKB/Swiss-Prot
  Q9UJV6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 MLST8  MTOR associated protein, LST8 homolog    MTOR associated protein, LST8 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED