SMG9 (SMG9 nonsense mediated mRNA decay factor) - Rat Genome Database

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Gene: SMG9 (SMG9 nonsense mediated mRNA decay factor) Homo sapiens
Analyze
Symbol: SMG9
Name: SMG9 nonsense mediated mRNA decay factor
RGD ID: 1606789
HGNC Page HGNC:25763
Description: Enables identical protein binding activity. Involved in negative regulation of apoptotic process and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be located in cytosol. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C19orf61; DKFZp564H1322; F17127_1; FLJ12886; HBMS; NEDITPO; nonsense-mediated mRNA decay factor SMG9; protein smg-9 homolog; smg-9 homolog, nonsense mediated mRNA decay factor; SMG9, nonsense mediated mRNA decay factor
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
GRCh381943,727,983 - 43,754,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,727,983 - 43,754,962 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,232,135 - 44,259,114 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,927,141 - 48,950,982 (-)NCBINCBI36Build 36hg18NCBI36
Celera1941,038,878 - 41,062,719 (-)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,667,508 - 40,691,349 (-)NCBIHuRef
CHM1_11944,237,404 - 44,261,246 (-)NCBICHM1_1
T2T-CHM13v2.01946,550,715 - 46,577,698 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal facial shape  (IAGP)
Ankle clonus  (IAGP)
Anteverted nares  (IAGP)
Attached earlobe  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain atrophy  (IAGP)
Brainstem dysplasia  (IAGP)
Brisk reflexes  (IAGP)
Broad nasal tip  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cleft lip  (IAGP)
Congenital onset  (IAGP)
Dandy-Walker malformation  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Dextrotransposition of the great arteries  (IAGP)
Everted lower lip vermilion  (IAGP)
Frequent falls  (IAGP)
Gastroesophageal reflux  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand clenching  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Interrupted aortic arch  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limb hypertonia  (IAGP)
Long nose  (IAGP)
Low insertion of columella  (IAGP)
Low-set ears  (IAGP)
Lower limb hypertonia  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Narrow forehead  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Pes valgus  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent occiput  (IAGP)
Recurrent otitis media  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Thick lower lip vermilion  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SMG9 Serves as an Oncogene to Promote the Tumor Progression via EMT and Wnt/β-Catenin Signaling Pathway in Hepatocellular Carcinoma. Jin X, etal., Front Pharmacol. 2021 Aug 12;12:701454. doi: 10.3389/fphar.2021.701454. eCollection 2021.
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:8889548   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:16344560   PMID:19417104   PMID:20371770   PMID:20817927   PMID:21640080   PMID:21873635   PMID:25002321  
PMID:25220460   PMID:25416956   PMID:26496610   PMID:26638075   PMID:26841701   PMID:26972000   PMID:27018474   PMID:28514442   PMID:29395067   PMID:30902786   PMID:30995489   PMID:31091453  
PMID:31729466   PMID:31792449   PMID:32296183   PMID:32412169   PMID:32469312   PMID:32513696   PMID:32694731   PMID:33205750   PMID:33961781   PMID:34146907   PMID:34244565   PMID:34672954  
PMID:34761517   PMID:35087184   PMID:35321723   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36232890   PMID:37223481   PMID:37827155   PMID:39098523  


Genomics

Comparative Map Data
SMG9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,727,983 - 43,754,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,727,983 - 43,754,962 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,232,135 - 44,259,114 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,927,141 - 48,950,982 (-)NCBINCBI36Build 36hg18NCBI36
Celera1941,038,878 - 41,062,719 (-)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,667,508 - 40,691,349 (-)NCBIHuRef
CHM1_11944,237,404 - 44,261,246 (-)NCBICHM1_1
T2T-CHM13v2.01946,550,715 - 46,577,698 (-)NCBIT2T-CHM13v2.0
Smg9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,099,106 - 24,122,197 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl724,099,044 - 24,122,203 (+)EnsemblGRCm39 Ensembl
GRCm38724,397,517 - 24,422,777 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,399,619 - 24,422,778 (+)EnsemblGRCm38mm10GRCm38
MGSCv37725,184,647 - 25,207,796 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36724,108,388 - 24,131,537 (+)NCBIMGSCv36mm8
Celera719,024,019 - 19,047,134 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map710.54NCBI
Smg9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8189,116,459 - 89,139,182 (+)NCBIGRCr8
mRatBN7.2179,988,540 - 80,011,262 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,988,612 - 80,011,254 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx185,382,535 - 85,404,812 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0193,932,398 - 93,954,740 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0187,138,346 - 87,160,623 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0181,259,450 - 81,282,893 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl181,260,548 - 81,282,887 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0182,522,701 - 82,545,409 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4179,643,483 - 79,665,871 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1179,721,593 - 79,743,981 (+)NCBI
Celera174,443,398 - 74,465,698 (+)NCBICelera
Cytogenetic Map1q21NCBI
Smg9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555551,459,451 - 1,481,411 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555551,463,031 - 1,481,411 (-)NCBIChiLan1.0ChiLan1.0
SMG9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22049,893,534 - 49,917,912 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11951,766,169 - 51,790,323 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01940,679,952 - 40,704,104 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11949,285,796 - 49,309,980 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1949,285,796 - 49,309,980 (-)Ensemblpanpan1.1panPan2
SMG9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11111,416,396 - 111,438,069 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1111,416,624 - 111,435,575 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1110,896,422 - 110,918,120 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01111,989,720 - 112,011,420 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1111,989,712 - 112,008,913 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11111,614,917 - 111,634,006 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01111,248,775 - 111,270,459 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01112,132,811 - 112,154,512 (+)NCBIUU_Cfam_GSD_1.0
Smg9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,561,128 - 16,581,751 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936706908,867 - 929,305 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936706908,471 - 929,075 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMG9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl650,551,057 - 50,569,697 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1650,550,743 - 50,569,753 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,411,314 - 46,430,619 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMG9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1637,253,023 - 37,277,536 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl637,250,791 - 37,277,557 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607316,797,161 - 16,821,699 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smg9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249071,237,451 - 1,255,586 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249071,237,658 - 1,255,589 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMG9
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 copy number gain See cases [RCV000054151] Chr19:43338231..43853163 [GRCh38]
Chr19:43842383..44357315 [GRCh37]
Chr19:48534223..49049155 [NCBI36]
Chr19:19q13.31		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
NM_019108.4(SMG9):c.520_521del (p.Pro174fs) deletion Global developmental delay [RCV000210059]|Heart and brain malformation syndrome [RCV000210947] Chr19:43747509..43747510 [GRCh38]
Chr19:44251661..44251662 [GRCh37]
Chr19:19q13.31		 pathogenic|likely pathogenic
NM_019108.4(SMG9):c.701+4A>G single nucleotide variant Global developmental delay [RCV000210060]|Heart and brain malformation syndrome [RCV000210951]|not provided [RCV003137803] Chr19:43744768 [GRCh38]
Chr19:44248920 [GRCh37]
Chr19:19q13.31		 pathogenic|likely pathogenic|uncertain significance
NM_019108.4(SMG9):c.193C>T (p.Pro65Ser) single nucleotide variant not provided [RCV003314874] Chr19:43748010 [GRCh38]
