NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase) - Rat Genome Database

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Gene: NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase) Homo sapiens
Analyze
Symbol: NSMCE2
Name: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
RGD ID: 1606915
HGNC Page HGNC:26513
Description: Enables SUMO transferase activity. Involved in DNA recombination; cellular senescence; and positive regulation of cell cycle process. Located in PML body and chromosome, telomeric region. Part of Smc5-Smc6 complex. Implicated in Seckel syndrome 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C8orf36; E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; FLJ32440; hMMS21; methyl methanesulfonate sensitivity gene 21; MMS21; MMS21 homolog; non-SMC element 2 homolog; non-SMC element 2, MMS21 homolog; non-structural maintenance of chromosomes element 2 homolog; NSE2; NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase; NSMCE2/PVT1 fusion; PVT1/NSMCE2 fusion; zinc finger, MIZ-type containing 7; ZMIZ7
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
GRCh388125,091,860 - 125,367,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8125,091,679 - 125,367,120 (+)EnsemblGRCh38hg38GRCh38
GRCh378126,104,102 - 126,379,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,173,277 - 126,448,544 (+)NCBINCBI36Build 36hg18NCBI36
Celera8122,293,246 - 122,568,218 (+)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8121,427,877 - 121,703,222 (+)NCBIHuRef
CHM1_18126,144,698 - 126,419,607 (+)NCBICHM1_1
T2T-CHM13v2.08126,225,519 - 126,500,604 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
chromosome, telomeric region  (IDA,IEA,NAS)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)
PML body  (IDA,IEA)
Smc5-Smc6 complex  (IBA,IDA,IEA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16055714   PMID:16810316   PMID:17207965   PMID:17589526   PMID:18086888   PMID:18163389   PMID:19217832   PMID:19502785   PMID:19549807  
PMID:19666737   PMID:20339536   PMID:20360068   PMID:20379614   PMID:20460480   PMID:21102611   PMID:21550342   PMID:21873635   PMID:22751501   PMID:23398456   PMID:24931836   PMID:24999758  
PMID:25105364   PMID:25245984   PMID:25359778   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26443207   PMID:26464253   PMID:26496610   PMID:26743946   PMID:27792189   PMID:28514442  
PMID:28611215   PMID:29180619   PMID:29467491   PMID:29656893   PMID:30590722   PMID:30735491   PMID:31540324   PMID:32296183   PMID:32389690   PMID:32814053   PMID:33001583   PMID:33961781  
PMID:34187905   PMID:34373451   PMID:34597346   PMID:35563538   PMID:35944360   PMID:36224576   PMID:36424410   PMID:36931259  


Genomics

Comparative Map Data
NSMCE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388125,091,860 - 125,367,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8125,091,679 - 125,367,120 (+)EnsemblGRCh38hg38GRCh38
GRCh378126,104,102 - 126,379,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,173,277 - 126,448,544 (+)NCBINCBI36Build 36hg18NCBI36
Celera8122,293,246 - 122,568,218 (+)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8121,427,877 - 121,703,222 (+)NCBIHuRef
CHM1_18126,144,698 - 126,419,607 (+)NCBICHM1_1
T2T-CHM13v2.08126,225,519 - 126,500,604 (+)NCBIT2T-CHM13v2.0
Nsmce2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391559,246,047 - 59,473,538 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1559,246,096 - 59,473,533 (+)EnsemblGRCm39 Ensembl
GRCm381559,374,198 - 59,601,689 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1559,374,247 - 59,601,684 (+)EnsemblGRCm38mm10GRCm38
MGSCv371559,205,753 - 59,433,239 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361559,203,928 - 59,431,364 (+)NCBIMGSCv36mm8
Celera1560,905,217 - 61,133,508 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1525.19NCBI
Nsmce2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8792,825,568 - 93,071,037 (+)NCBIGRCr8
mRatBN7.2790,936,112 - 91,173,435 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl790,936,112 - 91,164,899 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx792,826,087 - 93,044,522 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0795,027,272 - 95,245,732 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0794,854,556 - 95,076,868 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0799,677,295 - 99,900,765 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl799,677,290 - 99,900,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07100,263,539 - 100,486,903 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4796,167,635 - 96,393,594 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1796,201,864 - 96,427,823 (+)NCBI
Celera787,697,871 - 87,919,520 (+)NCBICelera
Cytogenetic Map7q33NCBI
Nsmce2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955461201,764 - 451,776 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955461199,356 - 451,716 (+)NCBIChiLan1.0ChiLan1.0
NSMCE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27142,514,870 - 142,789,089 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18118,026,022 - 118,300,121 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08121,777,986 - 122,052,094 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18124,529,245 - 124,803,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8124,529,268 - 124,803,114 (+)Ensemblpanpan1.1panPan2
NSMCE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11323,078,143 - 23,288,302 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1323,078,173 - 23,288,304 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1323,042,326 - 23,261,292 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01323,419,977 - 23,634,235 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1323,420,016 - 23,634,235 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11323,140,666 - 23,355,264 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01323,249,898 - 23,462,275 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01323,492,960 - 23,706,136 (+)NCBIUU_Cfam_GSD_1.0
Nsmce2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,021,038 - 15,241,228 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647022,445,433 - 22,667,559 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647022,447,278 - 22,667,302 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NSMCE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl414,358,651 - 14,598,077 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1414,359,323 - 14,598,192 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2414,948,825 - 15,035,641 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NSMCE2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,679,090 - 119,949,212 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8119,691,106 - 119,949,587 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603920,225,964 - 20,495,843 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nsmce2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473529,913,423 - 30,151,922 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473529,915,007 - 30,166,564 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NSMCE2
79 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
NM_173685.2(NSMCE2):c.419-26284A>T single nucleotide variant Lung cancer [RCV000107012] Chr8:125330935 [GRCh38]
Chr8:126343177 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 copy number gain See cases [RCV000134345] Chr8:124895891..125399814 [GRCh38]
Chr8:125908133..126412056 [GRCh37]
Chr8:125977314..126481238 [NCBI36]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1 copy number loss See cases [RCV000139653] Chr8:125089748..125243024 [GRCh38]
Chr8:126101990..126255266 [GRCh37]
Chr8:126171172..126324448 [NCBI36]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q24.13(chr8:125084554-125157061)x1 copy number loss See cases [RCV000141375] Chr8:125084554..125157061 [GRCh38]
Chr8:126096796..126169303 [GRCh37]
Chr8:126165978..126238485 [NCBI36]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) deletion Seckel syndrome 10 [RCV000412505]|not provided [RCV002523902] Chr8:125182183 [GRCh38]
Chr8:126194425 [GRCh37]
Chr8:8q24.13		 pathogenic
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) duplication Seckel syndrome 10 [RCV000412587] Chr8:125366837..125366838 [GRCh38]
Chr8:126379079..126379080 [GRCh37]
Chr8:8q24.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:126358525-126559524)x3 copy number gain not provided [RCV000682941] Chr8:126358525..126559524 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:126082565-126611303)x3 copy number gain not provided [RCV000747819] Chr8:126082565..126611303 [GRCh37]
Chr8:8q24.13		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_173685.4(NSMCE2):c.483C>T (p.Thr161=) single nucleotide variant NSMCE2-related condition [RCV003975593]|not provided [RCV000887420] Chr8:125357283 [GRCh38]
Chr8:126369525 [GRCh37]
Chr8:8q24.13		 benign|likely benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_173685.4(NSMCE2):c.394C>T (p.Gln132Ter) single nucleotide variant not provided [RCV000813994] Chr8:125182232 [GRCh38]
Chr8:126194474 [GRCh37]
Chr8:8q24.13		 pathogenic|likely pathogenic
GRCh37/hg19 8q24.13(chr8:126179381-126241524)x1 copy number loss not provided [RCV000846777] Chr8:126179381..126241524 [GRCh37]
Chr8:8q24.13		 pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:126178155-126244643)x1 copy number loss not provided [RCV001006143] Chr8:126178155..126244643 [GRCh37]
Chr8:8q24.13		 likely benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_173685.4(NSMCE2):c.377T>G (p.Phe126Cys) single nucleotide variant NSMCE2-related condition [RCV003968109]|not provided [RCV000889978] Chr8:125182215 [GRCh38]
Chr8:126194457 [GRCh37]
