SMG5 (SMG5 nonsense mediated mRNA decay factor) - Rat Genome Database

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Gene: SMG5 (SMG5 nonsense mediated mRNA decay factor) Homo sapiens
Analyze
Symbol: SMG5
Name: SMG5 nonsense mediated mRNA decay factor
RGD ID: 1603683
HGNC Page HGNC:24644
Description: Enables enzyme binding activity and nucleic acid binding activity. Involved in regulation of dephosphorylation and regulation of telomere maintenance. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EST1 telomerase component homolog B; EST1-like protein B; EST1B; Est1p-like protein B; ever shorter telomeres 1B; FLJ12287; FLJ34864; hSMG-5; KIAA1089; LPTS interacting protein; LPTS-interacting protein; LPTS-RP1; LPTSRP1; nonsense-mediated mRNA decay factor SMG5; RP11-54H19.7; SMG-5; smg-5 homolog, nonsense mediated mRNA decay factor; SMG5, nonsense mediated mRNA decay factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC023245.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,249,224 - 156,291,516 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,249,224 - 156,282,825 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,219,015 - 156,261,307 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,485,639 - 154,519,244 (-)NCBINCBI36Build 36hg18NCBI36
Celera1129,291,997 - 129,325,601 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,580,113 - 127,613,290 (-)NCBIHuRef
CHM1_11157,614,993 - 157,648,597 (-)NCBICHM1_1
T2T-CHM13v2.01155,387,685 - 155,429,979 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (TAS)
nucleus  (IDA,IEA)
telomerase holoenzyme complex  (IBA)

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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:10470851   PMID:12168954   PMID:12477932   PMID:12676087   PMID:12699629   PMID:14636577   PMID:14702039   PMID:15489334   PMID:15546618   PMID:15721257   PMID:15824131   PMID:15857955  
PMID:16488880   PMID:16507993   PMID:16710414   PMID:16809764   PMID:17053788   PMID:17916692   PMID:19725029   PMID:20139978   PMID:20371770   PMID:20930030   PMID:21145460   PMID:21832049  
PMID:21873635   PMID:22658674   PMID:23348841   PMID:24647736   PMID:25013172   PMID:25211080   PMID:25609649   PMID:25900982   PMID:26638075   PMID:26972000   PMID:27473591   PMID:28514442  
PMID:29348139   PMID:29395067   PMID:30021884   PMID:31091453   PMID:32513696   PMID:32572027   PMID:33277362   PMID:33961781   PMID:34172724   PMID:34373451   PMID:34591612   PMID:35140242  
PMID:35748872   PMID:35831314   PMID:35914814   PMID:36215168   PMID:36232890   PMID:37699361   PMID:37936239  


Genomics

Comparative Map Data
SMG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,249,224 - 156,291,516 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,249,224 - 156,282,825 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,219,015 - 156,261,307 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,485,639 - 154,519,244 (-)NCBINCBI36Build 36hg18NCBI36
Celera1129,291,997 - 129,325,601 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,580,113 - 127,613,290 (-)NCBIHuRef
CHM1_11157,614,993 - 157,648,597 (-)NCBICHM1_1
T2T-CHM13v2.01155,387,685 - 155,429,979 (-)NCBIT2T-CHM13v2.0
Smg5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,242,050 - 88,269,645 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl388,243,567 - 88,269,645 (+)EnsemblGRCm39 Ensembl
GRCm38388,336,259 - 88,362,338 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,336,260 - 88,362,338 (+)EnsemblGRCm38mm10GRCm38
MGSCv37388,140,182 - 88,166,259 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,422,076 - 88,448,265 (+)NCBIMGSCv36mm8
Celera388,375,893 - 88,401,966 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.8NCBI
Smg5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,102,812 - 176,129,925 (+)NCBIGRCr8
mRatBN7.22173,804,987 - 173,832,102 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2173,805,019 - 173,832,102 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02187,708,247 - 187,735,355 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,708,234 - 187,735,355 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,110,275 - 207,138,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,448,782 - 180,475,237 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2167,749,851 - 167,776,844 (+)NCBICelera
Cytogenetic Map2q34NCBI
Smg5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,386,877 - 2,418,418 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,386,877 - 2,418,418 (-)NCBIChiLan1.0ChiLan1.0
SMG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,558,697 - 93,596,047 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1193,294,619 - 93,327,940 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,592,368 - 131,634,443 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,422,268 - 135,455,739 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,422,268 - 135,455,734 (-)Ensemblpanpan1.1panPan2
SMG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,598,111 - 41,624,575 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,598,104 - 41,624,575 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,086,046 - 41,112,528 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,462,624 - 41,489,187 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl741,462,689 - 41,494,389 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,244,007 - 41,270,487 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,297,221 - 41,323,693 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,581,284 - 41,607,773 (+)NCBIUU_Cfam_GSD_1.0
Smg5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,457,140 - 26,486,078 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365805,487,533 - 5,516,521 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365805,487,522 - 5,516,448 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,770,378 - 93,800,650 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,770,329 - 93,801,808 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,470,396 - 102,501,868 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMG5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,579,716 - 7,618,060 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl207,579,726 - 7,618,999 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660386,875,413 - 6,910,581 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smg5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248851,532,101 - 1,560,307 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248851,532,101 - 1,565,811 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMG5
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015327.2(SMG5):c.1646C>T (p.Pro549Leu) single nucleotide variant Malignant melanoma [RCV000064199] Chr1:156265990 [GRCh38]
Chr1:156235781 [GRCh37]
Chr1:154502405 [NCBI36]
Chr1:1q22		 not provided
NM_032323.3(TMEM79):c.614G>A (p.Gly205Glu) single nucleotide variant Inborn genetic diseases [RCV003186337] Chr1:156285840 [GRCh38]
Chr1:156255631 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q22(chr1:155834419-156434205)x3 copy number gain See cases [RCV000138885] Chr1:155834419..156434205 [GRCh38]
Chr1:155804210..156403997 [GRCh37]
Chr1:154070834..154670621 [NCBI36]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 copy number loss See cases [RCV000138561] Chr1:156256495..156681863 [GRCh38]
Chr1:156226286..156651655 [GRCh37]
Chr1:154492910..154918279 [NCBI36]
Chr1:1q22-23.1		 likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q22(chr1:156070888-156238593)x1 copy number loss See cases [RCV000599483] Chr1:156070888..156238593 [GRCh37]
Chr1:1q22		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_032323.3(TMEM79):c.802C>T (p.Arg268Trp) single nucleotide variant Inborn genetic diseases [RCV003247670] Chr1:156286304 [GRCh38]
Chr1:156256095 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.713A>G (p.Tyr238Cys) single nucleotide variant Inborn genetic diseases [RCV003288225] Chr1:156285939 [GRCh38]
Chr1:156255730 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.707T>C (p.Leu236Pro) single nucleotide variant Inborn genetic diseases [RCV003253627] Chr1:156285933 [GRCh38]
Chr1:156255724 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.845G>A (p.Arg282Gln) single nucleotide variant Inborn genetic diseases [RCV003261587] Chr1:156286347 [GRCh38]
Chr1:156256138 [GRCh37]
Chr1:1q22		 likely benign
NM_032323.3(TMEM79):c.658G>A (p.Ala220Thr) single nucleotide variant Inborn genetic diseases [RCV003264623] Chr1:156285884 [GRCh38]
Chr1:156255675 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
LMNA-NTRK1 fusion fusion Congenital fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1		 pathogenic
NM_015327.3(SMG5):c.714-5T>C single nucleotide variant not provided [RCV000923294] Chr1:156268420 [GRCh38]
Chr1:156238211 [GRCh37]
Chr1:1q22		 benign
NM_032323.3(TMEM79):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV000923295] Chr1:156285668 [GRCh38]
Chr1:156255459 [GRCh37]
Chr1:1q22		 likely benign
NM_032323.3(TMEM79):c.996C>T (p.Ala332=) single nucleotide variant not provided [RCV000902563] Chr1:156291409 [GRCh38]
Chr1:156261200 [GRCh37]
Chr1:1q22		 likely benign
NM_032323.3(TMEM79):c.771C>T (p.Tyr257=) single nucleotide variant not provided [RCV000918155] Chr1:156286273 [GRCh38]
Chr1:156256064 [GRCh37]
Chr1:1q22		 benign
NM_032323.3(TMEM79):c.618C>G (p.Ala206=) single nucleotide variant not provided [RCV000961308] Chr1:156285844 [GRCh38]
Chr1:156255635 [GRCh37]
Chr1:1q22		 benign
NM_015327.3(SMG5):c.2897C>T (p.Pro966Leu) single nucleotide variant Inborn genetic diseases [RCV003266494] Chr1:156250928 [GRCh38]
Chr1:156220719 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
GRCh37/hg19 1q22(chr1:156037369-156463980)x3 copy number gain not provided [RCV000846254] Chr1:156037369..156463980 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.1045C>G (p.Leu349Val) single nucleotide variant Inborn genetic diseases [RCV003249856] Chr1:156291458 [GRCh38]
Chr1:156261249 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.823C>T (p.Arg275Trp) single nucleotide variant Inborn genetic diseases [RCV003260039] Chr1:156286325 [GRCh38]
Chr1:156256116 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.844C>G (p.Arg282Gly) single nucleotide variant Inborn genetic diseases [RCV003273413] Chr1:156286346 [GRCh38]
Chr1:156256137 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.92G>A (p.Arg31Gln) single nucleotide variant not provided [RCV000886352] Chr1:156285318 [GRCh38]
Chr1:156255109 [GRCh37]
Chr1:1q22		 benign
NM_015327.3(SMG5):c.1627C>T (p.Arg543Trp) single nucleotide variant not provided [RCV000954070] Chr1:156266009 [GRCh38]
Chr1:156235800 [GRCh37]
Chr1:1q22		 benign
NM_032323.3(TMEM79):c.453A>G (p.Ala151=) single nucleotide variant not provided [RCV000902562] Chr1:156285679 [GRCh38]
Chr1:156255470 [GRCh37]
Chr1:1q22		 likely benign
NM_032323.3(TMEM79):c.668C>T (p.Pro223Leu) single nucleotide variant Inborn genetic diseases [RCV003302705] Chr1:156285894 [GRCh38]
Chr1:156255685 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.910T>C (p.Tyr304His) single nucleotide variant Inborn genetic diseases [RCV003300250] Chr1:156286412 [GRCh38]
Chr1:156256203 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q22(chr1:156034721-156240338) copy number gain not specified [RCV002053647] Chr1:156034721..156240338 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1		 pathogenic
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_032323.3(TMEM79):c.399C>G (p.Asp133Glu) single nucleotide variant Inborn genetic diseases [RCV003308460] Chr1:156285625 [GRCh38]
Chr1:156255416 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1697A>G (p.Asn566Ser) single nucleotide variant Inborn genetic diseases [RCV003305100] Chr1:156265939 [GRCh38]
Chr1:156235730 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1222A>G (p.Asn408Asp) single nucleotide variant Inborn genetic diseases [RCV002771755] Chr1:156266574 [GRCh38]
Chr1:156236365 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1802C>T (p.Ser601Leu) single nucleotide variant Inborn genetic diseases [RCV002686655] Chr1:156265834 [GRCh38]
Chr1:156235625 [GRCh37]
Chr1:1q22		 likely benign
NM_015327.3(SMG5):c.1070A>G (p.Gln357Arg) single nucleotide variant Inborn genetic diseases [RCV002728110] Chr1:156267517 [GRCh38]
Chr1:156237308 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.1078A>G (p.Met360Val) single nucleotide variant Inborn genetic diseases [RCV002990169] Chr1:156291491 [GRCh38]
Chr1:156261282 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1570G>A (p.Asp524Asn) single nucleotide variant Inborn genetic diseases [RCV002686596] Chr1:156266066 [GRCh38]
Chr1:156235857 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2948T>C (p.Val983Ala) single nucleotide variant Inborn genetic diseases [RCV002906102] Chr1:156250877 [GRCh38]
Chr1:156220668 [GRCh37]
Chr1:1q22		 likely benign
NM_015327.3(SMG5):c.1844C>T (p.Pro615Leu) single nucleotide variant Inborn genetic diseases [RCV002906856] Chr1:156265792 [GRCh38]
Chr1:156235583 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.401T>G (p.Leu134Arg) single nucleotide variant Inborn genetic diseases [RCV002946210] Chr1:156285627 [GRCh38]
Chr1:156255418 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.256G>A (p.Val86Ile) single nucleotide variant Inborn genetic diseases [RCV002773946] Chr1:156277966 [GRCh38]
Chr1:156247757 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.260C>T (p.Pro87Leu) single nucleotide variant Inborn genetic diseases [RCV002752888] Chr1:156285486 [GRCh38]
Chr1:156255277 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.11G>T (p.Gly4Val) single nucleotide variant Inborn genetic diseases [RCV002798038] Chr1:156282670 [GRCh38]
Chr1:156252461 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2333G>A (p.Arg778His) single nucleotide variant Inborn genetic diseases [RCV002924843] Chr1:156259114 [GRCh38]
Chr1:156228905 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.53C>T (p.Pro18Leu) single nucleotide variant Inborn genetic diseases [RCV002884390] Chr1:156285279 [GRCh38]
Chr1:156255070 [GRCh37]
Chr1:1q22		 likely benign
NM_015327.3(SMG5):c.1886G>T (p.Ser629Ile) single nucleotide variant Inborn genetic diseases [RCV002823292] Chr1:156263540 [GRCh38]
Chr1:156233331 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1996C>T (p.Arg666Trp) single nucleotide variant Inborn genetic diseases [RCV002760040] Chr1:156263430 [GRCh38]
Chr1:156233221 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.583C>T (p.Arg195Cys) single nucleotide variant Inborn genetic diseases [RCV002692423] Chr1:156285809 [GRCh38]
Chr1:156255600 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1142T>C (p.Ile381Thr) single nucleotide variant Inborn genetic diseases [RCV002781590] Chr1:156266654 [GRCh38]
Chr1:156236445 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.627T>G (p.Ile209Met) single nucleotide variant Inborn genetic diseases [RCV002848642] Chr1:156285853 [GRCh38]
Chr1:156255644 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.311G>A (p.Arg104Gln) single nucleotide variant Inborn genetic diseases [RCV002738597] Chr1:156277228 [GRCh38]
Chr1:156247019 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2528G>A (p.Ser843Asn) single nucleotide variant Inborn genetic diseases [RCV002768443] Chr1:156253053 [GRCh38]
Chr1:156222844 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1078A>G (p.Ile360Val) single nucleotide variant Inborn genetic diseases [RCV002986810] Chr1:156267509 [GRCh38]
Chr1:156237300 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV002766996] Chr1:156282664 [GRCh38]
Chr1:156252455 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.481C>T (p.Pro161Ser) single nucleotide variant Inborn genetic diseases [RCV002713424] Chr1:156285707 [GRCh38]
Chr1:156255498 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.1028G>C (p.Gly343Ala) single nucleotide variant Inborn genetic diseases [RCV002891751] Chr1:156291441 [GRCh38]
Chr1:156261232 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.694A>C (p.Met232Leu) single nucleotide variant Inborn genetic diseases [RCV002788127] Chr1:156285920 [GRCh38]
Chr1:156255711 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1654C>T (p.Leu552Phe) single nucleotide variant Inborn genetic diseases [RCV002708839] Chr1:156265982 [GRCh38]
Chr1:156235773 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.212G>T (p.Ser71Ile) single nucleotide variant Inborn genetic diseases [RCV002931760] Chr1:156285438 [GRCh38]
Chr1:156255229 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.932C>T (p.Ser311Leu) single nucleotide variant Inborn genetic diseases [RCV002891730] Chr1:156267655 [GRCh38]
Chr1:156237446 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.374C>T (p.Ala125Val) single nucleotide variant Inborn genetic diseases [RCV002652040] Chr1:156285600 [GRCh38]
Chr1:156255391 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.59C>T (p.Thr20Ile) single nucleotide variant Inborn genetic diseases [RCV002936474] Chr1:156282622 [GRCh38]
Chr1:156252413 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1247A>G (p.Asp416Gly) single nucleotide variant Inborn genetic diseases [RCV002940365] Chr1:156266549 [GRCh38]
Chr1:156236340 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.970C>T (p.Arg324Trp) single nucleotide variant Inborn genetic diseases [RCV002813618] Chr1:156286472 [GRCh38]
Chr1:156256263 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2798A>C (p.His933Pro) single nucleotide variant Inborn genetic diseases [RCV002898221] Chr1:156251433 [GRCh38]
Chr1:156221224 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2957G>T (p.Gly986Val) single nucleotide variant Inborn genetic diseases [RCV002897677] Chr1:156250868 [GRCh38]
Chr1:156220659 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1477T>C (p.Ser493Pro) single nucleotide variant Inborn genetic diseases [RCV002897491] Chr1:156266159 [GRCh38]
Chr1:156235950 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1591G>A (p.Glu531Lys) single nucleotide variant Inborn genetic diseases [RCV002719505] Chr1:156266045 [GRCh38]
Chr1:156235836 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.568G>A (p.Gly190Arg) single nucleotide variant Inborn genetic diseases [RCV002714678] Chr1:156285794 [GRCh38]
Chr1:156255585 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1114G>A (p.Ala372Thr) single nucleotide variant Inborn genetic diseases [RCV002832719] Chr1:156267473 [GRCh38]
Chr1:156237264 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.535G>A (p.Val179Met) single nucleotide variant Inborn genetic diseases [RCV002768901] Chr1:156285761 [GRCh38]
Chr1:156255552 [GRCh37]
Chr1:1q22		 uncertain significance
NM_032323.3(TMEM79):c.268G>C (p.Asp90His) single nucleotide variant Inborn genetic diseases [RCV002679841] Chr1:156285494 [GRCh38]
Chr1:156255285 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1834G>A (p.Val612Ile) single nucleotide variant Inborn genetic diseases [RCV003203801] Chr1:156265802 [GRCh38]
Chr1:156235593 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2666T>C (p.Ile889Thr) single nucleotide variant Inborn genetic diseases [RCV003193522] Chr1:156252501 [GRCh38]
Chr1:156222292 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.913G>A (p.Val305Met) single nucleotide variant Inborn genetic diseases [RCV003186070] Chr1:156267674 [GRCh38]
Chr1:156237465 [GRCh37]
Chr1:1q22		 likely benign
NM_015327.3(SMG5):c.2974C>G (p.Leu992Val) single nucleotide variant Inborn genetic diseases [RCV003208219] Chr1:156250664 [GRCh38]
Chr1:156220455 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2308C>T (p.Arg770Cys) single nucleotide variant Inborn genetic diseases [RCV003265511] Chr1:156259139 [GRCh38]
Chr1:156228930 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2869C>G (p.Leu957Val) single nucleotide variant Inborn genetic diseases [RCV003286902] Chr1:156250956 [GRCh38]
Chr1:156220747 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_032323.3(TMEM79):c.554C>A (p.Ser185Tyr) single nucleotide variant Inborn genetic diseases [RCV003374126] Chr1:156285780 [GRCh38]
Chr1:156255571 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1720A>T (p.Met574Leu) single nucleotide variant Inborn genetic diseases [RCV003361316] Chr1:156265916 [GRCh38]
Chr1:156235707 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.2861A>C (p.Gln954Pro) single nucleotide variant Inborn genetic diseases [RCV003369870] Chr1:156250964 [GRCh38]
Chr1:156220755 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.986C>T (p.Ser329Phe) single nucleotide variant Inborn genetic diseases [RCV003370398] Chr1:156267601 [GRCh38]
Chr1:156237392 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1378C>T (p.Arg460Cys) single nucleotide variant Inborn genetic diseases [RCV003350552] Chr1:156266258 [GRCh38]
Chr1:156236049 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1384C>T (p.Arg462Cys) single nucleotide variant Inborn genetic diseases [RCV003375893] Chr1:156266252 [GRCh38]
Chr1:156236043 [GRCh37]
Chr1:1q22		 uncertain significance
NM_015327.3(SMG5):c.1901G>A (p.Arg634His) single nucleotide variant Inborn genetic diseases [RCV003363999] Chr1:156263525 [GRCh38]
Chr1:156233316 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_032323.3(TMEM79):c.521G>T (p.Trp174Leu) single nucleotide variant Inborn genetic diseases [RCV003363515] Chr1:156285747 [GRCh38]
Chr1:156255538 [GRCh37]
Chr1:1q22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2762
Count of miRNA genes:941
Interacting mature miRNAs:1182
Transcripts:ENST00000361813, ENST00000368267, ENST00000468993, ENST00000473643, ENST00000476954, ENST00000489907
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.

Markers in Region
RH27735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711112,093,198 - 112,093,288UniSTSGRCh37
GRCh371156,219,681 - 156,219,771UniSTSGRCh37
Build 361154,486,305 - 154,486,395RGDNCBI36
Celera11109,246,432 - 109,246,522UniSTS
Celera1129,292,663 - 129,292,753RGD
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q22UniSTS
HuRef11108,018,757 - 108,018,847UniSTS
HuRef1127,580,779 - 127,580,869UniSTS
SHGC-37183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,246,549 - 156,246,698UniSTSGRCh37
Build 361154,513,173 - 154,513,322RGDNCBI36
Celera1129,319,530 - 129,319,679RGD
Cytogenetic Map1q21.2UniSTS
HuRef1127,607,219 - 127,607,368UniSTS
GeneMap99-G3 RH Map16018.0UniSTS
STS-F04957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374170,480,437 - 170,480,908UniSTSGRCh37
GRCh371156,236,702 - 156,236,785UniSTSGRCh37
Build 361154,503,326 - 154,503,409RGDNCBI36
Celera1129,309,683 - 129,309,766RGD
Celera4167,813,410 - 167,813,881UniSTS
Cytogenetic Map4q33UniSTS
Cytogenetic Map1q21.2UniSTS
HuRef4166,235,220 - 166,235,691UniSTS
HuRef1127,597,372 - 127,597,455UniSTS
GeneMap99-GB4 RH Map1561.97UniSTS


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 2439 2914 1715 614 1918 455 4357 2150 3703 415 1460 1612 175 1 1204 2788 6 2
Low 77 11 10 33 10 47 31 4 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB085691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY168922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY336728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT000143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361813   ⟹   ENSP00000355261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,249,224 - 156,282,825 (-)Ensembl
RefSeq Acc Id: ENST00000468993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,253,048 - 156,253,762 (-)Ensembl
RefSeq Acc Id: ENST00000473643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,251,079 - 156,252,555 (-)Ensembl
RefSeq Acc Id: ENST00000476954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,250,033 - 156,251,380 (-)Ensembl
RefSeq Acc Id: ENST00000489907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,266,137 - 156,267,588 (-)Ensembl
RefSeq Acc Id: NM_001323614   ⟹   NP_001310543
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,249,224 - 156,282,825 (-)NCBI
CHM1_11157,614,993 - 157,648,658 (-)NCBI
T2T-CHM13v2.01155,387,685 - 155,421,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323615   ⟹   NP_001310544
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,249,224 - 156,282,825 (-)NCBI
CHM1_11157,614,993 - 157,648,658 (-)NCBI
T2T-CHM13v2.01155,387,685 - 155,421,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323616   ⟹   NP_001310545
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,249,224 - 156,282,825 (-)NCBI
CHM1_11157,614,993 - 157,648,658 (-)NCBI
T2T-CHM13v2.01155,387,685 - 155,421,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323617   ⟹   NP_001310546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,249,224 - 156,291,516 (-)NCBI
CHM1_11157,614,993 - 157,657,248 (-)NCBI
T2T-CHM13v2.01155,387,685 - 155,429,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015327   ⟹   NP_056142
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,249,224 - 156,282,825 (-)NCBI
GRCh371156,219,015 - 156,252,676 (-)NCBI
Build 361154,485,639 - 154,519,244 (-)NCBI Archive
Celera1129,291,997 - 129,325,601 (-)RGD
HuRef1127,580,113 - 127,613,290 (-)ENTREZGENE
CHM1_11157,614,993 - 157,648,597 (-)NCBI
T2T-CHM13v2.01155,387,685 - 155,421,287 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_056142   ⟸   NM_015327
- Peptide Label: isoform 1
- UniProtKB: Q8IY09 (UniProtKB/Swiss-Prot),   Q8IXC0 (UniProtKB/Swiss-Prot),   Q659C7 (UniProtKB/Swiss-Prot),   Q5QJE7 (UniProtKB/Swiss-Prot),   D3DVB7 (UniProtKB/Swiss-Prot),   Q96IJ7 (UniProtKB/Swiss-Prot),   Q9UPR3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310546   ⟸   NM_001323617
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001310544   ⟸   NM_001323615
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001310543   ⟸   NM_001323614
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001310545   ⟸   NM_001323616
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000355261   ⟸   ENST00000361813
Protein Domains
PINc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPR3-F1-model_v2 AlphaFold Q9UPR3 1-1016 view protein structure

Promoters
RGD ID:6786891
Promoter ID:HG_KWN:5495
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000046312
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,487,366 - 154,488,487 (-)MPROMDB
RGD ID:6786892
Promoter ID:HG_KWN:5499
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:UC009WRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,502,281 - 154,502,857 (-)MPROMDB
RGD ID:6786896
Promoter ID:HG_KWN:5501
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:ENST00000357501,   NM_015327,   NR_026678,   OTTHUMT00000046309,   OTTHUMT00000052102,   UC001FOE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,518,246 - 154,519,387 (-)MPROMDB
RGD ID:6857568
Promoter ID:EPDNEW_H1949
Type:initiation region
Name:SMG5_1
Description:SMG5, nonsense mediated mRNA decay factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,282,825 - 156,282,885EPDNEW
RGD ID:6857620
Promoter ID:EPDNEW_H1952
Type:initiation region
Name:SMG5_2
Description:SMG5, nonsense mediated mRNA decay factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1949  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,291,488 - 156,291,548EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24644 AgrOrtholog
COSMIC SMG5 COSMIC
Ensembl Genes ENSG00000198952 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361813 ENTREZGENE
  ENST00000361813.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
  5'-nuclease UniProtKB/Swiss-Prot
GTEx ENSG00000198952 GTEx
HGNC ID HGNC:24644 ENTREZGENE
Human Proteome Map SMG5 Human Proteome Map
InterPro DNA/RNA-bd_Est1-type UniProtKB/Swiss-Prot
  EST1 UniProtKB/Swiss-Prot
  Est1/Ebs1-like UniProtKB/Swiss-Prot
  PIN_dom UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23381 UniProtKB/Swiss-Prot
NCBI Gene 23381 ENTREZGENE
OMIM 610962 OMIM
PANTHER NONSENSE-MEDIATED MRNA DECAY FACTOR SMG5 UniProtKB/Swiss-Prot
  PTHR15696 UniProtKB/Swiss-Prot
Pfam EST1 UniProtKB/Swiss-Prot
  EST1_DNA_bind UniProtKB/Swiss-Prot
  PIN_4 UniProtKB/Swiss-Prot
PharmGKB PA143485617 PharmGKB
SMART PINc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
UniProt D3DVB7 ENTREZGENE
  Q5QJE7 ENTREZGENE
  Q659C7 ENTREZGENE
  Q8IXC0 ENTREZGENE
  Q8IY09 ENTREZGENE
  Q96IJ7 ENTREZGENE
  Q9UPR3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DVB7 UniProtKB/Swiss-Prot
  Q5QJE7 UniProtKB/Swiss-Prot
  Q659C7 UniProtKB/Swiss-Prot
  Q8IXC0 UniProtKB/Swiss-Prot
  Q8IY09 UniProtKB/Swiss-Prot
  Q96IJ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 SMG5  SMG5 nonsense mediated mRNA decay factor    SMG5, nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2016-05-10 SMG5  SMG5, nonsense mediated mRNA decay factor    SMG5 nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2013-07-09 SMG5  SMG5 nonsense mediated mRNA decay factor    smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)  Symbol and/or name change 5135510 APPROVED
2011-09-01 SMG5  smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)  SMG5  Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)  Symbol and/or name change 5135510 APPROVED