SETD7 (SET domain containing 7, histone lysine methyltransferase) - Rat Genome Database

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Gene: SETD7 (SET domain containing 7, histone lysine methyltransferase) Homo sapiens
Analyze
Symbol: SETD7
Name: SET domain containing 7, histone lysine methyltransferase
RGD ID: 1606498
HGNC Page HGNC:30412
Description: Enables histone H3 methyltransferase activity; p53 binding activity; and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within DNA damage response and heterochromatin organization. Located in chromosome and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ21193; H3-K4-HMTase SETD7; histone H3-K4 methyltransferase SETD7; histone H3-lysine 4-specific methyltransferase; histone-lysine N-methyltransferase SETD7; KIAA1717; KMT7; lysine N-methyltransferase 7; SET domain containing (lysine methyltransferase) 7; SET domain containing 7, lysine methyltransferase; SET domain containing lysine methyltransferase 7; SET domain-containing protein 7; SET7; SET7/9; SET9
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
GRCh384139,492,974 - 139,556,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4139,495,941 - 139,606,699 (-)EnsemblGRCh38hg38GRCh38
GRCh374140,414,128 - 140,477,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,646,642 - 140,697,027 (-)NCBINCBI36Build 36hg18NCBI36
Celera4137,759,367 - 137,809,746 (-)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4136,156,561 - 136,206,720 (-)NCBIHuRef
CHM1_14140,404,455 - 140,454,786 (-)NCBICHM1_1
T2T-CHM13v2.04142,812,640 - 142,875,826 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IBA,IDA,IEA)
nucleolus  (IDA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
2. Fetal Alcohol Exposure Reduces Dopamine Receptor D2 and Increases Pituitary Weight and Prolactin Production via Epigenetic Mechanisms. Gangisetty O, etal., PLoS One. 2015 Oct 28;10(10):e0140699. doi: 10.1371/journal.pone.0140699. eCollection 2015.
3. Targeting protein lysine methylation and demethylation in cancers. He Y, etal., Acta Biochim Biophys Sin (Shanghai). 2012 Jan;44(1):70-9. doi: 10.1093/abbs/gmr109.
4. Modes of p53 regulation. Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Epigenetic histone methylation regulates transforming growth factor beta-1 expression following bile duct ligation in rats. Sheen-Chen SM, etal., J Gastroenterol. 2014 Aug;49(8):1285-97. doi: 10.1007/s00535-013-0892-0. Epub 2013 Oct 6.
Additional References at PubMed
PMID:11214970   PMID:11779497   PMID:11850410   PMID:12372304   PMID:12389038   PMID:12477932   PMID:12514135   PMID:12540855   PMID:12670868   PMID:15099517   PMID:15489334   PMID:15525938  
PMID:16415881   PMID:17108971   PMID:17166833   PMID:17573780   PMID:17646389   PMID:17707234   PMID:17805299   PMID:18408754   PMID:18471979   PMID:18474616   PMID:18650421   PMID:19247474  
PMID:19262565   PMID:19282482   PMID:19351588   PMID:19752191   PMID:19864627   PMID:20227660   PMID:20227666   PMID:20379614   PMID:20603083   PMID:20615470   PMID:20675860   PMID:21098664  
PMID:21115810   PMID:21119616   PMID:21131967   PMID:21151116   PMID:21245319   PMID:21273441   PMID:21320024   PMID:21454678   PMID:21859860   PMID:21873635   PMID:21896933   PMID:21988832  
PMID:22242964   PMID:22345554   PMID:22402663   PMID:22403242   PMID:22406368   PMID:22820736   PMID:22836579   PMID:22939629   PMID:23509280   PMID:23519668   PMID:23873758   PMID:24101509  
PMID:24129573   PMID:24875254   PMID:24981860   PMID:25042802   PMID:25124555   PMID:25472959   PMID:25609649   PMID:25637186   PMID:25681344   PMID:25954928   PMID:26116705   PMID:26186194  
PMID:26317544   PMID:26389662   PMID:26435321   PMID:26638075   PMID:26701885   PMID:26713889   PMID:26779630   PMID:26848522   PMID:26861389   PMID:26890252   PMID:26902152   PMID:27132511  
PMID:27146893   PMID:27183310   PMID:27235396   PMID:27292644   PMID:27880917   PMID:28417976   PMID:28514442   PMID:29117863   PMID:29222115   PMID:29383876   PMID:29384474   PMID:29499155  
PMID:29634390   PMID:29684621   PMID:29723250   PMID:29791485   PMID:30106440   PMID:30357346   PMID:30361067   PMID:30396921   PMID:30674889   PMID:30884312   PMID:31035088   PMID:31324717  
PMID:31751593   PMID:31863092   PMID:32102992   PMID:32120841   PMID:32126149   PMID:32178870   PMID:32320649   PMID:32323737   PMID:32994395   PMID:33336743   PMID:33564100   PMID:34079125  
PMID:34252487   PMID:34343833   PMID:34856916   PMID:35137483   PMID:35210392   PMID:35241646   PMID:35709329   PMID:35831314   PMID:35987950   PMID:36101480   PMID:36792079   PMID:36822329  