Chr8:8q24.13		 benign
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu) single nucleotide variant Global developmental delay [RCV001093634] Chr8:125357265 [GRCh38]
Chr8:126369507 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_173685.4(NSMCE2):c.419-18C>T single nucleotide variant Seckel syndrome 10 [RCV001335548]|not provided [RCV002070202] Chr8:125357201 [GRCh38]
Chr8:126369443 [GRCh37]
Chr8:8q24.13		 likely benign|uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_173685.4(NSMCE2):c.47C>T (p.Ser16Phe) single nucleotide variant not provided [RCV002045593] Chr8:125102377 [GRCh38]
Chr8:126114619 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.519+6G>A single nucleotide variant not provided [RCV001890530] Chr8:125357325 [GRCh38]
Chr8:126369567 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_126163393)_(126379127_?)dup duplication not provided [RCV002012110] Chr8:126163393..126379127 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.611G>A (p.Arg204Gln) single nucleotide variant not provided [RCV002000556] Chr8:125357803 [GRCh38]
Chr8:126370045 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.118A>G (p.Thr40Ala) single nucleotide variant not provided [RCV001887916] Chr8:125102448 [GRCh38]
Chr8:126114690 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.653C>T (p.Thr218Met) single nucleotide variant Inborn genetic diseases [RCV002556426]|not provided [RCV001921223] Chr8:125366794 [GRCh38]
Chr8:126379036 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.554G>A (p.Cys185Tyr) single nucleotide variant not provided [RCV001976912] Chr8:125357746 [GRCh38]
Chr8:126369988 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.587G>T (p.Arg196Leu) single nucleotide variant not provided [RCV002028704] Chr8:125357779 [GRCh38]
Chr8:126370021 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.291A>G (p.Ile97Met) single nucleotide variant not provided [RCV002047711] Chr8:125182129 [GRCh38]
Chr8:126194371 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.265-9C>A single nucleotide variant not provided [RCV002034887] Chr8:125182094 [GRCh38]
Chr8:126194336 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.588C>T (p.Arg196=) single nucleotide variant not provided [RCV001978610] Chr8:125357780 [GRCh38]
Chr8:126370022 [GRCh37]
Chr8:8q24.13		 likely benign|uncertain significance
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr) single nucleotide variant Seckel syndrome 10 [RCV003492713]|not provided [RCV001992938] Chr8:125357769 [GRCh38]
Chr8:126370011 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.609G>T (p.Lys203Asn) single nucleotide variant Inborn genetic diseases [RCV003365518]|not provided [RCV001901061] Chr8:125357801 [GRCh38]
Chr8:126370043 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.738C>T (p.Ser246=) single nucleotide variant not provided [RCV002134567] Chr8:125366879 [GRCh38]
Chr8:126379121 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.658A>G (p.Ile220Val) single nucleotide variant not provided [RCV002187378] Chr8:125366799 [GRCh38]
Chr8:126379041 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.158-17A>G single nucleotide variant not provided [RCV002134239] Chr8:125151154 [GRCh38]
Chr8:126163396 [GRCh37]
Chr8:8q24.13		 benign
NM_173685.4(NSMCE2):c.576C>T (p.Asp192=) single nucleotide variant NSMCE2-related condition [RCV003970965]|not provided [RCV002152071] Chr8:125357768 [GRCh38]
Chr8:126370010 [GRCh37]
Chr8:8q24.13		 benign
NM_173685.4(NSMCE2):c.579C>A (p.Ala193=) single nucleotide variant not provided [RCV002118219] Chr8:125357771 [GRCh38]
Chr8:126370013 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.265-19_265-16del deletion not provided [RCV002175236] Chr8:125182084..125182087 [GRCh38]
Chr8:126194326..126194329 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.158-8dup duplication not provided [RCV002122927] Chr8:125151154..125151155 [GRCh38]
Chr8:126163396..126163397 [GRCh37]
Chr8:8q24.13		 benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_126369441)_(126370080_?)del deletion not provided [RCV003113841] Chr8:126369441..126370080 [GRCh37]
Chr8:8q24.13		 pathogenic
NC_000008.10:g.(?_124515613)_(126379127_?)dup duplication not provided [RCV003113842] Chr8:124515613..126379127 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.38G>A (p.Gly13Asp) single nucleotide variant not provided [RCV003114788] Chr8:125102368 [GRCh38]
Chr8:126114610 [GRCh37]
Chr8:8q24.13		 uncertain significance
NC_000008.10:g.(?_126036859)_(126379127_?)dup duplication Hereditary spastic paraplegia 8 [RCV003116791] Chr8:126036859..126379127 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.418+27C>T single nucleotide variant NSMCE2-related condition [RCV003916432]|not provided [RCV002263488] Chr8:125182283 [GRCh38]
Chr8:126194525 [GRCh37]
Chr8:8q24.13		 benign|likely benign
