SMG7 (SMG7 nonsense mediated mRNA decay factor) - Rat Genome Database

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Gene: SMG7 (SMG7 nonsense mediated mRNA decay factor) Homo sapiens
Analyze
Symbol: SMG7
Name: SMG7 nonsense mediated mRNA decay factor
RGD ID: 1321852
HGNC Page HGNC:16792
Description: Enables protein phosphatase 2A binding activity and telomeric DNA binding activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: breast cancer-associated antigen SGA-56M; C1orf16; EST1 telomerase component homolog C; EST1-like protein C; EST1C; ever shorter telomeres 1C; FLJ23717; KIAA0250; nonsense-mediated mRNA decay factor SMG7; SGA56M; SMG-7; smg-7 homolog, nonsense mediated mRNA decay factor; SMG7, 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 ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,472,499 - 183,554,191 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,472,216 - 183,598,246 (+)EnsemblGRCh38hg38GRCh38
GRCh371183,441,634 - 183,523,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,708,257 - 181,789,949 (+)NCBINCBI36Build 36hg18NCBI36
Build 341180,173,290 - 180,254,982NCBI
Celera1156,552,563 - 156,634,375 (+)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1154,677,519 - 154,759,191 (+)NCBIHuRef
CHM1_11184,864,494 - 184,946,346 (+)NCBICHM1_1
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

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:9039502   PMID:11318611   PMID:12168954   PMID:12477932   PMID:12676087   PMID:12699629   PMID:14636577   PMID:14702039   PMID:15489334   PMID:15546618   PMID:15721257   PMID:16169070  
PMID:16344560   PMID:16452507   PMID:16488880   PMID:16710414   PMID:17081983   PMID:17916692   PMID:18029348   PMID:19299420   PMID:19322201   PMID:20237496   PMID:20371770   PMID:20930030  
PMID:21145460   PMID:21873635   PMID:23348841   PMID:25013172   PMID:25211080   PMID:25220460   PMID:25515538   PMID:25900982   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895  
PMID:26783109   PMID:26972000   PMID:27462439   PMID:27771886   PMID:27864472   PMID:27880917   PMID:28461625   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29395067  
PMID:29568061   PMID:29778605   PMID:29845934   PMID:30021884   PMID:30209976   PMID:30824926   PMID:30995489   PMID:31091453   PMID:31462741   PMID:31511540   PMID:31732746   PMID:31741433  
PMID:31753913   PMID:32344865   PMID:32602581   PMID:32694731   PMID:32908313   PMID:33820915   PMID:33916271   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34172724   PMID:34702444  
PMID:35140242   PMID:35271311   PMID:35509820   PMID:35511739   PMID:35803934   PMID:36232890   PMID:36538041   PMID:36543142   PMID:36674791   PMID:37689310   PMID:37827155   PMID:38280479  


Genomics

Comparative Map Data
SMG7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381183,472,499 - 183,554,191 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1183,472,216 - 183,598,246 (+)EnsemblGRCh38hg38GRCh38
GRCh371183,441,634 - 183,523,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361181,708,257 - 181,789,949 (+)NCBINCBI36Build 36hg18NCBI36
Build 341180,173,290 - 180,254,982NCBI
Celera1156,552,563 - 156,634,375 (+)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1154,677,519 - 154,759,191 (+)NCBIHuRef
CHM1_11184,864,494 - 184,946,346 (+)NCBICHM1_1
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBIT2T-CHM13v2.0
Smg7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391152,712,746 - 152,783,212 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1152,712,746 - 152,778,397 (-)EnsemblGRCm39 Ensembl
GRCm381152,836,995 - 152,903,130 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1152,836,995 - 152,902,646 (-)EnsemblGRCm38mm10GRCm38
MGSCv371154,684,125 - 154,749,776 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361154,599,213 - 154,664,840 (-)NCBIMGSCv36mm8
Celera1155,258,082 - 155,323,736 (-)NCBICelera
Cytogenetic Map1G3NCBI
cM Map165.07NCBI
Smg7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81367,536,016 - 67,600,624 (-)NCBIGRCr8
mRatBN7.21364,986,145 - 65,050,698 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1364,987,434 - 65,050,582 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1367,588,905 - 67,629,946 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01368,875,892 - 68,916,950 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01366,126,955 - 66,168,015 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01370,258,919 - 70,321,886 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1370,258,915 - 70,321,752 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01375,229,500 - 75,292,318 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41367,835,448 - 67,900,289 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11367,849,527 - 67,951,670 (-)NCBI
Celera1364,891,810 - 64,932,829 (-)NCBICelera
Cytogenetic Map13q21NCBI
Smg7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540622,273,298 - 22,352,782 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540622,273,298 - 22,352,782 (+)NCBIChiLan1.0ChiLan1.0
SMG7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2166,163,481 - 66,245,785 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,846,613 - 65,928,939 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01159,002,363 - 159,084,572 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11163,159,294 - 163,242,285 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1163,159,362 - 163,242,285 (+)Ensemblpanpan1.1panPan2
SMG7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1716,820,938 - 16,913,359 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl716,820,882 - 16,911,377 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha716,406,152 - 16,499,070 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0716,552,548 - 16,645,376 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl716,551,996 - 16,645,376 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1716,460,693 - 16,553,547 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0716,570,275 - 16,662,968 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0716,701,145 - 16,793,905 (+)NCBIUU_Cfam_GSD_1.0
Smg7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934488,481,369 - 88,558,329 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364816,326,010 - 6,405,074 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364816,326,211 - 6,405,067 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMG7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9124,697,093 - 124,775,964 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19124,696,432 - 124,775,739 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29137,052,343 - 137,105,730 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMG7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12545,808,384 - 45,895,605 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2545,805,689 - 45,866,852 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605547,025,227 - 47,114,190 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smg7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462481410,137,548 - 10,224,825 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462481410,135,733 - 10,224,991 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMG7
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_201569.2(SMG7):c.62-1415A>G single nucleotide variant Lung cancer [RCV000090093] Chr1:183514459 [GRCh38]
Chr1:183483594 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_201569.2(SMG7):c.2995+359C>G single nucleotide variant Lung cancer [RCV000090094] Chr1:183550282 [GRCh38]
Chr1:183519417 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1
pathogenic
NM_001174061.1(SMG7):c.3342C>T (p.Ser1114=) single nucleotide variant Malignant melanoma [RCV000060014] Chr1:183551835 [GRCh38]
Chr1:183520970 [GRCh37]
Chr1:181787593 [NCBI36]
Chr1:1q25.3
not provided
NM_201569.2(SMG7):c.1712C>T (p.Ser571Phe) single nucleotide variant Malignant melanoma [RCV000064376] Chr1:183544360 [GRCh38]
Chr1:183513495 [GRCh37]
Chr1:181780118 [NCBI36]
Chr1:1q25.3
not provided
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
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_001375584.1(SMG7):c.2956G>A (p.Gly986Arg) single nucleotide variant Inborn genetic diseases [RCV003258216] Chr1:183549271 [GRCh38]
Chr1:183518406 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.710G>A (p.Arg237Gln) single nucleotide variant Inborn genetic diseases [RCV003255453] Chr1:183529400 [GRCh38]
Chr1:183498535 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1925G>C (p.Ser642Thr) single nucleotide variant Inborn genetic diseases [RCV003279643] Chr1:183544435 [GRCh38]
Chr1:183513570 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.804G>T (p.Lys268Asn) single nucleotide variant Inborn genetic diseases [RCV003295067] Chr1:183529494 [GRCh38]
Chr1:183498629 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
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
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
NM_001375584.1(SMG7):c.3060G>T (p.Met1020Ile) single nucleotide variant Inborn genetic diseases [RCV003245862] Chr1:183549850 [GRCh38]
Chr1:183518985 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1067A>G (p.Tyr356Cys) single nucleotide variant Inborn genetic diseases [RCV003245664] Chr1:183533736 [GRCh38]