PMID:37043057   PMID:37549269   PMID:37564199   PMID:37682707   PMID:37870957   PMID:38018874   PMID:38043199   PMID:38520914   PMID:38602631   PMID:38803224  


Genomics

Comparative Map Data
SETD7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384139,492,974 - 139,556,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4139,495,941 - 139,606,699 (-)EnsemblGRCh38hg38GRCh38
GRCh374140,414,128 - 140,477,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,646,642 - 140,697,027 (-)NCBINCBI36Build 36hg18NCBI36
Celera4137,759,367 - 137,809,746 (-)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4136,156,561 - 136,206,720 (-)NCBIHuRef
CHM1_14140,404,455 - 140,454,786 (-)NCBICHM1_1
T2T-CHM13v2.04142,812,640 - 142,875,826 (-)NCBIT2T-CHM13v2.0
Setd7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39351,422,740 - 51,468,519 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl351,422,740 - 51,468,300 (-)EnsemblGRCm39 Ensembl
GRCm38351,515,318 - 51,560,823 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl351,515,319 - 51,560,879 (-)EnsemblGRCm38mm10GRCm38
MGSCv37351,319,240 - 51,364,745 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36351,603,247 - 51,648,752 (-)NCBIMGSCv36mm8
Celera351,246,288 - 51,292,035 (-)NCBICelera
Cytogenetic Map3CNCBI
cM Map322.5NCBI
Setd7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82137,713,545 - 137,756,319 (-)NCBIGRCr8
mRatBN7.22135,562,683 - 135,605,468 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2135,562,683 - 135,605,468 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2142,138,563 - 142,181,343 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02140,250,828 - 140,293,610 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02134,882,909 - 134,925,676 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02140,576,188 - 140,618,405 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2140,576,188 - 140,618,405 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02160,051,126 - 160,093,343 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42140,413,802 - 140,456,579 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2130,058,161 - 130,100,836 (-)NCBICelera
Cytogenetic Map2q26NCBI
Setd7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554284,131,103 - 4,178,250 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554284,131,431 - 4,178,250 (+)NCBIChiLan1.0ChiLan1.0
SETD7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23137,379,578 - 137,432,801 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14137,756,847 - 137,825,326 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04131,869,999 - 131,921,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14143,167,190 - 143,227,731 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4143,167,190 - 143,227,732 (-)Ensemblpanpan1.1panPan2
SETD7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,186,620 - 3,229,305 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,186,906 - 3,224,113 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,427,673 - 3,478,217 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0193,250,127 - 3,300,591 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl193,250,143 - 3,298,678 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,182,575 - 3,232,096 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,543,515 - 3,593,766 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0193,907,163 - 3,957,479 (+)NCBIUU_Cfam_GSD_1.0
Setd7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530150,657,144 - 50,705,771 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365358,094,178 - 8,137,580 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365358,094,479 - 8,143,108 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SETD7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl887,478,173 - 87,527,188 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1887,478,266 - 87,527,190 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2893,131,742 - 93,168,617 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SETD7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1786,476,101 - 86,528,146 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl786,481,726 - 86,527,779 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603765,998,142 - 66,050,297 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Setd7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477719,768,698 - 19,814,506 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477719,764,383 - 19,812,804 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SETD7