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_173685.4(NSMCE2):c.277C>T (p.Arg93Cys) single nucleotide variant not provided [RCV002299891] Chr8:125182115 [GRCh38]
Chr8:126194357 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.497A>C (p.Asn166Thr) single nucleotide variant Inborn genetic diseases [RCV002777952] Chr8:125357297 [GRCh38]
Chr8:126369539 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.265-14G>A single nucleotide variant not provided [RCV002971739] Chr8:125182089 [GRCh38]
Chr8:126194331 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.393A>G (p.Gln131=) single nucleotide variant not provided [RCV002621681] Chr8:125182231 [GRCh38]
Chr8:126194473 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.519+4C>T single nucleotide variant not provided [RCV002706257] Chr8:125357323 [GRCh38]
Chr8:126369565 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.47_49del (p.Ser16del) deletion not provided [RCV003018555] Chr8:125102375..125102377 [GRCh38]
Chr8:126114617..126114619 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.379G>T (p.Val127Leu) single nucleotide variant not provided [RCV003018265] Chr8:125182217 [GRCh38]
Chr8:126194459 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.114G>C (p.Met38Ile) single nucleotide variant not provided [RCV002949403] Chr8:125102444 [GRCh38]
Chr8:126114686 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.214G>A (p.Asp72Asn) single nucleotide variant not provided [RCV002590386] Chr8:125151227 [GRCh38]
Chr8:126163469 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.519+5C>T single nucleotide variant not provided [RCV002575836] Chr8:125357324 [GRCh38]
Chr8:126369566 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.626+14G>T single nucleotide variant not provided [RCV002786794] Chr8:125357832 [GRCh38]
Chr8:126370074 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.218G>A (p.Arg73Gln) single nucleotide variant not provided [RCV002626011] Chr8:125151231 [GRCh38]
Chr8:126163473 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.34A>G (p.Thr12Ala) single nucleotide variant not provided [RCV002700428] Chr8:125102364 [GRCh38]
Chr8:126114606 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV002918839] Chr8:125151230 [GRCh38]
Chr8:126163472 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.730C>A (p.Arg244Ser) single nucleotide variant Inborn genetic diseases [RCV002956936] Chr8:125366871 [GRCh38]
Chr8:126379113 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.265-11G>A single nucleotide variant not provided [RCV002632024] Chr8:125182092 [GRCh38]
Chr8:126194334 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.240G>A (p.Lys80=) single nucleotide variant not provided [RCV002631542] Chr8:125151253 [GRCh38]
Chr8:126163495 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.610C>T (p.Arg204Trp) single nucleotide variant not provided [RCV002962423] Chr8:125357802 [GRCh38]
Chr8:126370044 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.654G>A (p.Thr218=) single nucleotide variant not provided [RCV002650767] Chr8:125366795 [GRCh38]
Chr8:126379037 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.418+20T>A single nucleotide variant not provided [RCV002807146] Chr8:125182276 [GRCh38]
Chr8:126194518 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.145G>A (p.Val49Met) single nucleotide variant Inborn genetic diseases [RCV002935933] Chr8:125102475 [GRCh38]
Chr8:126114717 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.519+16A>G single nucleotide variant not provided [RCV002647153] Chr8:125357335 [GRCh38]
Chr8:126369577 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.622G>A (p.Ala208Thr) single nucleotide variant not provided [RCV002605232] Chr8:125357814 [GRCh38]
Chr8:126370056 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.84A>G (p.Lys28=) single nucleotide variant not provided [RCV003051617] Chr8:125102414 [GRCh38]
Chr8:126114656 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.63G>A (p.Glu21=) single nucleotide variant not provided [RCV002590255] Chr8:125102393 [GRCh38]
Chr8:126114635 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.170G>A (p.Ser57Asn) single nucleotide variant not provided [RCV003071269] Chr8:125151183 [GRCh38]
Chr8:126163425 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.626+11G>A single nucleotide variant not provided [RCV002583041] Chr8:125357829 [GRCh38]
Chr8:126370071 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.216T>A (p.Asp72Glu) single nucleotide variant Inborn genetic diseases [RCV003309036] Chr8:125151229 [GRCh38]
Chr8:126163471 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_173685.4(NSMCE2):c.181A>G (p.Met61Val) single nucleotide variant Inborn genetic diseases [RCV003343415] Chr8:125151194 [GRCh38]
Chr8:126163436 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.419-15T>G single nucleotide variant not provided [RCV003570288] Chr8:125357204 [GRCh38]
Chr8:126369446 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.20C>G (p.Ser7Ter) single nucleotide variant not provided [RCV003542998] Chr8:125102350 [GRCh38]
Chr8:126114592 [GRCh37]
Chr8:8q24.13		 pathogenic
GRCh37/hg19 8q24.13(chr8:126101781-126355162)x1 copy number loss not provided [RCV003483039] Chr8:126101781..126355162 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.447C>T (p.Asp149=) single nucleotide variant not provided [RCV003440634] Chr8:125357247 [GRCh38]
Chr8:126369489 [GRCh37]
Chr8:8q24.13		 likely benign
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4 copy number gain Distal trisomy 8q [RCV003458956] Chr8:124534271..129054138 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
NM_173685.4(NSMCE2):c.519+16A>T single nucleotide variant not provided [RCV003713757] Chr8:125357335 [GRCh38]
Chr8:126369577 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.158-20G>A single nucleotide variant not provided [RCV003833644] Chr8:125151151 [GRCh38]
Chr8:126163393 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.466_470del (p.Glu156fs) deletion not provided [RCV003670523] Chr8:125357266..125357270 [GRCh38]
Chr8:126369508..126369512 [GRCh37]
Chr8:8q24.13		 pathogenic
NM_173685.4(NSMCE2):c.36T>C (p.Thr12=) single nucleotide variant not provided [RCV003668823] Chr8:125102366 [GRCh38]
Chr8:126114608 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.574G>A (p.Asp192Asn) single nucleotide variant not provided [RCV003701334] Chr8:125357766 [GRCh38]
Chr8:126370008 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_173685.4(NSMCE2):c.158-14T>G single nucleotide variant not provided [RCV003701923] Chr8:125151157 [GRCh38]
Chr8:126163399 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.384G>A (p.Gln128=) single nucleotide variant not provided [RCV003667868] Chr8:125182222 [GRCh38]
Chr8:126194464 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.567T>C (p.Tyr189=) single nucleotide variant not provided [RCV003848480] Chr8:125357759 [GRCh38]
Chr8:126370001 [GRCh37]
Chr8:8q24.13		 likely benign
GRCh37/hg19 8q24.13(chr8:125898137-126447429)x3 copy number gain not specified [RCV003986755] Chr8:125898137..126447429 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
NM_173685.4(NSMCE2):c.418+9A>G single nucleotide variant not provided [RCV003869165] Chr8:125182265 [GRCh38]
Chr8:126194507 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.520-18A>G single nucleotide variant not provided [RCV003675855] Chr8:125357694 [GRCh38]
Chr8:126369936 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.519+14C>T single nucleotide variant not provided [RCV003845613] Chr8:125357333 [GRCh38]
Chr8:126369575 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.690A>G (p.Ala230=) single nucleotide variant not provided [RCV003847952] Chr8:125366831 [GRCh38]
Chr8:126379073 [GRCh37]
Chr8:8q24.13		 likely benign
NM_173685.4(NSMCE2):c.735T>C (p.His245=) single nucleotide variant NSMCE2-related condition [RCV003959118] Chr8:125366876 [GRCh38]
Chr8:126379118 [GRCh37]
Chr8:8q24.13		 likely benign
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1723
Count of miRNA genes:788
Interacting mature miRNAs:892
Transcripts:ENST00000287437, ENST00000517315, ENST00000517532, ENST00000518013, ENST00000518146, ENST00000519010, ENST00000519712, ENST00000520866, ENST00000521460, ENST00000522563, ENST00000523549, ENST00000523741, ENST00000523824
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D8S1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,287,206 - 126,287,328UniSTSGRCh37
Build 368126,356,388 - 126,356,510RGDNCBI36
Celera8122,476,558 - 122,476,674RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,611,552 - 121,611,668UniSTS
Marshfield Genetic Map8135.08UniSTS
Marshfield Genetic Map8135.08RGD
deCODE Assembly Map8129.33UniSTS
SHGC-33154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,379,192 - 126,379,316UniSTSGRCh37
Build 368126,448,374 - 126,448,498RGDNCBI36
Celera8122,568,043 - 122,568,167RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,703,047 - 121,703,171UniSTS
TNG Radiation Hybrid Map861228.0UniSTS
Stanford-G3 RH Map83843.0UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
Whitehead-RH Map8639.7UniSTS
NCBI RH Map81461.6UniSTS
GeneMap99-G3 RH Map83933.0UniSTS
RH36272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,229,962 - 126,230,080UniSTSGRCh37
Build 368126,299,144 - 126,299,262RGDNCBI36
Celera8122,419,307 - 122,419,425RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,553,677 - 121,553,795UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81463.9UniSTS
D8S1571E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,260,157 - 126,260,235UniSTSGRCh37
Build 368126,329,339 - 126,329,417RGDNCBI36
Celera8122,449,499 - 122,449,577RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,582,169 - 121,582,247UniSTS