Chr1:183502871 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.83A>C (p.Glu28Ala) single nucleotide variant Inborn genetic diseases [RCV003246405] Chr1:183515895 [GRCh38]
Chr1:183485030 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.833A>G (p.Glu278Gly) single nucleotide variant Inborn genetic diseases [RCV003244028] Chr1:183529523 [GRCh38]
Chr1:183498658 [GRCh37]
Chr1:1q25.3
uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_001375584.1(SMG7):c.1034G>A (p.Cys345Tyr) single nucleotide variant Inborn genetic diseases [RCV003239714] Chr1:183533703 [GRCh38]
Chr1:183502838 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2228C>A (p.Pro743His) single nucleotide variant Inborn genetic diseases [RCV003239715] Chr1:183545170 [GRCh38]
Chr1:183514305 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1556G>T (p.Gly519Val) single nucleotide variant Inborn genetic diseases [RCV003252256] Chr1:183542216 [GRCh38]
Chr1:183511351 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_001375584.1(SMG7):c.2403G>A (p.Trp801Ter) single nucleotide variant Neurodevelopmental abnormality [RCV001264691] Chr1:183545998 [GRCh38]
Chr1:183515133 [GRCh37]
Chr1:1q25.3
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 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164) copy number gain not specified [RCV002053802] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NC_000001.10:g.(?_179520308)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2
pathogenic
NM_001375584.1(SMG7):c.933T>G (p.Phe311Leu) single nucleotide variant Inborn genetic diseases [RCV002751873] Chr1:183533253 [GRCh38]
Chr1:183502388 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3
pathogenic
NM_001375584.1(SMG7):c.2867C>T (p.Ala956Val) single nucleotide variant Inborn genetic diseases [RCV002836548] Chr1:183547227 [GRCh38]
Chr1:183516362 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1553A>G (p.Asp518Gly) single nucleotide variant Inborn genetic diseases [RCV002778527] Chr1:183542213 [GRCh38]
Chr1:183511348 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2860C>A (p.Pro954Thr) single nucleotide variant Inborn genetic diseases [RCV002849260] Chr1:183547220 [GRCh38]
Chr1:183516355 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.*1143T>C single nucleotide variant Inborn genetic diseases [RCV002799862] Chr1:183553074 [GRCh38]
Chr1:183522209 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2500T>A (p.Ser834Thr) single nucleotide variant Inborn genetic diseases [RCV002702273] Chr1:183546095 [GRCh38]
Chr1:183515230 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.77C>T (p.Pro26Leu) single nucleotide variant Inborn genetic diseases [RCV002827408] Chr1:183515889 [GRCh38]
Chr1:183485024 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2751G>T (p.Lys917Asn) single nucleotide variant Inborn genetic diseases [RCV002916111] Chr1:183547111 [GRCh38]
Chr1:183516246 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.136A>G (p.Thr46Ala) single nucleotide variant Inborn genetic diseases [RCV002802768] Chr1:183515948 [GRCh38]
Chr1:183485083 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1556G>A (p.Gly519Glu) single nucleotide variant Inborn genetic diseases [RCV002955666] Chr1:183542216 [GRCh38]
Chr1:183511351 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2314A>C (p.Thr772Pro) single nucleotide variant Inborn genetic diseases [RCV002696594] Chr1:183545256 [GRCh38]
Chr1:183514391 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1979G>C (p.Ser660Thr) single nucleotide variant Inborn genetic diseases [RCV002941502] Chr1:183544489 [GRCh38]
Chr1:183513624 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1661G>A (p.Arg554Gln) single nucleotide variant Inborn genetic diseases [RCV002961448] Chr1:183542321 [GRCh38]
Chr1:183511456 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2738T>G (p.Phe913Cys) single nucleotide variant Inborn genetic diseases [RCV002792830] Chr1:183546333 [GRCh38]
Chr1:183515468 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2710G>A (p.Glu904Lys) single nucleotide variant Inborn genetic diseases [RCV002921392] Chr1:183546305 [GRCh38]
Chr1:183515440 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2762T>G (p.Leu921Arg) single nucleotide variant Inborn genetic diseases [RCV002961465] Chr1:183547122 [GRCh38]
Chr1:183516257 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2668A>G (p.Ile890Val) single nucleotide variant Inborn genetic diseases [RCV002936676] Chr1:183546263 [GRCh38]
Chr1:183515398 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.938A>G (p.Asn313Ser) single nucleotide variant Inborn genetic diseases [RCV002965587] Chr1:183533258 [GRCh38]