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 copy number loss See cases [RCV000051056] Chr4:128119872..142431375 [GRCh38]
Chr4:129041027..143352528 [GRCh37]
Chr4:129260477..143571978 [NCBI36]
Chr4:4q28.2-31.21
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1 copy number loss See cases [RCV000054074] Chr4:138370686..139672312 [GRCh38]
Chr4:139291840..140593466 [GRCh37]
Chr4:139511290..140812916 [NCBI36]
Chr4:4q28.3-31.1
uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.1(chr4:140472281-140477209)x1 copy number loss not provided [RCV000744014] Chr4:140472281..140477209 [GRCh37]
Chr4:4q31.1
benign
GRCh37/hg19 4q31.1(chr4:140476214-140477254)x1 copy number loss not provided [RCV000744015] Chr4:140476214..140477254 [GRCh37]
Chr4:4q31.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_030648.4(SETD7):c.66G>A (p.Pro22=) single nucleotide variant not provided [RCV000968044] Chr4:139547024 [GRCh38]
Chr4:140468178 [GRCh37]
Chr4:4q31.1
benign
GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1 copy number loss not provided [RCV001005599] Chr4:137901978..141527647 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1 copy number loss not provided [RCV000847693] Chr4:134054911..142601496 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3 copy number gain not provided [RCV001005601] Chr4:140024115..140457430 [GRCh37]
Chr4:4q31.1
likely benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930) copy number gain not specified [RCV002053457] Chr4:136035308..144718930 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1 copy number loss not provided [RCV001833074] Chr4:136529470..141564812 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1 copy number loss not provided [RCV001834392] Chr4:138289049..145923298 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
NM_030648.4(SETD7):c.629C>T (p.Pro210Leu) single nucleotide variant not specified [RCV004078338] Chr4:139523369 [GRCh38]
Chr4:140444523 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_030648.4(SETD7):c.916G>A (p.Asp306Asn) single nucleotide variant not specified [RCV004192891] Chr4:139517889 [GRCh38]
Chr4:140439043 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_030648.4(SETD7):c.343C>T (p.Arg115Cys) single nucleotide variant not specified [RCV004141745] Chr4:139533194 [GRCh38]
Chr4:140454348 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_030648.4(SETD7):c.863G>C (p.Cys288Ser) single nucleotide variant not specified [RCV004240141] Chr4:139517942 [GRCh38]
Chr4:140439096 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_030648.4(SETD7):c.912C>G (p.Ile304Met) single nucleotide variant not specified [RCV004201598] Chr4:139517893 [GRCh38]
Chr4:140439047 [GRCh37]
Chr4:4q31.1
uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3
pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2
pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_030648.4(SETD7):c.217G>A (p.Val73Ile) single nucleotide variant not specified [RCV004455578] Chr4:139533320 [GRCh38]
Chr4:140454474 [GRCh37]
Chr4:4q31.1
uncertain significance
NM_030648.4(SETD7):c.908G>C (p.Cys303Ser) single nucleotide variant not specified [RCV004455580] Chr4:139517897 [GRCh38]
Chr4:140439051 [GRCh37]
Chr4:4q31.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4732
Count of miRNA genes:1341
Interacting mature miRNAs:1802
Transcripts:ENST00000274031, ENST00000404104, ENST00000406354, ENST00000506866, ENST00000515101, ENST00000608795, ENST00000608958
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407093249GWAS742225_Hsensory perception of taste QTL GWAS742225 (human)0.000004sensory perception of taste4139545450139545451Human
407024257GWAS673233_Hsmoking behavior QTL GWAS673233 (human)0.000008smoking behavior4139501980139501981Human
407267472GWAS916448_Hamino acid measurement QTL GWAS916448 (human)0.000001amino acid measurement4139545450139545451Human
407050027GWAS699003_Hlycopene measurement QTL GWAS699003 (human)5e-09lycopene measurement4139525951139525952Human
406952061GWAS601037_Hdiastolic blood pressure, trait in response to thiazide, response to beta blocker QTL GWAS601037 (human)0.0000003diastolic blood pressure, trait in response to thiazide, response to beta blockerdiastolic blood pressure (CMO:0000005)4139543924139543925Human

Markers in Region
D4S3221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,427,210 - 140,427,386UniSTSGRCh37
Build 364140,646,660 - 140,646,836RGDNCBI36
Celera4137,759,385 - 137,759,561RGD
Cytogenetic Map4q28UniSTS
HuRef4136,156,579 - 136,156,755UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S2472E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,431,841 - 140,431,960UniSTSGRCh37
Build 364140,651,291 - 140,651,410RGDNCBI36
Celera4137,764,000 - 137,764,119RGD
Cytogenetic Map4q28UniSTS
HuRef4136,161,194 - 136,161,313UniSTS
TNG Radiation Hybrid Map484842.0UniSTS
Stanford-G3 RH Map47678.0UniSTS
GeneMap99-GB4 RH Map4610.26UniSTS
NCBI RH Map41415.5UniSTS
GeneMap99-G3 RH Map47603.0UniSTS
G41977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,476,179 - 140,476,391UniSTSGRCh37
Build 364140,695,629 - 140,695,841RGDNCBI36
Celera4137,808,348 - 137,808,560RGD
Cytogenetic Map4q28UniSTS
HuRef4136,205,322 - 136,205,534UniSTS
TNG Radiation Hybrid Map484864.0UniSTS
G33847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,431,846 - 140,432,125UniSTSGRCh37
Build 364140,651,296 - 140,651,575RGDNCBI36
Celera4137,764,005 - 137,764,284RGD
Cytogenetic Map4q28UniSTS
HuRef4136,161,199 - 136,161,478UniSTS
D4S2475E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,428,779 - 140,428,906UniSTSGRCh37
Build 364140,648,229 - 140,648,356RGDNCBI36
Celera4137,760,954 - 137,761,081RGD
Cytogenetic Map4q28UniSTS
HuRef4136,158,148 - 136,158,275UniSTS
TNG Radiation Hybrid Map484831.0UniSTS
Stanford-G3 RH Map47683.0UniSTS
NCBI RH Map41417.0UniSTS
GeneMap99-G3 RH Map47608.0UniSTS
SHGC-67728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,427,953 - 140,428,110UniSTSGRCh37
Build 364140,647,403 - 140,647,560RGDNCBI36
Celera4137,760,128 - 137,760,285RGD
Cytogenetic Map4q28UniSTS
HuRef4136,157,322 - 136,157,479UniSTS
GeneMap99-GB4 RH Map4610.36UniSTS
1976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,432,582 - 140,432,684UniSTSGRCh37
Build 364140,652,032 - 140,652,134RGDNCBI36
Celera4137,764,741 - 137,764,843RGD
Cytogenetic Map4q28UniSTS
HuRef4136,161,935 - 136,162,037UniSTS
GeneMap99-GB4 RH Map4612.19UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001306199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_131339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF462150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI985614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM922680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000274031   ⟹   ENSP00000274031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,506,038 - 139,556,219 (-)Ensembl
Ensembl Acc Id: ENST00000404104   ⟹   ENSP00000385913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,532,579 - 139,556,769 (-)Ensembl
Ensembl Acc Id: ENST00000406354   ⟹   ENSP00000384336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,532,582 - 139,556,208 (-)Ensembl
Ensembl Acc Id: ENST00000506866   ⟹   ENSP00000427300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,495,941 - 139,556,238 (-)Ensembl
Ensembl Acc Id: ENST00000515101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,496,089 - 139,520,396 (-)Ensembl
Ensembl Acc Id: ENST00000608795   ⟹   ENSP00000476712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,533,231 - 139,606,699 (-)Ensembl
Ensembl Acc Id: ENST00000608958   ⟹   ENSP00000476302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4139,596,608 - 139,606,699 (-)Ensembl
RefSeq Acc Id: NM_001306199   ⟹   NP_001293128
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,492,974 - 139,556,219 (-)NCBI
CHM1_14140,394,346 - 140,455,132 (-)NCBI
T2T-CHM13v2.04142,812,640 - 142,875,826 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306200   ⟹   NP_001293129
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,532,565 - 139,556,219 (-)NCBI
CHM1_14140,430,941 - 140,455,132 (-)NCBI
T2T-CHM13v2.04142,852,183 - 142,875,826 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030648   ⟹   NP_085151
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,506,038 - 139,556,219 (-)NCBI
GRCh374140,427,192 - 140,477,577 (-)ENTREZGENE
Build 364140,646,642 - 140,697,027 (-)NCBI Archive
HuRef4136,156,561 - 136,206,720 (-)ENTREZGENE
CHM1_14140,404,455 - 140,455,132 (-)NCBI
T2T-CHM13v2.04142,825,709 - 142,875,826 (-)NCBI
Sequence:
RefSeq Acc Id: NR_131339
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,532,565 - 139,556,219 (-)NCBI
CHM1_14140,430,941 - 140,455,132 (-)NCBI