HuRef8121,584,666 - 121,584,744UniSTS
D8S1688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,321,368 - 126,321,490UniSTSGRCh37
Build 368126,390,550 - 126,390,672RGDNCBI36
Celera8122,510,709 - 122,510,831RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,645,708 - 121,645,830UniSTS
SHGC-154637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,142,320 - 126,142,667UniSTSGRCh37
Build 368126,211,502 - 126,211,849RGDNCBI36
Celera8122,331,673 - 122,332,020RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,466,113 - 121,466,460UniSTS
TNG Radiation Hybrid Map861086.0UniSTS
D8S371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,141,764 - 126,142,007UniSTSGRCh37
Build 368126,210,946 - 126,211,189RGDNCBI36
Celera8122,331,119 - 122,331,360RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,465,559 - 121,465,800UniSTS
RH11704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,251,564 - 126,251,758UniSTSGRCh37
Build 368126,320,746 - 126,320,940RGDNCBI36
Celera8122,440,906 - 122,441,100RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,575,277 - 121,575,471UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
A009A17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,379,090 - 126,379,297UniSTSGRCh37
Build 368126,448,272 - 126,448,479RGDNCBI36
Celera8122,567,941 - 122,568,148RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,702,945 - 121,703,152UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
RH36327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,309,632 - 126,309,747UniSTSGRCh37
Build 368126,378,814 - 126,378,929RGDNCBI36
Celera8122,498,976 - 122,499,091RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,633,972 - 121,634,087UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
G20371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,320,038 - 126,320,153UniSTSGRCh37
Build 368126,389,220 - 126,389,335RGDNCBI36
Celera8122,509,379 - 122,509,494RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,644,378 - 121,644,493UniSTS
A005O09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,320,038 - 126,320,153UniSTSGRCh37
Build 368126,389,220 - 126,389,335RGDNCBI36
Celera8122,509,379 - 122,509,494RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,644,378 - 121,644,493UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
NCBI RH Map81472.9UniSTS
SHGC-56887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,194,594 - 126,194,781UniSTSGRCh37
Build 368126,263,776 - 126,263,963RGDNCBI36
Celera8122,383,939 - 122,384,126RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,518,328 - 121,518,515UniSTS
TNG Radiation Hybrid Map861117.0UniSTS


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 1395 1245 794 203 861 144 3008 1025 780 278 1149 1200 76 1 823 1885 5 2
Low 1044 1736 932 421 1083 321 1348 1169 2953 141 311 413 99 381 903 1
Below cutoff 10 7 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA580621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX119125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU942315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB217595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287437   ⟹   ENSP00000287437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,860 - 125,367,120 (+)Ensembl
RefSeq Acc Id: ENST00000517315   ⟹   ENSP00000428846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,124,144 - 125,367,118 (+)Ensembl
RefSeq Acc Id: ENST00000517532   ⟹   ENSP00000429612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,844 - 125,357,771 (+)Ensembl
RefSeq Acc Id: ENST00000518013   ⟹   ENSP00000431002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,864 - 125,102,464 (+)Ensembl
RefSeq Acc Id: ENST00000518146   ⟹   ENSP00000430313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,879 - 125,182,271 (+)Ensembl
RefSeq Acc Id: ENST00000519010   ⟹   ENSP00000481615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,844 - 125,182,519 (+)Ensembl
RefSeq Acc Id: ENST00000519712   ⟹   ENSP00000429014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,102,358 - 125,182,430 (+)Ensembl
RefSeq Acc Id: ENST00000520866   ⟹   ENSP00000478256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,844 - 125,182,796 (+)Ensembl
RefSeq Acc Id: ENST00000521460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,363,026 - 125,367,116 (+)Ensembl
RefSeq Acc Id: ENST00000522563   ⟹   ENSP00000430668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,870 - 125,367,075 (+)Ensembl
RefSeq Acc Id: ENST00000523549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,102,319 - 125,156,272 (+)Ensembl
RefSeq Acc Id: ENST00000523741   ⟹   ENSP00000429383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,679 - 125,182,256 (+)Ensembl
RefSeq Acc Id: ENST00000523824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8125,091,870 - 125,151,369 (+)Ensembl