Chr1:183502393 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1555G>C (p.Gly519Arg) single nucleotide variant Inborn genetic diseases [RCV002960573] Chr1:183542215 [GRCh38]
Chr1:183511350 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1008G>A (p.Met336Ile) single nucleotide variant Inborn genetic diseases [RCV002652610] Chr1:183533677 [GRCh38]
Chr1:183502812 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2671G>C (p.Asp891His) single nucleotide variant Inborn genetic diseases [RCV003295937] Chr1:183546266 [GRCh38]
Chr1:183515401 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2669T>C (p.Ile890Thr) single nucleotide variant Inborn genetic diseases [RCV003287119] Chr1:183546264 [GRCh38]
Chr1:183515399 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.1313A>G (p.Lys438Arg) single nucleotide variant Inborn genetic diseases [RCV003202335] Chr1:183541001 [GRCh38]
Chr1:183510136 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2632G>T (p.Ala878Ser) single nucleotide variant Inborn genetic diseases [RCV003194571] Chr1:183546227 [GRCh38]
Chr1:183515362 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.3268A>G (p.Arg1090Gly) single nucleotide variant Inborn genetic diseases [RCV003357774] Chr1:183550885 [GRCh38]
Chr1:183520020 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.*1145C>T single nucleotide variant Inborn genetic diseases [RCV003358829] Chr1:183553076 [GRCh38]
Chr1:183522211 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.3316T>A (p.Phe1106Ile) single nucleotide variant Inborn genetic diseases [RCV003345138] Chr1:183551056 [GRCh38]
Chr1:183520191 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2820T>G (p.Ile940Met) single nucleotide variant Inborn genetic diseases [RCV003370334] Chr1:183547180 [GRCh38]
Chr1:183516315 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.3060G>A (p.Met1020Ile) single nucleotide variant Inborn genetic diseases [RCV003367407] Chr1:183549850 [GRCh38]
Chr1:183518985 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_001375584.1(SMG7):c.2076A>G (p.Pro692=) single nucleotide variant not provided [RCV003421270] Chr1:183545018 [GRCh38]
Chr1:183514153 [GRCh37]
Chr1:1q25.3
likely benign
GRCh37/hg19 1q25.3(chr1:183494419-183633454)x1 copy number loss not specified [RCV003986395] Chr1:183494419..183633454 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3(chr1:183417292-183502236)x3 copy number gain not specified [RCV003986884] Chr1:183417292..183502236 [GRCh37]
Chr1:1q25.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5901
Count of miRNA genes:1138
Interacting mature miRNAs:1439
Transcripts:ENST00000347615, ENST00000367537, ENST00000367538, ENST00000419169, ENST00000440812, ENST00000444547, ENST00000456731, ENST00000493045, ENST00000493609, ENST00000495321, ENST00000502375, ENST00000507406, ENST00000507469, ENST00000507691, ENST00000508461, ENST00000515829
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH103387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,440,070 - 183,440,192UniSTSGRCh37
Build 361181,706,693 - 181,706,815RGDNCBI36
Celera1156,551,127 - 156,551,249RGD
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map1q25UniSTS
HuRef1154,676,083 - 154,676,205UniSTS
GeneMap99-GB4 RH Map1637.39UniSTS
RH120132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,445,397 - 183,445,669UniSTSGRCh37
Build 361181,712,020 - 181,712,292RGDNCBI36
Celera1156,556,454 - 156,556,726RGD
Cytogenetic Map1q25UniSTS
HuRef1154,681,407 - 154,681,679UniSTS
TNG Radiation Hybrid Map187115.0UniSTS
AL009653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,521,700 - 183,521,821UniSTSGRCh37
Build 361181,788,323 - 181,788,444RGDNCBI36
Celera1156,632,743 - 156,632,864RGD
Cytogenetic Map1q25UniSTS
HuRef1154,757,559 - 154,757,680UniSTS
D1S3351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,523,040 - 183,523,142UniSTSGRCh37
Build 361181,789,663 - 181,789,765RGDNCBI36
Celera1156,634,087 - 156,634,189RGD
Cytogenetic Map1q25UniSTS
HuRef1154,758,903 - 154,759,005UniSTS
GeneMap99-GB4 RH Map1629.33UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11565.2UniSTS
SHGC-75977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371183,522,027 - 183,522,250UniSTSGRCh37
Build 361181,788,650 - 181,788,873RGDNCBI36
Celera1156,633,070 - 156,633,293RGD
Cytogenetic Map1q25UniSTS
HuRef1154,757,886 - 154,758,109UniSTS
TNG Radiation Hybrid Map187141.0UniSTS
GeneMap99-GB4 RH Map1637.39UniSTS


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 2421 2609 1602 512 1841 354 4268 1913 3251 378 1453 1610 174 1 1199 2700 4 1