T2T-CHM13v2.04142,852,183 - 142,875,826 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008661   ⟹   XP_016864150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,506,038 - 139,533,247 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054350920   ⟹   XP_054206895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04142,825,709 - 142,852,865 (-)NCBI
RefSeq Acc Id: NP_085151   ⟸   NM_030648
- Peptide Label: isoform 1
- UniProtKB: Q4W5A9 (UniProtKB/Swiss-Prot),   Q0VAH3 (UniProtKB/Swiss-Prot),   B5WWL3 (UniProtKB/Swiss-Prot),   Q9C0E6 (UniProtKB/Swiss-Prot),   Q8WTS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001293128   ⟸   NM_001306199
- Peptide Label: isoform 2
- UniProtKB: D6RJA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293129   ⟸   NM_001306200
- Peptide Label: isoform 3
- UniProtKB: B5MCZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864150   ⟸   XM_017008661
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000427300   ⟸   ENST00000506866
Ensembl Acc Id: ENSP00000385913   ⟸   ENST00000404104
Ensembl Acc Id: ENSP00000384336   ⟸   ENST00000406354
Ensembl Acc Id: ENSP00000274031   ⟸   ENST00000274031
Ensembl Acc Id: ENSP00000476302   ⟸   ENST00000608958
Ensembl Acc Id: ENSP00000476712   ⟸   ENST00000608795
RefSeq Acc Id: XP_054206895   ⟸   XM_054350920
- Peptide Label: isoform X1
Protein Domains
SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WTS6-F1-model_v2 AlphaFold Q8WTS6 1-366 view protein structure

Promoters
RGD ID:6868518
Promoter ID:EPDNEW_H7423
Type:initiation region
Name:SETD7_1
Description:SET domain containing lysine methyltransferase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7424  EPDNEW_H7425  EPDNEW_H7426  EPDNEW_H7429  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,556,219 - 139,556,279EPDNEW
RGD ID:6868520
Promoter ID:EPDNEW_H7424
Type:initiation region
Name:SETD7_2
Description:SET domain containing lysine methyltransferase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7423  EPDNEW_H7425  EPDNEW_H7426  EPDNEW_H7429  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,556,781 - 139,556,841EPDNEW
RGD ID:6802217
Promoter ID:HG_KWN:49161
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:ENST00000404104,   ENST00000406354,   OTTHUMT00000257236
Position:
Human AssemblyChrPosition (strand)Source
Build 364140,696,761 - 140,697,827 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30412 AgrOrtholog
COSMIC SETD7 COSMIC
Ensembl Genes ENSG00000145391 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000274031 ENTREZGENE
  ENST00000274031.8 UniProtKB/Swiss-Prot
  ENST00000404104 ENTREZGENE
  ENST00000404104.7 UniProtKB/TrEMBL
  ENST00000406354 ENTREZGENE
  ENST00000506866 ENTREZGENE
  ENST00000506866.6 UniProtKB/TrEMBL
  ENST00000608795.5 UniProtKB/TrEMBL
  ENST00000608958.1 UniProtKB/TrEMBL
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145391 GTEx
HGNC ID HGNC:30412 ENTREZGENE
Human Proteome Map SETD7 Human Proteome Map
InterPro Hist-Lys_N-MeTrfase_SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MORN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SETD7_SET UniProtKB/Swiss-Prot
KEGG Report hsa:80854 UniProtKB/Swiss-Prot
NCBI Gene 80854 ENTREZGENE
OMIM 606594 OMIM
PANTHER HISTONE-LYSINE N-METHYLTRANSFERASE SETD7 UniProtKB/Swiss-Prot
  HISTONE-LYSINE N-METHYLTRANSFERASE SETD7 UniProtKB/Swiss-Prot
  HISTONE-LYSINE N-METHYLTRANSFERASE SETD7 UniProtKB/TrEMBL
  HISTONE-LYSINE N-METHYLTRANSFERASE SETD7 UniProtKB/TrEMBL
Pfam MORN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot
  SET7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485615 PharmGKB
PIRSF Histone_Lys_mtfrase_SET UniProtKB/Swiss-Prot
PROSITE SAM_MT43_SET7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot
SMART SET UniProtKB/Swiss-Prot
Superfamily-SCOP Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5MCZ8 ENTREZGENE, UniProtKB/TrEMBL
  B5WWL3 ENTREZGENE
  D6RJA0 ENTREZGENE, UniProtKB/TrEMBL
  Q0VAH3 ENTREZGENE
  Q4W5A9 ENTREZGENE
  Q8WTS6 ENTREZGENE
  Q9C0E6 ENTREZGENE
  SETD7_HUMAN UniProtKB/Swiss-Prot
  V9GY19_HUMAN UniProtKB/TrEMBL
  V9GYG1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B5WWL3 UniProtKB/Swiss-Prot
  Q0VAH3 UniProtKB/Swiss-Prot
  Q4W5A9 UniProtKB/Swiss-Prot
  Q9C0E6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-12-25 SETD7  SET domain containing 7, histone lysine methyltransferase    SET domain containing lysine methyltransferase 7  Symbol and/or name change 5135510 APPROVED
2016-03-07 SETD7  SET domain containing lysine methyltransferase 7    SET domain containing (lysine methyltransferase) 7  Symbol and/or name change 5135510 APPROVED