RefSeq Acc Id: NM_001349485   ⟹   NP_001336414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349486   ⟹   NP_001336415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349487   ⟹   NP_001336416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,182,575 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,316,418 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173685   ⟹   NP_775956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
GRCh378126,104,083 - 126,379,367 (+)RGD
Build 368126,173,277 - 126,448,544 (+)NCBI Archive
Celera8122,293,246 - 122,568,218 (+)RGD
HuRef8121,427,877 - 121,703,222 (+)RGD
CHM1_18126,144,698 - 126,419,607 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146191
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146192
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,182,575 (+)NCBI
T2T-CHM13v2.08126,225,699 - 126,316,418 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516974   ⟹   XP_011515276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516975   ⟹   XP_011515277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013330   ⟹   XP_016868819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,127,185 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013331   ⟹   XP_016868820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013332   ⟹   XP_016868821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,127,154 - 125,363,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447130   ⟹   XP_024302898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421702   ⟹   XP_047277658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
RefSeq Acc Id: XM_047421703   ⟹   XP_047277659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
RefSeq Acc Id: XM_047421704   ⟹   XP_047277660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,363,554 (+)NCBI
RefSeq Acc Id: XM_047421705   ⟹   XP_047277661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
RefSeq Acc Id: XM_054360305   ⟹   XP_054216280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,261,031 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360306   ⟹   XP_054216281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360307   ⟹   XP_054216282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360308   ⟹   XP_054216283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,652 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360309   ⟹   XP_054216284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,699 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360310   ⟹   XP_054216285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,688 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360311   ⟹   XP_054216286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,519 - 126,500,604 (+)NCBI
RefSeq Acc Id: XM_054360312   ⟹   XP_054216287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,261,000 - 126,496,774 (+)NCBI
RefSeq Acc Id: XM_054360313   ⟹   XP_054216288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08126,225,699 - 126,497,038 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001336414 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336415 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336416 (Get FASTA)   NCBI Sequence Viewer  
  NP_775956 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515276 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515277 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868819 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868820 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868821 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302898 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277658 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277659 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277660 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216280 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216288 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH32797 (Get FASTA)   NCBI Sequence Viewer  
  BAB71338 (Get FASTA)   NCBI Sequence Viewer  
  CAC38636 (Get FASTA)   NCBI Sequence Viewer  
  EAW92083 (Get FASTA)   NCBI Sequence Viewer  
  EAW92084 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000287437
  ENSP00000287437.3
  ENSP00000428846.1
  ENSP00000429014.1
  ENSP00000429383.1
  ENSP00000429612
  ENSP00000429612.1
  ENSP00000430313.1
  ENSP00000430668
  ENSP00000430668.1
  ENSP00000431002.1
  ENSP00000478256
  ENSP00000478256.1
  ENSP00000481615.1
GenBank Protein Q96MF7 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_775956   ⟸   NM_173685
- Peptide Label: isoform 1
- UniProtKB: Q8N549 (UniProtKB/Swiss-Prot),   Q96MF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515277   ⟸   XM_011516975
- Peptide Label: isoform X2
- UniProtKB: Q8N549 (UniProtKB/Swiss-Prot),   Q96MF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515276   ⟸   XM_011516974
- Peptide Label: isoform X2