Low 18 382 124 112 110 111 89 284 483 41 7 3 1 5 88 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB085674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY386363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM152501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN479993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR995963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA057117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA096344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA238539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA629659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA773831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB223038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC380923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000347615   ⟹   ENSP00000340766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,502 - 183,554,186 (+)Ensembl
RefSeq Acc Id: ENST00000367537   ⟹   ENSP00000356507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,478 - 183,554,193 (+)Ensembl
RefSeq Acc Id: ENST00000367538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,567 - 183,516,086 (+)Ensembl
RefSeq Acc Id: ENST00000419169   ⟹   ENSP00000388390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,502 - 183,546,129 (+)Ensembl
RefSeq Acc Id: ENST00000440812   ⟹   ENSP00000410254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,216 - 183,529,014 (+)Ensembl
RefSeq Acc Id: ENST00000444547   ⟹   ENSP00000400220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,502 - 183,526,682 (+)Ensembl
RefSeq Acc Id: ENST00000493045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,548,941 - 183,550,088 (+)Ensembl
RefSeq Acc Id: ENST00000493609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,502,288 - 183,513,356 (+)Ensembl
RefSeq Acc Id: ENST00000495321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,550,835 - 183,598,246 (+)Ensembl
RefSeq Acc Id: ENST00000502375   ⟹   ENSP00000422056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,932 - 183,515,894 (+)Ensembl
RefSeq Acc Id: ENST00000507406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,518,616 - 183,529,517 (+)Ensembl
RefSeq Acc Id: ENST00000507469   ⟹   ENSP00000425133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,503 - 183,554,188 (+)Ensembl
RefSeq Acc Id: ENST00000507691   ⟹   ENSP00000422742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,500 - 183,526,646 (+)Ensembl
RefSeq Acc Id: ENST00000508461   ⟹   ENSP00000426915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,500 - 183,552,263 (+)Ensembl
RefSeq Acc Id: ENST00000515829   ⟹   ENSP00000421358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,527 - 183,554,190 (+)Ensembl
RefSeq Acc Id: ENST00000638826   ⟹   ENSP00000492670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,621 - 183,517,665 (+)Ensembl
RefSeq Acc Id: ENST00000685780   ⟹   ENSP00000508915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,500 - 183,554,174 (+)Ensembl
RefSeq Acc Id: ENST00000688051   ⟹   ENSP00000510175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1183,472,499 - 183,554,191 (+)Ensembl
RefSeq Acc Id: NM_001174061   ⟹   NP_001167532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
GRCh371183,441,506 - 183,523,328 (+)RGD
Celera1156,552,563 - 156,634,375 (+)RGD
HuRef1154,677,519 - 154,759,191 (+)ENTREZGENE
CHM1_11184,864,494 - 184,946,346 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001331007   ⟹   NP_001317936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350219   ⟹   NP_001337148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350220   ⟹   NP_001337149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350221   ⟹   NP_001337150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375584   ⟹   NP_001362513
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375585   ⟹   NP_001362514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394133   ⟹   NP_001381062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394134   ⟹   NP_001381063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394135   ⟹   NP_001381064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394136   ⟹   NP_001381065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394137   ⟹   NP_001381066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394138   ⟹   NP_001381067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394139   ⟹   NP_001381068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394140   ⟹   NP_001381069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394141   ⟹   NP_001381070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394142   ⟹   NP_001381071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394143   ⟹   NP_001381072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394144   ⟹   NP_001381073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394145   ⟹   NP_001381074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394146   ⟹   NP_001381075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394147   ⟹   NP_001381076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173156   ⟹   NP_775179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
GRCh371183,441,506 - 183,523,328 (+)RGD
Build 361181,708,257 - 181,789,949 (+)NCBI Archive
Celera1156,552,563 - 156,634,375 (+)RGD
HuRef1154,677,519 - 154,759,191 (+)ENTREZGENE
CHM1_11184,864,494 - 184,946,346 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201568   ⟹   NP_963862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
GRCh371183,441,506 - 183,523,328 (+)RGD
Build 361181,708,257 - 181,789,949 (+)NCBI Archive
Celera1156,552,563 - 156,634,375 (+)RGD
HuRef1154,677,519 - 154,759,191 (+)ENTREZGENE
CHM1_11184,864,494 - 184,946,346 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201569   ⟹   NP_963863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,499 - 183,554,191 (+)NCBI
GRCh371183,441,506 - 183,523,328 (+)RGD
Build 361181,708,257 - 181,789,949 (+)NCBI Archive
Celera1156,552,563 - 156,634,375 (+)RGD
HuRef1154,677,519 - 154,759,191 (+)ENTREZGENE
CHM1_11184,864,494 - 184,946,346 (+)NCBI
T2T-CHM13v2.01182,831,784 - 182,913,482 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245653   ⟹   XP_005245710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,502,317 - 183,554,191 (+)NCBI
GRCh371183,441,506 - 183,523,328 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510205   ⟹   XP_011508507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,473,722 - 183,554,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510206   ⟹   XP_011508508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,473,722 - 183,554,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510207   ⟹   XP_011508509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,473,722 - 183,554,191 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435741   ⟹   XP_047291697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,500,180 - 183,554,191 (+)NCBI
RefSeq Acc Id: XM_047435749   ⟹   XP_047291705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,527,713 - 183,554,191 (+)NCBI
RefSeq Acc Id: XM_054339881   ⟹   XP_054195856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,833,007 - 182,913,482 (+)NCBI
RefSeq Acc Id: XM_054339882   ⟹   XP_054195857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,833,007 - 182,913,482 (+)NCBI
RefSeq Acc Id: XM_054339883   ⟹   XP_054195858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,861,601 - 182,913,482 (+)NCBI
RefSeq Acc Id: XM_054339884   ⟹   XP_054195859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,833,007 - 182,913,482 (+)NCBI
RefSeq Acc Id: XM_054339885   ⟹   XP_054195860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,875,194 - 182,913,482 (+)NCBI
RefSeq Acc Id: XM_054339886   ⟹   XP_054195861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01182,887,001 - 182,913,482 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001167532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317936 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337148 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337149 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337150 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362513 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362514 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381063 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381064 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381065 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381076 (Get FASTA)   NCBI Sequence Viewer  
  NP_775179 (Get FASTA)   NCBI Sequence Viewer  
  NP_963862 (Get FASTA)   NCBI Sequence Viewer  
  NP_963863 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245710 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508507 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508508 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291697 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291705 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195856 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195857 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195858 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195859 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195860 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195861 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36381 (Get FASTA)   NCBI Sequence Viewer  
  AAH52565 (Get FASTA)   NCBI Sequence Viewer  
  AAR25620 (Get FASTA)   NCBI Sequence Viewer  
  BAA13381 (Get FASTA)   NCBI Sequence Viewer  
  BAB71079 (Get FASTA)   NCBI Sequence Viewer  
  BAC03672 (Get FASTA)   NCBI Sequence Viewer  
  BAC53621 (Get FASTA)   NCBI Sequence Viewer  
  BAG59692 (Get FASTA)   NCBI Sequence Viewer  
  BAG61224 (Get FASTA)   NCBI Sequence Viewer  
  EAW91154 (Get FASTA)   NCBI Sequence Viewer  
  EAW91155 (Get FASTA)   NCBI Sequence Viewer  
  EAW91156 (Get FASTA)   NCBI Sequence Viewer  
  EAW91157 (Get FASTA)   NCBI Sequence Viewer  
  EAW91158 (Get FASTA)   NCBI Sequence Viewer  
  EAW91159 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000340766
  ENSP00000340766.2
  ENSP00000356507
  ENSP00000356507.3
  ENSP00000388390.1
  ENSP00000400220.2
  ENSP00000410254.3
  ENSP00000421358
  ENSP00000421358.2
  ENSP00000422056.1
  ENSP00000425133
  ENSP00000425133.1
  ENSP00000426915
  ENSP00000426915.1
  ENSP00000508915
  ENSP00000508915.1
  ENSP00000510175
  ENSP00000510175.1
GenBank Protein Q92540 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_775179   ⟸   NM_173156
- Peptide Label: isoform 1
- UniProtKB: Q8IXC1 (UniProtKB/Swiss-Prot),   Q7Z7H9 (UniProtKB/Swiss-Prot),   Q6PIE0 (UniProtKB/Swiss-Prot),   Q5T1Q0 (UniProtKB/Swiss-Prot),   E9PEH2 (UniProtKB/Swiss-Prot),   E9PCI0 (UniProtKB/Swiss-Prot),   B4DRB2 (UniProtKB/Swiss-Prot),   Q8IXC2 (UniProtKB/Swiss-Prot),   Q92540 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963862   ⟸   NM_201568
- Peptide Label: isoform 2
- UniProtKB: Q92540 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167532   ⟸   NM_001174061
- Peptide Label: isoform 5
- UniProtKB: Q92540 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963863   ⟸   NM_201569
- Peptide Label: isoform 4
- UniProtKB: Q92540 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245710   ⟸   XM_005245653
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508507   ⟸   XM_011510205
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KSL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508508   ⟸   XM_011510206
- Peptide Label: isoform X2
- UniProtKB: E9PD50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508509   ⟸   XM_011510207
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001337149   ⟸   NM_001350220
- Peptide Label: isoform 8
- UniProtKB: A0A8I5KSL3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337150   ⟸   NM_001350221
- Peptide Label: isoform 6
- UniProtKB: E9PD50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337148   ⟸   NM_001350219
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001317936   ⟸   NM_001331007
- Peptide Label: isoform 6
- UniProtKB: E9PD50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362513   ⟸   NM_001375584
- Peptide Label: isoform 10
- UniProtKB: A0A8I5KYV3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362514   ⟸   NM_001375585
- Peptide Label: isoform 11
RefSeq Acc Id: ENSP00000422056   ⟸   ENST00000502375
RefSeq Acc Id: ENSP00000340766   ⟸   ENST00000347615
RefSeq Acc Id: ENSP00000492670   ⟸   ENST00000638826
RefSeq Acc Id: ENSP00000425133   ⟸   ENST00000507469
RefSeq Acc Id: ENSP00000422742   ⟸   ENST00000507691
RefSeq Acc Id: ENSP00000410254   ⟸   ENST00000440812
RefSeq Acc Id: ENSP00000426915   ⟸   ENST00000508461
RefSeq Acc Id: ENSP00000388390   ⟸   ENST00000419169
RefSeq Acc Id: ENSP00000400220   ⟸   ENST00000444547
RefSeq Acc Id: ENSP00000356507   ⟸   ENST00000367537
RefSeq Acc Id: ENSP00000421358   ⟸   ENST00000515829
RefSeq Acc Id: NP_001381063   ⟸   NM_001394134
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001381067   ⟸   NM_001394138
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001381069   ⟸   NM_001394140
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001381075   ⟸   NM_001394146
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001381074   ⟸   NM_001394145
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001381065   ⟸   NM_001394136
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001381066   ⟸   NM_001394137
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001381071   ⟸   NM_001394142
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001381062   ⟸   NM_001394133
- Peptide Label: isoform 8
- UniProtKB: A0A8I5KSL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001381064   ⟸   NM_001394135
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001381068   ⟸   NM_001394139
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001381073   ⟸   NM_001394144
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001381072   ⟸   NM_001394143
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001381070   ⟸   NM_001394141
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001381076   ⟸   NM_001394147
- Peptide Label: isoform 18
RefSeq Acc Id: ENSP00000508915   ⟸   ENST00000685780
RefSeq Acc Id: ENSP00000510175   ⟸   ENST00000688051
RefSeq Acc Id: XP_047291697   ⟸   XM_047435741
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KSL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047291705   ⟸   XM_047435749
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195856   ⟸   XM_054339881
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KSL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195857   ⟸   XM_054339882
- Peptide Label: isoform X2
- UniProtKB: E9PD50 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195859   ⟸   XM_054339884
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195858   ⟸   XM_054339883
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195860   ⟸   XM_054339885
- Peptide Label: isoform X5
- UniProtKB: Q6TV06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195861   ⟸   XM_054339886
- Peptide Label: isoform X4
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92540-F1-model_v2 AlphaFold Q92540 1-1137 view protein structure

Promoters
RGD ID:6786895
Promoter ID:HG_KWN:6498
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367538,   NM_001174061,   NM_173156,   NM_201568,   NM_201569,   OTTHUMT00000085433,   OTTHUMT00000085435,   OTTHUMT00000098684,   UC001GQI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361181,707,586 - 181,708,392 (+)MPROMDB
RGD ID:6858346
Promoter ID:EPDNEW_H2338
Type:initiation region
Name:SMG7_2
Description:SMG7, 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_H2339  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,471,422 - 183,471,482EPDNEW
RGD ID:6858348
Promoter ID:EPDNEW_H2339
Type:multiple initiation site
Name:SMG7_1
Description:SMG7, 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_H2338  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381183,472,507 - 183,472,567EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16792 AgrOrtholog
COSMIC SMG7 COSMIC
Ensembl Genes ENSG00000116698 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000347615 ENTREZGENE
  ENST00000347615.6 UniProtKB/Swiss-Prot
  ENST00000367537 ENTREZGENE
  ENST00000367537.7 UniProtKB/TrEMBL
  ENST00000419169.5 UniProtKB/TrEMBL
  ENST00000440812.7 UniProtKB/TrEMBL
  ENST00000444547.6 UniProtKB/TrEMBL
  ENST00000502375.1 UniProtKB/TrEMBL
  ENST00000507469 ENTREZGENE
  ENST00000507469.5 UniProtKB/Swiss-Prot
  ENST00000508461 ENTREZGENE
  ENST00000508461.5 UniProtKB/Swiss-Prot
  ENST00000515829 ENTREZGENE
  ENST00000515829.6 UniProtKB/Swiss-Prot
  ENST00000685780 ENTREZGENE
  ENST00000685780.1 UniProtKB/TrEMBL
  ENST00000688051 ENTREZGENE
  ENST00000688051.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116698 GTEx
HGNC ID HGNC:16792 ENTREZGENE
Human Proteome Map SMG7 Human Proteome Map
InterPro DNA/RNA-bd_Est1-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Est1/Ebs1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9887 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9887 ENTREZGENE
OMIM 610964 OMIM
PANTHER PROTEIN SMG7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15696 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EST1_DNA_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25605 PharmGKB
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KSL3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KYV3 ENTREZGENE, UniProtKB/TrEMBL
  B1ALB4_HUMAN UniProtKB/TrEMBL
  B4DRB2 ENTREZGENE
  D6R9J3_HUMAN UniProtKB/TrEMBL
  E9PBK2_HUMAN UniProtKB/TrEMBL
  E9PCI0 ENTREZGENE
  E9PD50 ENTREZGENE, UniProtKB/TrEMBL
  E9PEH2 ENTREZGENE
  E9PEK3_HUMAN UniProtKB/TrEMBL
  Q5T1Q0 ENTREZGENE
  Q6PIE0 ENTREZGENE
  Q6TV06 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z7H9 ENTREZGENE
  Q8IXC1 ENTREZGENE
  Q8IXC2 ENTREZGENE
  Q92540 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DRB2 UniProtKB/Swiss-Prot
  E9PCI0 UniProtKB/Swiss-Prot
  E9PEH2 UniProtKB/Swiss-Prot
  Q5T1Q0 UniProtKB/Swiss-Prot
  Q6PIE0 UniProtKB/Swiss-Prot
  Q7Z7H9 UniProtKB/Swiss-Prot
  Q8IXC1 UniProtKB/Swiss-Prot
  Q8IXC2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 SMG7  SMG7 nonsense mediated mRNA decay factor    SMG7, nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2016-05-10 SMG7  SMG7, nonsense mediated mRNA decay factor    SMG7 nonsense mediated mRNA decay factor  Symbol and/or name change 5135510 APPROVED
2013-07-09 SMG7  SMG7 nonsense mediated mRNA decay factor    smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)  Symbol and/or name change 5135510 APPROVED
2011-09-01 SMG7  smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)  SMG7  Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)  Symbol and/or name change 5135510 APPROVED