Chr19:44252162 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_019108.4(SMG9):c.1235A>G (p.Asn412Ser) single nucleotide variant not provided [RCV003318140] Chr19:43733428 [GRCh38]
Chr19:44237580 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.458G>T (p.Gly153Val) single nucleotide variant Inborn genetic diseases [RCV003260335] Chr19:43747665 [GRCh38]
Chr19:44251817 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1249C>T (p.Leu417Phe) single nucleotide variant Inborn genetic diseases [RCV000624645] Chr19:43733414 [GRCh38]
Chr19:44237566 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln) single nucleotide variant Heart and brain malformation syndrome [RCV002501407]|not provided [RCV000884151] Chr19:43733682 [GRCh38]
Chr19:44237834 [GRCh37]
Chr19:19q13.31		 benign|likely benign
NM_019108.4(SMG9):c.1551C>T (p.Arg517=) single nucleotide variant not provided [RCV000902498] Chr19:43731608 [GRCh38]
Chr19:44235760 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.381T>A (p.Pro127=) single nucleotide variant not provided [RCV000975278] Chr19:43747742 [GRCh38]
Chr19:44251894 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.354C>G (p.Thr118=) single nucleotide variant not provided [RCV000943254] Chr19:43747769 [GRCh38]
Chr19:44251921 [GRCh37]
Chr19:19q13.31		 benign
NM_019108.4(SMG9):c.377C>T (p.Pro126Leu) single nucleotide variant not provided [RCV000906322] Chr19:43747746 [GRCh38]
Chr19:44251898 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.159C>T (p.Ser53=) single nucleotide variant not provided [RCV000901472] Chr19:43748044 [GRCh38]
Chr19:44252196 [GRCh37]
Chr19:19q13.31		 benign
NM_019108.4(SMG9):c.588+5C>T single nucleotide variant not provided [RCV000947968] Chr19:43747437 [GRCh38]
Chr19:44251589 [GRCh37]
Chr19:19q13.31		 benign
NM_019108.4(SMG9):c.22C>T (p.Gln8Ter) single nucleotide variant not provided [RCV003314845] Chr19:43750720 [GRCh38]
Chr19:44254872 [GRCh37]
Chr19:19q13.31		 likely pathogenic
NM_019108.4(SMG9):c.366C>T (p.Thr122=) single nucleotide variant not provided [RCV000918510] Chr19:43747757 [GRCh38]
Chr19:44251909 [GRCh37]
Chr19:19q13.31		 likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_019108.4(SMG9):c.939G>A (p.Thr313=) single nucleotide variant not provided [RCV000914679] Chr19:43737653 [GRCh38]
Chr19:44241805 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.658G>A (p.Val220Ile) single nucleotide variant Inborn genetic diseases [RCV004333274]|not provided [RCV003318141] Chr19:43744815 [GRCh38]
Chr19:44248967 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.588+7A>C single nucleotide variant not provided [RCV000900339] Chr19:43747435 [GRCh38]
Chr19:44251587 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1290G>A (p.Leu430=) single nucleotide variant not provided [RCV000886052] Chr19:43733373 [GRCh38]
Chr19:44237525 [GRCh37]
Chr19:19q13.31		 benign|likely benign
NM_019108.4(SMG9):c.435T>C (p.Pro145=) single nucleotide variant not provided [RCV000919476] Chr19:43747688 [GRCh38]
Chr19:44251840 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.226-5C>T single nucleotide variant not provided [RCV000932741] Chr19:43747902 [GRCh38]
Chr19:44252054 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1062A>C (p.Ser354=) single nucleotide variant not provided [RCV000901699] Chr19:43734429 [GRCh38]
Chr19:44238581 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.390T>A (p.Pro130=) single nucleotide variant not provided [RCV000982975] Chr19:43747733 [GRCh38]
Chr19:44251885 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.786A>G (p.Gln262=) single nucleotide variant not provided [RCV000911810] Chr19:43740134 [GRCh38]
Chr19:44244286 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.336C>T (p.Ala112=) single nucleotide variant not provided [RCV000911237] Chr19:43747787 [GRCh38]
Chr19:44251939 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter) single nucleotide variant Heart and brain malformation syndrome [RCV003152621]|Neurodevelopmental abnormality [RCV001264652] Chr19:43733659 [GRCh38]
Chr19:44237811 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.610dup (p.Val204fs) duplication not provided [RCV001268562] Chr19:43744862..43744863 [GRCh38]
Chr19:44249014..44249015 [GRCh37]
Chr19:19q13.31		 likely pathogenic
NM_019108.4(SMG9):c.701+46T>C single nucleotide variant Heart and brain malformation syndrome [RCV001807829]|not provided [RCV004717861] Chr19:43744726 [GRCh38]
Chr19:44248878 [GRCh37]
Chr19:19q13.31		 benign
NM_019108.4(SMG9):c.947A>G (p.His316Arg) single nucleotide variant Autism spectrum disorder [RCV001291442] Chr19:43737645 [GRCh38]
Chr19:44241797 [GRCh37]
Chr19:19q13.31		 association
NM_019108.4(SMG9):c.1211-2A>G single nucleotide variant Heart and brain malformation syndrome [RCV001335029] Chr19:43733454 [GRCh38]
Chr19:44237606 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.662T>C (p.Met221Thr) single nucleotide variant Heart and brain malformation syndrome [RCV001329718] Chr19:43744811 [GRCh38]
Chr19:44248963 [GRCh37]
Chr19:19q13.31		 uncertain significance
NC_000019.9:g.(?_44011002)_(45213778_?)dup duplication Ethylmalonic encephalopathy [RCV003116731] Chr19:44011002..45213778 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_019108.4(SMG9):c.551T>C (p.Val184Ala) single nucleotide variant Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV002274864] Chr19:43747479 [GRCh38]
Chr19:44251631 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.251C>A (p.Ala84Asp) single nucleotide variant Inborn genetic diseases [RCV003285060] Chr19:43747872 [GRCh38]
Chr19:44252024 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.530T>C (p.Met177Thr) single nucleotide variant Inborn genetic diseases [RCV003012913] Chr19:43747500 [GRCh38]
Chr19:44251652 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.308C>T (p.Pro103Leu) single nucleotide variant Inborn genetic diseases [RCV002879723] Chr19:43747815 [GRCh38]
Chr19:44251967 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1124G>A (p.Arg375His) single nucleotide variant Inborn genetic diseases [RCV002992696] Chr19:43733712 [GRCh38]
Chr19:44237864 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1067G>T (p.Gly356Val) single nucleotide variant Inborn genetic diseases [RCV002990218] Chr19:43734424 [GRCh38]
Chr19:44238576 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.133T>C (p.Trp45Arg) single nucleotide variant Inborn genetic diseases [RCV002689329] Chr19:43750609 [GRCh38]
Chr19:44254761 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.150+3G>A single nucleotide variant Inborn genetic diseases [RCV002687817] Chr19:43750589 [GRCh38]
Chr19:44254741 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.139A>G (p.Arg47Gly) single nucleotide variant Inborn genetic diseases [RCV002884824] Chr19:43750603 [GRCh38]
Chr19:44254755 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter) single nucleotide variant Inborn genetic diseases [RCV002692178] Chr19:43740133 [GRCh38]
Chr19:44244285 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.365C>A (p.Thr122Asn) single nucleotide variant Inborn genetic diseases [RCV002713741] Chr19:43747758 [GRCh38]
Chr19:44251910 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.382G>A (p.Ala128Thr) single nucleotide variant Inborn genetic diseases [RCV002645316] Chr19:43747741 [GRCh38]
Chr19:44251893 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1144C>T (p.Arg382Trp) single nucleotide variant Inborn genetic diseases [RCV002645305] Chr19:43733692 [GRCh38]
Chr19:44237844 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.226-3T>C single nucleotide variant Inborn genetic diseases [RCV002712597] Chr19:43747900 [GRCh38]
Chr19:44252052 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.247A>G (p.Thr83Ala) single nucleotide variant Inborn genetic diseases [RCV002802309] Chr19:43747876 [GRCh38]
Chr19:44252028 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.518C>T (p.Pro173Leu) single nucleotide variant Inborn genetic diseases [RCV002986837] Chr19:43747512 [GRCh38]
Chr19:44251664 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1352G>A (p.Ser451Asn) single nucleotide variant Inborn genetic diseases [RCV002719544] Chr19:43732990 [GRCh38]
Chr19:44237142 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.892A>G (p.Thr298Ala) single nucleotide variant Inborn genetic diseases [RCV002718010] Chr19:43738139 [GRCh38]
Chr19:44242291 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.527G>C (p.Arg176Pro) single nucleotide variant Inborn genetic diseases [RCV002722758] Chr19:43747503 [GRCh38]
Chr19:44251655 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.49C>T (p.Arg17Trp) single nucleotide variant Inborn genetic diseases [RCV003217732] Chr19:43750693 [GRCh38]
Chr19:44254845 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.106G>A (p.Gly36Ser) single nucleotide variant not provided [RCV003138538] Chr19:43750636 [GRCh38]
Chr19:44254788 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.109C>T (p.Arg37Trp) single nucleotide variant not provided [RCV003138539] Chr19:43750633 [GRCh38]
Chr19:44254785 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.611T>A (p.Val204Glu) single nucleotide variant Heart and brain malformation syndrome [RCV004764858]|not provided [RCV003138540] Chr19:43744862 [GRCh38]
Chr19:44249014 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.196A>G (p.Ile66Val) single nucleotide variant Inborn genetic diseases [RCV003178228]|not specified [RCV004690394] Chr19:43748007 [GRCh38]
Chr19:44252159 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.490C>T (p.Pro164Ser) single nucleotide variant Heart and brain malformation syndrome [RCV003338048] Chr19:43747633 [GRCh38]
Chr19:44251785 [GRCh37]
Chr19:19q13.31		 uncertain significance
NC_000019.9:g.(?_44232134)_(44259115_?)del deletion Heart and brain malformation syndrome [RCV003493331] Chr19:44232134..44259115 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser) single nucleotide variant Heart and brain malformation syndrome [RCV003756641] Chr19:43731651 [GRCh38]
Chr19:44235803 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.1244C>T (p.Pro415Leu) single nucleotide variant not provided [RCV003993035] Chr19:43733419 [GRCh38]
Chr19:44237571 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1071C>T (p.Ser357=) single nucleotide variant SMG9-related disorder [RCV003914752] Chr19:43734420 [GRCh38]
Chr19:44238572 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1464G>A (p.Thr488=) single nucleotide variant SMG9-related disorder [RCV003902200] Chr19:43732878 [GRCh38]
Chr19:44237030 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.585C>T (p.Ile195=) single nucleotide variant SMG9-related disorder [RCV003961576] Chr19:43747445 [GRCh38]
Chr19:44251597 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1275G>A (p.Glu425=) single nucleotide variant SMG9-related disorder [RCV003952165] Chr19:43733388 [GRCh38]
Chr19:44237540 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1209G>A (p.Lys403=) single nucleotide variant SMG9-related disorder [RCV003943998] Chr19:43733627 [GRCh38]
Chr19:44237779 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1102+9C>A single nucleotide variant SMG9-related disorder [RCV003957353] Chr19:43734380 [GRCh38]
Chr19:44238532 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.588+10G>A single nucleotide variant SMG9-related disorder [RCV003944547] Chr19:43747432 [GRCh38]
Chr19:44251584 [GRCh37]
Chr19:19q13.31		 likely benign
NM_019108.4(SMG9):c.1047C>T (p.His349=) single nucleotide variant SMG9-related disorder [RCV003914549] Chr19:43734444 [GRCh38]
Chr19:44238596 [GRCh37]
Chr19:19q13.31		 benign
NM_019108.4(SMG9):c.362G>T (p.Gly121Val) single nucleotide variant Inborn genetic diseases [RCV004461936] Chr19:43747761 [GRCh38]
Chr19:44251913 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.18del (p.His6fs) deletion not provided [RCV003993426] Chr19:43750724 [GRCh38]
Chr19:44254876 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.110G>A (p.Arg37Gln) single nucleotide variant Inborn genetic diseases [RCV004461930] Chr19:43750632 [GRCh38]
Chr19:44254784 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1379A>G (p.Tyr460Cys) single nucleotide variant Inborn genetic diseases [RCV004461932] Chr19:43732963 [GRCh38]
Chr19:44237115 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.248C>T (p.Thr83Ile) single nucleotide variant Inborn genetic diseases [RCV004461935] Chr19:43747875 [GRCh38]
Chr19:44252027 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1258G>C (p.Asp420His) single nucleotide variant Inborn genetic diseases [RCV004461931] Chr19:43733405 [GRCh38]
Chr19:44237557 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1420C>T (p.Arg474Trp) single nucleotide variant Inborn genetic diseases [RCV004461933] Chr19:43732922 [GRCh38]
Chr19:44237074 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1502G>A (p.Arg501Gln) single nucleotide variant Inborn genetic diseases [RCV004461934] Chr19:43731657 [GRCh38]
Chr19:44235809 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.751A>C (p.Asn251His) single nucleotide variant Inborn genetic diseases [RCV004461937] Chr19:43740169 [GRCh38]
Chr19:44244321 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.752A>G (p.Asn251Ser) single nucleotide variant Inborn genetic diseases [RCV004461938] Chr19:43740168 [GRCh38]
Chr19:44244320 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.708del (p.Thr235_Tyr236insTer) deletion not provided [RCV004592456] Chr19:43740212 [GRCh38]
Chr19:44244364 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1426C>T (p.Gln476Ter) single nucleotide variant Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV004587784] Chr19:43732916 [GRCh38]
Chr19:44237068 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.195del (p.Ile66fs) deletion Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV004699997] Chr19:43748008 [GRCh38]
Chr19:44252160 [GRCh37]
Chr19:19q13.31		 pathogenic
NM_019108.4(SMG9):c.496G>A (p.Val166Met) single nucleotide variant Inborn genetic diseases [RCV004667863] Chr19:43747534 [GRCh38]
Chr19:44251686 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.263C>T (p.Pro88Leu) single nucleotide variant Inborn genetic diseases [RCV004667864] Chr19:43747860 [GRCh38]
Chr19:44252012 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.392C>T (p.Ala131Val) single nucleotide variant Inborn genetic diseases [RCV004667865] Chr19:43747731 [GRCh38]
Chr19:44251883 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1390C>T (p.Pro464Ser) single nucleotide variant Inborn genetic diseases [RCV004667866] Chr19:43732952 [GRCh38]
Chr19:44237104 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.1033C>T (p.Pro345Ser) single nucleotide variant not specified [RCV004689498] Chr19:43734458 [GRCh38]
Chr19:44238610 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.964C>G (p.Gln322Glu) single nucleotide variant Inborn genetic diseases [RCV004667867] Chr19:43737628 [GRCh38]
Chr19:44241780 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_019108.4(SMG9):c.33C>T (p.Leu11=) single nucleotide variant SMG9-related disorder [RCV004757852] Chr19:43750709 [GRCh38]
Chr19:44254861 [GRCh37]
Chr19:19q13.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3793
Count of miRNA genes:1051
Interacting mature miRNAs:1320
Transcripts:ENST00000270066, ENST00000594081, ENST00000595700, ENST00000596714, ENST00000597586, ENST00000597598, ENST00000598860, ENST00000598886, ENST00000599804, ENST00000600097, ENST00000601170, ENST00000601925, ENST00000602222
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
406925686GWAS574662_Hdiastolic blood pressure, systolic blood pressure QTL GWAS574662 (human)0.0000002diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)194375455043754551Human
406904202GWAS553178_Hdiastolic blood pressure, systolic blood pressure QTL GWAS553178 (human)2e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)194375455043754551Human
407192622GWAS841598_Hmean corpuscular volume QTL GWAS841598 (human)2e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)194373854543738546Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406959727GWAS608703_Hnitric oxide exhalation measurement QTL GWAS608703 (human)0.000005nitric oxide exhalation measurement194373136543731366Human
407244968GWAS893944_Hbody height QTL GWAS893944 (human)5e-31body height (VT:0001253)body height (CMO:0000106)194373419543734196Human

Markers in Region
STS-R15751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,235,349 - 44,235,558UniSTSGRCh37
Build 361948,927,189 - 48,927,398RGDNCBI36
Celera1941,038,926 - 41,039,135RGD
Cytogenetic Map19q13.31UniSTS
HuRef1940,667,556 - 40,667,765UniSTS
GeneMap99-GB4 RH Map19250.04UniSTS
RH46988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,235,324 - 44,235,483UniSTSGRCh37
Build 361948,927,164 - 48,927,323RGDNCBI36
Celera1941,038,901 - 41,039,060RGD
Cytogenetic Map19q13.31UniSTS
HuRef1940,667,531 - 40,667,690UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
STS-F09576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,235,365 - 44,235,450UniSTSGRCh37
Build 361948,927,205 - 48,927,290RGDNCBI36
Celera1941,038,942 - 41,039,027RGD
Cytogenetic Map19q13.31UniSTS
HuRef1940,667,572 - 40,667,657UniSTS
GeneMap99-GB4 RH Map19245.11UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4973 1726 2351 6 624 1950 465 2269 7301 6469 52 3734 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ180848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA356912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY064986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY084349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000270066   ⟹   ENSP00000270066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,727,983 - 43,754,962 (-)Ensembl
Ensembl Acc Id: ENST00000594081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,733,344 - 43,734,079 (-)Ensembl
Ensembl Acc Id: ENST00000595700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,737,850 - 43,754,867 (-)Ensembl
Ensembl Acc Id: ENST00000596714   ⟹   ENSP00000470541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,777 - 43,754,601 (-)Ensembl
Ensembl Acc Id: ENST00000597586   ⟹   ENSP00000472684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,655 - 43,754,598 (-)Ensembl
Ensembl Acc Id: ENST00000597598   ⟹   ENSP00000471442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,734,460 - 43,747,734 (-)Ensembl
Ensembl Acc Id: ENST00000598860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,733,424 - 43,734,825 (-)Ensembl
Ensembl Acc Id: ENST00000598886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,797 - 43,754,922 (-)Ensembl
Ensembl Acc Id: ENST00000599804   ⟹   ENSP00000468941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,762 - 43,754,634 (-)Ensembl
Ensembl Acc Id: ENST00000600097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,731,390 - 43,733,110 (-)Ensembl
Ensembl Acc Id: ENST00000601170   ⟹   ENSP00000471398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,732,270 - 43,754,962 (-)Ensembl
Ensembl Acc Id: ENST00000601925   ⟹   ENSP00000470031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,677 - 43,754,627 (-)Ensembl
Ensembl Acc Id: ENST00000602222   ⟹   ENSP00000470451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,747,479 - 43,754,634 (-)Ensembl
RefSeq Acc Id: NM_019108   ⟹   NP_061981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,962 (-)NCBI
GRCh371944,232,851 - 44,259,142 (-)NCBI
Build 361948,927,141 - 48,950,982 (-)NCBI Archive
Celera1941,038,878 - 41,062,719 (-)RGD
HuRef1940,667,508 - 40,691,349 (-)RGD
CHM1_11944,237,404 - 44,261,246 (-)NCBI
T2T-CHM13v2.01946,550,715 - 46,577,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005259057   ⟹   XP_005259114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,962 (-)NCBI
GRCh371944,232,851 - 44,259,142 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527113   ⟹   XP_011525415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527114   ⟹   XP_011525416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527115   ⟹   XP_011525417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527116   ⟹   XP_011525418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,593 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439098   ⟹   XP_047295054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,754,593 (-)NCBI
RefSeq Acc Id: XM_047439099   ⟹   XP_047295055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,727,983 - 43,747,530 (-)NCBI
RefSeq Acc Id: XM_054321458   ⟹   XP_054177433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,577,698 (-)NCBI
RefSeq Acc Id: XM_054321459   ⟹   XP_054177434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,577,391 (-)NCBI
RefSeq Acc Id: XM_054321460   ⟹   XP_054177435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,577,370 (-)NCBI
RefSeq Acc Id: XM_054321461   ⟹   XP_054177436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,577,363 (-)NCBI
RefSeq Acc Id: XM_054321462   ⟹   XP_054177437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,577,337 (-)NCBI
RefSeq Acc Id: XM_054321463   ⟹   XP_054177438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,550,724 - 46,570,266 (-)NCBI
Protein Sequences
Protein RefSeqs NP_061981 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259114 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525415 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525416 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525417 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525418 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295054 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177438 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC17932 (Get FASTA)   NCBI Sequence Viewer  
  AAH08869 (Get FASTA)   NCBI Sequence Viewer  
  BAB14323 (Get FASTA)   NCBI Sequence Viewer  
  CAB66541 (Get FASTA)   NCBI Sequence Viewer  
  EAW57223 (Get FASTA)   NCBI Sequence Viewer  
  EAW57224 (Get FASTA)   NCBI Sequence Viewer  
  EAW57225 (Get FASTA)   NCBI Sequence Viewer  
  EAW57226 (Get FASTA)   NCBI Sequence Viewer  
  EAW57227 (Get FASTA)   NCBI Sequence Viewer  
  EAW57228 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000270066
  ENSP00000270066.6
  ENSP00000468941.1
  ENSP00000470031.1
  ENSP00000470451.1
  ENSP00000470541.1
  ENSP00000471398
  ENSP00000471398.1
  ENSP00000471442.1
  ENSP00000472684.1
GenBank Protein Q9H0W8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_061981   ⟸   NM_019108
- UniProtKB: O60429 (UniProtKB/Swiss-Prot),   Q9H9A9 (UniProtKB/Swiss-Prot),   Q9H0W8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259114   ⟸   XM_005259057
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525415   ⟸   XM_011527113
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525417   ⟸   XM_011527115
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525418   ⟸   XM_011527116
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525416   ⟸   XM_011527114
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000470541   ⟸   ENST00000596714
Ensembl Acc Id: ENSP00000472684   ⟸   ENST00000597586
Ensembl Acc Id: ENSP00000471442   ⟸   ENST00000597598
Ensembl Acc Id: ENSP00000468941   ⟸   ENST00000599804
Ensembl Acc Id: ENSP00000270066   ⟸   ENST00000270066
Ensembl Acc Id: ENSP00000470031   ⟸   ENST00000601925
Ensembl Acc Id: ENSP00000471398   ⟸   ENST00000601170
Ensembl Acc Id: ENSP00000470451   ⟸   ENST00000602222
RefSeq Acc Id: XP_047295054   ⟸   XM_047439098
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295055   ⟸   XM_047439099
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177433   ⟸   XM_054321458
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177434   ⟸   XM_054321459
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177435   ⟸   XM_054321460
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177436   ⟸   XM_054321461
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177437   ⟸   XM_054321462
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177438   ⟸   XM_054321463
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0W8-F1-model_v2 AlphaFold Q9H0W8 1-520 view protein structure

Promoters
RGD ID:7240267
Promoter ID:EPDNEW_H25879
Type:initiation region
Name:SMG9_1
Description:SMG9, 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_H25880  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,754,921 - 43,754,981EPDNEW
RGD ID:7240271
Promoter ID:EPDNEW_H25880
Type:initiation region
Name:SMG9_2
Description:SMG9, 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_H25879  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,755,197 - 43,755,257EPDNEW
RGD ID:6795241
Promoter ID:HG_KWN:30165
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:NM_019108,   UC002OXK.2,   UC010EIY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,950,626 - 48,951,622 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25763 AgrOrtholog
COSMIC SMG9 COSMIC
Ensembl Genes ENSG00000105771 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000270066 ENTREZGENE
  ENST00000270066.11 UniProtKB/Swiss-Prot
  ENST00000596714.1 UniProtKB/TrEMBL
  ENST00000597586.5 UniProtKB/TrEMBL
  ENST00000597598.1 UniProtKB/TrEMBL
  ENST00000599804.5 UniProtKB/TrEMBL
  ENST00000601170 ENTREZGENE
  ENST00000601170.5 UniProtKB/Swiss-Prot
  ENST00000601925.5 UniProtKB/TrEMBL
  ENST00000602222.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105771 GTEx
HGNC ID HGNC:25763 ENTREZGENE
Human Proteome Map SMG9 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMG9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56006 UniProtKB/Swiss-Prot
NCBI Gene 56006 ENTREZGENE
OMIM 613176 OMIM
PANTHER PROTEIN SMG9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14270 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162378734 PharmGKB
UniProt M0QX70_HUMAN UniProtKB/TrEMBL
  M0QYR7_HUMAN UniProtKB/TrEMBL
  M0QZC7_HUMAN UniProtKB/TrEMBL
  M0QZH1_HUMAN UniProtKB/TrEMBL
  M0R0U0_HUMAN UniProtKB/TrEMBL
  M0R2N0_HUMAN UniProtKB/TrEMBL
  O60429 ENTREZGENE
  Q9H0W8 ENTREZGENE
  Q9H9A9 ENTREZGENE
  SMG9_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O60429 UniProtKB/Swiss-Prot
  Q9H9A9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 SMG9  SMG9 nonsense mediated mRNA decay factor    SMG9, nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2016-05-10 SMG9  SMG9, nonsense mediated mRNA decay factor    SMG9 nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2013-07-09 SMG9  SMG9 nonsense mediated mRNA decay factor    smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)  Symbol and/or name change 5135510 APPROVED
2011-07-27 SMG9  smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)  C19orf61  chromosome 19 open reading frame 61  Symbol and/or name change 5135510 APPROVED