- UniProtKB: Q8N549 (UniProtKB/Swiss-Prot),   Q96MF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868820   ⟸   XM_017013331
- Peptide Label: isoform X2
- UniProtKB: Q8N549 (UniProtKB/Swiss-Prot),   Q96MF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868821   ⟸   XM_017013332
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868819   ⟸   XM_017013330
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302898   ⟸   XM_024447130
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336415   ⟸   NM_001349486
- Peptide Label: isoform 1
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336414   ⟸   NM_001349485
- Peptide Label: isoform 1
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336416   ⟸   NM_001349487
- Peptide Label: isoform 2
- UniProtKB: A0A087WTZ8 (UniProtKB/TrEMBL),   E5RIM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429612   ⟸   ENST00000517532
RefSeq Acc Id: ENSP00000428846   ⟸   ENST00000517315
RefSeq Acc Id: ENSP00000430313   ⟸   ENST00000518146
RefSeq Acc Id: ENSP00000431002   ⟸   ENST00000518013
RefSeq Acc Id: ENSP00000481615   ⟸   ENST00000519010
RefSeq Acc Id: ENSP00000429014   ⟸   ENST00000519712
RefSeq Acc Id: ENSP00000478256   ⟸   ENST00000520866
RefSeq Acc Id: ENSP00000430668   ⟸   ENST00000522563
RefSeq Acc Id: ENSP00000287437   ⟸   ENST00000287437
RefSeq Acc Id: ENSP00000429383   ⟸   ENST00000523741
RefSeq Acc Id: XP_047277658   ⟸   XM_047421702
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277661   ⟸   XM_047421705
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277659   ⟸   XM_047421703
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277660   ⟸   XM_047421704
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216286   ⟸   XM_054360311
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216283   ⟸   XM_054360308
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216285   ⟸   XM_054360310
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216284   ⟸   XM_054360309
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216281   ⟸   XM_054360306
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216282   ⟸   XM_054360307
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   Q8N549 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216288   ⟸   XM_054360313
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216287   ⟸   XM_054360312
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216280   ⟸   XM_054360305
- Peptide Label: isoform X1
Protein Domains
SP-RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MF7-F1-model_v2 AlphaFold Q96MF7 1-247 view protein structure

Promoters
RGD ID:7214163
Promoter ID:EPDNEW_H12827
Type:initiation region
Name:NSMCE2_1
Description:NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,091,920EPDNEW
RGD ID:6806822
Promoter ID:HG_KWN:62068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014846,   NM_173685,   UC003YRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368126,172,986 - 126,173,486 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26513 AgrOrtholog
COSMIC NSMCE2 COSMIC
Ensembl Genes ENSG00000156831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000287437 ENTREZGENE
  ENST00000287437.8 UniProtKB/Swiss-Prot
  ENST00000517315.1 UniProtKB/TrEMBL
  ENST00000517532 ENTREZGENE
  ENST00000517532.5 UniProtKB/TrEMBL
  ENST00000518013.5 UniProtKB/TrEMBL
  ENST00000518146.5 UniProtKB/TrEMBL
  ENST00000519010.5 UniProtKB/TrEMBL
  ENST00000519712.1 UniProtKB/TrEMBL
  ENST00000520866 ENTREZGENE
  ENST00000520866.5 UniProtKB/TrEMBL
  ENST00000522563 ENTREZGENE
  ENST00000522563.5 UniProtKB/Swiss-Prot
  ENST00000523741.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156831 GTEx
HGNC ID HGNC:26513 ENTREZGENE
Human Proteome Map NSMCE2 Human Proteome Map
InterPro Nse2(Mms21) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_MIZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:286053 UniProtKB/Swiss-Prot
NCBI Gene 286053 ENTREZGENE
OMIM 617246 OMIM
PANTHER E3 SUMO-PROTEIN LIGASE NSE2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-Nse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672355 PharmGKB
PROSITE ZF_SP_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTZ8 ENTREZGENE, UniProtKB/TrEMBL
  E5RFJ1_HUMAN UniProtKB/TrEMBL
  E5RG00_HUMAN UniProtKB/TrEMBL
  E5RHW9_HUMAN UniProtKB/TrEMBL
  E5RIM1 ENTREZGENE, UniProtKB/TrEMBL
  E5RK09_HUMAN UniProtKB/TrEMBL
  H0YB96_HUMAN UniProtKB/TrEMBL
  NSE2_HUMAN UniProtKB/Swiss-Prot
  Q8N549 ENTREZGENE
  Q96MF7 ENTREZGENE
UniProt Secondary Q8N549 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 NSMCE2  NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase    NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase  Symbol and/or name change 5135510 APPROVED
2015-08-11 NSMCE2  NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase    non-SMC element 2, MMS21 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED