TOP3B (DNA topoisomerase III beta) - Rat Genome Database

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Gene: TOP3B (DNA topoisomerase III beta) Homo sapiens
Analyze
Symbol: TOP3B
Name: DNA topoisomerase III beta
RGD ID: 1319825
HGNC Page HGNC:11993
Description: Enables RNA topoisomerase activity. Predicted to be involved in DNA recombination; DNA repair; and DNA topological change. Predicted to act upstream of or within chromosome segregation. Part of DNA topoisomerase III-beta-TDRD3 complex and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA topoisomerase 3-beta-1; DNA topoisomerase III beta-1; FLJ39376; TOP3B1; topoisomerase (DNA) III beta; topoisomerase III beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TOP3BP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,957,025 - 21,982,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,957,025 - 21,982,813 (-)EnsemblGRCh38hg38GRCh38
GRCh372222,311,397 - 22,337,184 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,641,403 - 20,667,147 (-)NCBINCBI36Build 36hg18NCBI36
Build 342220,635,957 - 20,661,701NCBI
Celera226,128,944 - 6,154,663 (-)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef225,268,479 - 5,294,196 (-)NCBIHuRef
CHM1_12222,311,501 - 22,337,220 (-)NCBICHM1_1
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9074928   PMID:9110174   PMID:9927731   PMID:10710432   PMID:11549288   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15231747   PMID:15358519  
PMID:15461802   PMID:15489334   PMID:16189514   PMID:16344560   PMID:18854154   PMID:20950730   PMID:21873635   PMID:22658674   PMID:22678362   PMID:22681889   PMID:23891004   PMID:23912945  
PMID:24239288   PMID:24507716   PMID:24778252   PMID:24981860   PMID:25416956   PMID:25609649   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27257063   PMID:27880917   PMID:28039324  
PMID:28101374   PMID:28176834   PMID:29395067   PMID:29471495   PMID:29490292   PMID:29892012   PMID:30995489   PMID:31091453   PMID:31462741   PMID:31515488   PMID:31795919   PMID:32028044  
PMID:32296183   PMID:32735900   PMID:32807901   PMID:32877691   PMID:33005030   PMID:33378676   PMID:33545068   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34133714  
PMID:34159380   PMID:34329467   PMID:34709727   PMID:35013218   PMID:35271311   PMID:35509820   PMID:35575683   PMID:35748872   PMID:35915203   PMID:35945419   PMID:36114006   PMID:36232890  
PMID:36774506   PMID:37267103   PMID:37689310   PMID:37794589  


Genomics

Comparative Map Data
TOP3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,957,025 - 21,982,787 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,957,025 - 21,982,813 (-)EnsemblGRCh38hg38GRCh38
GRCh372222,311,397 - 22,337,184 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,641,403 - 20,667,147 (-)NCBINCBI36Build 36hg18NCBI36
Build 342220,635,957 - 20,661,701NCBI
Celera226,128,944 - 6,154,663 (-)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef225,268,479 - 5,294,196 (-)NCBIHuRef
CHM1_12222,311,501 - 22,337,220 (-)NCBICHM1_1
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBIT2T-CHM13v2.0
Top3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391616,688,587 - 16,710,850 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1616,688,600 - 16,710,854 (+)EnsemblGRCm39 Ensembl
GRCm381616,870,722 - 16,892,986 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1616,870,736 - 16,892,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv371616,870,984 - 16,893,079 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361616,784,454 - 16,806,549 (+)NCBIMGSCv36mm8
Celera1617,442,801 - 17,464,977 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.46NCBI
Top3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81197,601,223 - 97,629,678 (-)NCBIGRCr8
mRatBN7.21184,097,018 - 84,125,474 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1184,097,026 - 84,125,392 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,821,137 - 92,849,383 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01185,482,270 - 85,510,510 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,535,862 - 84,564,108 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01188,346,305 - 88,374,896 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,346,313 - 88,374,679 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01191,401,389 - 91,429,964 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,116,936 - 86,145,314 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,157,538 - 86,185,850 (-)NCBI
Celera1182,851,647 - 82,880,025 (-)NCBICelera
Cytogenetic Map11q23NCBI
Top3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544217,200,453 - 17,225,335 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544217,201,079 - 17,223,824 (+)NCBIChiLan1.0ChiLan1.0
TOP3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22331,498,751 - 31,524,557 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12234,047,630 - 34,073,423 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0224,076,295 - 4,102,086 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12220,557,248 - 20,583,307 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2220,557,248 - 20,583,464 (-)Ensemblpanpan1.1panPan2
TOP3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12631,198,371 - 31,223,133 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2631,198,382 - 31,215,134 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2631,154,388 - 31,178,817 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02632,604,302 - 32,628,806 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2632,604,310 - 32,628,701 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12630,652,585 - 30,677,122 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02630,276,606 - 30,301,211 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02631,367,160 - 31,391,836 (-)NCBIUU_Cfam_GSD_1.0
Top3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,971,807 - 140,997,296 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366191,756,791 - 1,785,953 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366191,756,829 - 1,782,063 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOP3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,020,509 - 50,037,856 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,020,412 - 50,037,854 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,462,935 - 53,480,381 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TOP3B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,137,823 - 4,163,860 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,137,862 - 4,166,436 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,836,805 - 2,865,520 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Top3b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247471,446,412 - 1,473,600 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247471,450,236 - 1,473,467 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOP3B
77 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.22(chr22:21981871-22202339)x3 copy number gain Autism spectrum disorders [RCV000050456]|See cases [RCV000050456] Chr22:21981871..22202339 [GRCh38]
Chr22:22336268..22556733 [GRCh37]
Chr22:22q11.22		 benign
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22(chr22:22313128-22556733) copy number loss Delayed speech and language development [RCV001291987] Chr22:22313128..22556733 [GRCh37]
Chr22:22q11.22		 likely pathogenic
GRCh38/hg38 22q11.22(chr22:21981871-22202339)x3 copy number gain See cases [RCV000050456] Chr22:21981871..22202339 [GRCh38]
Chr22:22336268..22556733 [GRCh37]
Chr22:20666268..20886733 [NCBI36]
Chr22:22q11.22		 benign
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.22(chr22:21981871-22202339)x1 copy number loss See cases [RCV000135467] Chr22:21981871..22202339 [GRCh38]
Chr22:22336268..22556733 [GRCh37]
Chr22:20666268..20886733 [NCBI36]
Chr22:22q11.22		 benign
GRCh38/hg38 22q11.22(chr22:21968759-22220398)x3 copy number gain See cases [RCV000136348] Chr22:21968759..22220398 [GRCh38]
Chr22:22323131..22574790 [GRCh37]
Chr22:20653131..20904790 [NCBI36]
Chr22:22q11.22		 benign
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.22(chr22:21981865-22202315)x3 copy number gain See cases [RCV000138625] Chr22:21981865..22202315 [GRCh38]
Chr22:22336262..22556709 [GRCh37]
Chr22:20666262..20886709 [NCBI36]
Chr22:22q11.22		 likely benign
GRCh38/hg38 22q11.22(chr22:21981865-22202315)x1 copy number loss See cases [RCV000138627] Chr22:21981865..22202315 [GRCh38]
Chr22:22336262..22556709 [GRCh37]
Chr22:20666262..20886709 [NCBI36]
Chr22:22q11.22		 likely benign
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.22(chr22:21981865-22140715)x3 copy number gain See cases [RCV000139287] Chr22:21981865..22140715 [GRCh38]
Chr22:22336262..22495108 [GRCh37]
Chr22:20666262..20825108 [NCBI36]
Chr22:22q11.22		 likely benign
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
Single allele duplication Large for gestational age [RCV000161899] Chr22:22314463..22573637 [GRCh37]
Chr22:22q11.22		 not provided
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1 copy number loss See cases [RCV000240088] Chr22:21923858..22963000 [GRCh37]
Chr22:22q11.21-11.22		 likely pathogenic
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1 copy number loss See cases [RCV000203428] Chr22:22320654..22566334 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.22(chr22:22312879-22556358)x3 copy number gain Premature ovarian failure [RCV000225231] Chr22:22312879..22556358 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3 copy number gain See cases [RCV000240579] Chr22:21923858..23025727 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1 copy number loss See cases [RCV002285059] Chr22:21462566..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.22(chr22:22313381-22336268)x3 copy number gain See cases [RCV000445856] Chr22:22313381..22336268 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1 copy number loss See cases [RCV000448269] Chr22:21798906..22997928 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NC_000022.10:g.(?_22320930)_(22566160_?)del deletion Schizophrenia [RCV000416702] Chr22:22320930..22566160 [GRCh37]
Chr22:20650930..20896160 [NCBI36]
Chr22:22q11.22		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22(chr22:22313381-22336268)x1 copy number loss See cases [RCV000448212] Chr22:22313381..22336268 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 copy number gain See cases [RCV000510372] Chr22:21804562..23781918 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1 copy number loss See cases [RCV000510228] Chr22:21798907..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 copy number loss See cases [RCV000511441] Chr22:21798907..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 copy number loss See cases [RCV000511924] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3 copy number gain See cases [RCV000510925] Chr22:21800796..22998050 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2014G>A (p.Glu672Lys) single nucleotide variant not specified [RCV004321591] Chr22:21958585 [GRCh38]
Chr22:22312957 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22(chr22:22311348-22578983)x1 copy number loss not provided [RCV000684467] Chr22:22311348..22578983 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3 copy number gain not provided [RCV000684491] Chr22:21804562..22962962 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1 copy number loss not provided [RCV000684492] Chr22:21800470..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 copy number loss not provided [RCV000684499] Chr22:21465661..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NC_000022.11:g.(?_21959229)_(22218520_?)del deletion Autism [RCV000754255] Chr22:21959229..22218520 [GRCh38]
Chr22:22q11.22		 likely pathogenic
NC_000022.11:g.(?_21956007)_(22224188_?)del deletion Schizophrenia [RCV000754254] Chr22:21956007..22224188 [GRCh38]
Chr22:22q11.22		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 copy number loss not provided [RCV000741779] Chr22:21689086..22979897 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1 copy number loss not provided [RCV000741784] Chr22:21910280..22972396 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:22069340-22328391)x3 copy number gain not provided [RCV000741786] Chr22:22069340..22328391 [GRCh37]
Chr22:22q11.21-11.22		 benign
GRCh37/hg19 22q11.22(chr22:22304943-22573637)x3 copy number gain not provided [RCV000741787] Chr22:22304943..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22304943-22594113)x3 copy number gain not provided [RCV000741788] Chr22:22304943..22594113 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22307381-22573637)x1 copy number loss not provided [RCV000741789] Chr22:22307381..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22307381-22594113)x3 copy number gain not provided [RCV000741790] Chr22:22307381..22594113 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312011-22573637)x1 copy number loss not provided [RCV000741791] Chr22:22312011..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312292-22573637)x1 copy number loss not provided [RCV000741792] Chr22:22312292..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312668-22573209)x3 copy number gain not provided [RCV000741793] Chr22:22312668..22573209 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312668-22579341)x3 copy number gain not provided [RCV000741794] Chr22:22312668..22579341 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312879-22573209)x3 copy number gain not provided [RCV000741795] Chr22:22312879..22573209 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312879-22584809)x3 copy number gain not provided [RCV000741796] Chr22:22312879..22584809 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22312879-22599568)x3 copy number gain not provided [RCV000741797] Chr22:22312879..22599568 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22313591-22573637)x1 copy number loss not provided [RCV000741798] Chr22:22313591..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22313591-22573637)x3 copy number gain not provided [RCV000741799] Chr22:22313591..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22313591-22594113)x3 copy number gain not provided [RCV000741800] Chr22:22313591..22594113 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22314463-22564646)x3 copy number gain not provided [RCV000741801] Chr22:22314463..22564646 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22314463-22573637)x3 copy number gain not provided [RCV000741802] Chr22:22314463..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22315312-22573637)x3 copy number gain not provided [RCV000741803] Chr22:22315312..22573637 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22316631-22594113)x3 copy number gain not provided [RCV000741804] Chr22:22316631..22594113 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.22(chr22:22333637-22564646)x3 copy number gain not provided [RCV000741805] Chr22:22333637..22564646 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001282112.2(TOP3B):c.1197C>T (p.Ala399=) single nucleotide variant TOP3B-related disorder [RCV003958392]|not provided [RCV000916935] Chr22:21963930 [GRCh38]
Chr22:22318302 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1135C>T (p.Arg379Trp) single nucleotide variant TOP3B-related disorder [RCV003950652]|not provided [RCV000905663] Chr22:21963992 [GRCh38]
Chr22:22318364 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1215G>A (p.Ala405=) single nucleotide variant not provided [RCV000916168] Chr22:21962883 [GRCh38]
Chr22:22317255 [GRCh37]
Chr22:22q11.22		 likely benign
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_001282112.2(TOP3B):c.165G>A (p.Thr55=) single nucleotide variant TOP3B-related disorder [RCV003926230]|not provided [RCV000964051] Chr22:21974394 [GRCh38]
Chr22:22328766 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.2193C>T (p.Ser731=) single nucleotide variant not provided [RCV000949108] Chr22:21957510 [GRCh38]
Chr22:22311882 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.1338C>T (p.Thr446=) single nucleotide variant TOP3B-related disorder [RCV003928452]|not provided [RCV000968792] Chr22:21962760 [GRCh38]
Chr22:22317132 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) copy number gain not provided [RCV000767631] Chr22:21800032..23237674 [GRCh37]
Chr22:22q11.21-11.22		 likely pathogenic
NM_001282112.2(TOP3B):c.1655-6T>C single nucleotide variant TOP3B-related disorder [RCV003928416]|not provided [RCV000966683] Chr22:21959742 [GRCh38]
Chr22:22314114 [GRCh37]
Chr22:22q11.22		 benign|likely benign
GRCh37/hg19 22q11.22(chr22:22255329-23321856) copy number gain not provided [RCV000767632] Chr22:22255329..23321856 [GRCh37]
Chr22:22q11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NC_000022.10:g.21808950_22963000del1154051 deletion Chromosome 22q11.2 deletion syndrome, distal [RCV000785668] Chr22:21808950..22963000 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3 copy number gain not provided [RCV000849651] Chr22:21915095..22603542 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:22130525-22485776)x3 copy number gain not provided [RCV000847578] Chr22:22130525..22485776 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 copy number loss not provided [RCV000849290] Chr22:21798906..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1 copy number loss Autism [RCV000993709] Chr22:22320654..22566334 [GRCh37]
Chr22:22q11.22		 likely pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1 copy number loss not provided [RCV001007497] Chr22:21947428..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:22053830-22373083)x3 copy number gain not provided [RCV001007500] Chr22:22053830..22373083 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 copy number loss not provided [RCV000848992] Chr22:21922619..23654064 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_001282112.2(TOP3B):c.2489G>A (p.Arg830Lys) single nucleotide variant not specified [RCV004298414] Chr22:21957214 [GRCh38]
Chr22:22311586 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.505G>A (p.Glu169Lys) single nucleotide variant not specified [RCV004282275] Chr22:21970286 [GRCh38]
Chr22:22324658 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2107+7G>A single nucleotide variant not provided [RCV000887640] Chr22:21958485 [GRCh38]
Chr22:22312857 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.354C>T (p.Cys118=) single nucleotide variant TOP3B-related disorder [RCV003933309]|not provided [RCV000951162] Chr22:21971907 [GRCh38]
Chr22:22326279 [GRCh37]
Chr22:22q11.22		 benign|likely benign
NM_001282112.2(TOP3B):c.384+8T>C single nucleotide variant TOP3B-related disorder [RCV003903320]|not provided [RCV000958177] Chr22:21971869 [GRCh38]
Chr22:22326241 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.1013G>A (p.Arg338Gln) single nucleotide variant not specified [RCV004326847] Chr22:21964246 [GRCh38]
Chr22:22318618 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:22044995-22335910)x3 copy number gain not provided [RCV001007499] Chr22:22044995..22335910 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001199824] Chr22:21914652..22922798 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3 copy number gain See cases [RCV001194531] Chr22:21979096..22941426 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:22079945-22587762)x3 copy number gain not provided [RCV001259985] Chr22:22079945..22587762 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1 copy number loss not provided [RCV001259986] Chr22:21798906..23805099 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001282112.2(TOP3B):c.2386C>T (p.Gln796Ter) single nucleotide variant not provided [RCV001727216] Chr22:21957317 [GRCh38]
Chr22:22311689 [GRCh37]
Chr22:22q11.22		 uncertain significance
NC_000022.10:g.21514655_22986816del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001250235] Chr22:21514655..22986816 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV001801181] Chr22:21905051..22989041 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3 copy number gain not provided [RCV001827693] Chr22:21974641..22401879 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1 copy number loss not provided [RCV002472582] Chr22:21465662..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3 copy number gain not provided [RCV002474494] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_001282112.2(TOP3B):c.1214C>T (p.Ala405Val) single nucleotide variant not specified [RCV004083901] Chr22:21962884 [GRCh38]
Chr22:22317256 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1073C>A (p.Ala358Asp) single nucleotide variant not specified [RCV004139918] Chr22:21964186 [GRCh38]
Chr22:22318558 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1627G>A (p.Val543Ile) single nucleotide variant not specified [RCV004212937] Chr22:21960348 [GRCh38]
Chr22:22314720 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.110C>T (p.Ser37Leu) single nucleotide variant not specified [RCV004159215] Chr22:21974449 [GRCh38]
Chr22:22328821 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2494G>A (p.Gly832Ser) single nucleotide variant not specified [RCV004150938] Chr22:21957209 [GRCh38]
Chr22:22311581 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2179G>C (p.Val727Leu) single nucleotide variant not specified [RCV004237912] Chr22:21957524 [GRCh38]
Chr22:22311896 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.869G>A (p.Arg290Lys) single nucleotide variant not specified [RCV004205838] Chr22:21965359 [GRCh38]
Chr22:22319731 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.181G>A (p.Val61Met) single nucleotide variant not specified [RCV004162632] Chr22:21974378 [GRCh38]
Chr22:22328750 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1058C>T (p.Ser353Phe) single nucleotide variant not specified [RCV004238054] Chr22:21964201 [GRCh38]
Chr22:22318573 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.613G>A (p.Gly205Ser) single nucleotide variant not specified [RCV004109244] Chr22:21968744 [GRCh38]
Chr22:22323116 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2317G>A (p.Val773Ile) single nucleotide variant not specified [RCV004106043] Chr22:21957386 [GRCh38]
Chr22:22311758 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1198G>A (p.Glu400Lys) single nucleotide variant not specified [RCV004202378] Chr22:21963929 [GRCh38]
Chr22:22318301 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1153G>A (p.Gly385Ser) single nucleotide variant not specified [RCV004201545] Chr22:21963974 [GRCh38]
Chr22:22318346 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1150G>A (p.Ala384Thr) single nucleotide variant not specified [RCV004084899] Chr22:21963977 [GRCh38]
Chr22:22318349 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.799C>T (p.Arg267Trp) single nucleotide variant not specified [RCV004200981] Chr22:21967656 [GRCh38]
Chr22:22322028 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.515A>G (p.His172Arg) single nucleotide variant not specified [RCV004140227] Chr22:21970276 [GRCh38]
Chr22:22324648 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1064G>A (p.Arg355Gln) single nucleotide variant not specified [RCV004212722] Chr22:21964195 [GRCh38]
Chr22:22318567 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2290G>A (p.Val764Met) single nucleotide variant not specified [RCV004180510] Chr22:21957413 [GRCh38]
Chr22:22311785 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2473G>A (p.Gly825Ser) single nucleotide variant not specified [RCV004076983] Chr22:21957230 [GRCh38]
Chr22:22311602 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.164C>T (p.Thr55Met) single nucleotide variant not specified [RCV004131677] Chr22:21974395 [GRCh38]
Chr22:22328767 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2540C>G (p.Pro847Arg) single nucleotide variant not specified [RCV004273646] Chr22:21957163 [GRCh38]
Chr22:22311535 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2575G>A (p.Ala859Thr) single nucleotide variant not specified [RCV004322514] Chr22:21957128 [GRCh38]
Chr22:22311500 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.406G>A (p.Val136Ile) single nucleotide variant not specified [RCV004287090] Chr22:21970385 [GRCh38]
Chr22:22324757 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2260G>T (p.Val754Leu) single nucleotide variant not specified [RCV004316469] Chr22:21957443 [GRCh38]
Chr22:22311815 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1172C>T (p.Thr391Ile) single nucleotide variant not specified [RCV004291020] Chr22:21963955 [GRCh38]
Chr22:22318327 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1106G>A (p.Arg369Gln) single nucleotide variant not specified [RCV004337882] Chr22:21964021 [GRCh38]
Chr22:22318393 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.2401G>A (p.Val801Ile) single nucleotide variant not specified [RCV004347323] Chr22:21957302 [GRCh38]
Chr22:22311674 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.808G>A (p.Ala270Thr) single nucleotide variant not specified [RCV004348549] Chr22:21967647 [GRCh38]
Chr22:22322019 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2107+2T>C single nucleotide variant TOP3B-related disorder [RCV003394311] Chr22:21958490 [GRCh38]
Chr22:22312862 [GRCh37]
Chr22:22q11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1 copy number loss not provided [RCV003483390] Chr22:21465662..22997928 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:22043937-22728895)x3 copy number gain not provided [RCV003485240] Chr22:22043937..22728895 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3 copy number gain not provided [RCV003485239] Chr22:21798907..23652586 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_001282112.2(TOP3B):c.2275G>A (p.Glu759Lys) single nucleotide variant not provided [RCV003431669] Chr22:21957428 [GRCh38]
Chr22:22311800 [GRCh37]
Chr22:22q11.22		 benign
GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1 copy number loss not provided [RCV003483391] Chr22:21916217..24060551 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_001282112.2(TOP3B):c.2220G>A (p.Ser740=) single nucleotide variant not provided [RCV003431670] Chr22:21957483 [GRCh38]
Chr22:22311855 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.2023C>G (p.Leu675Val) single nucleotide variant TOP3B-related disorder [RCV003406025] Chr22:21958576 [GRCh38]
Chr22:22312948 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.726G>T (p.Val242=) single nucleotide variant TOP3B-related disorder [RCV003939261]|not provided [RCV003885735] Chr22:21968631 [GRCh38]
Chr22:22323003 [GRCh37]
Chr22:22q11.22		 likely benign
GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3 copy number gain not provided [RCV004442791] Chr22:21804597..24629406 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
NM_001282112.2(TOP3B):c.1281G>T (p.Leu427=) single nucleotide variant TOP3B-related disorder [RCV003956751] Chr22:21962817 [GRCh38]
Chr22:22317189 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.402G>A (p.Leu134=) single nucleotide variant TOP3B-related disorder [RCV003909268] Chr22:21970389 [GRCh38]
Chr22:22324761 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1093G>A (p.Asp365Asn) single nucleotide variant TOP3B-related disorder [RCV003973988] Chr22:21964166 [GRCh38]
Chr22:22318538 [GRCh37]
Chr22:22q11.22		 benign
NC_000022.10:g.(?_21797384)_(23630313_?)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003885333] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_001282112.2(TOP3B):c.654G>A (p.Gln218=) single nucleotide variant TOP3B-related disorder [RCV003931479] Chr22:21968703 [GRCh38]
Chr22:22323075 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.1415G>A (p.Arg472Gln) single nucleotide variant TOP3B-related disorder [RCV003964468] Chr22:21962539 [GRCh38]
Chr22:22316911 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1352-10A>C single nucleotide variant TOP3B-related disorder [RCV003932156] Chr22:21962612 [GRCh38]
Chr22:22316984 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.310-4del deletion TOP3B-related disorder [RCV003979633] Chr22:21971955 [GRCh38]
Chr22:22326327 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.1145A>G (p.His382Arg) single nucleotide variant TOP3B-related disorder [RCV003984710] Chr22:21963982 [GRCh38]
Chr22:22318354 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.852+3G>A single nucleotide variant TOP3B-related disorder [RCV003964219] Chr22:21967600 [GRCh38]
Chr22:22321972 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1583C>T (p.Thr528Met) single nucleotide variant TOP3B-related disorder [RCV003969702] Chr22:21960392 [GRCh38]
Chr22:22314764 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1593C>T (p.Ser531=) single nucleotide variant TOP3B-related disorder [RCV003934089] Chr22:21960382 [GRCh38]
Chr22:22314754 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.558G>A (p.Leu186=) single nucleotide variant TOP3B-related disorder [RCV003934172] Chr22:21970233 [GRCh38]
Chr22:22324605 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.1818G>A (p.Leu606=) single nucleotide variant TOP3B-related disorder [RCV003934405] Chr22:21959219 [GRCh38]
Chr22:22313591 [GRCh37]
Chr22:22q11.22		 likely benign
NM_001282112.2(TOP3B):c.960C>T (p.His320=) single nucleotide variant TOP3B-related disorder [RCV003976286] Chr22:21964299 [GRCh38]
Chr22:22318671 [GRCh37]
Chr22:22q11.22		 benign
NM_001282112.2(TOP3B):c.1759G>C (p.Asp587His) single nucleotide variant not specified [RCV004468079] Chr22:21959632 [GRCh38]
Chr22:22314004 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1624A>G (p.Ile542Val) single nucleotide variant not specified [RCV004468077] Chr22:21960351 [GRCh38]
Chr22:22314723 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2290G>T (p.Val764Leu) single nucleotide variant not specified [RCV004468080] Chr22:21957413 [GRCh38]
Chr22:22311785 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2468A>G (p.His823Arg) single nucleotide variant not specified [RCV004468083] Chr22:21957235 [GRCh38]
Chr22:22311607 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2504G>A (p.Arg835Gln) single nucleotide variant not specified [RCV004468086] Chr22:21957199 [GRCh38]
Chr22:22311571 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1601G>A (p.Arg534Gln) single nucleotide variant not specified [RCV004468076] Chr22:21960374 [GRCh38]
Chr22:22314746 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1736G>A (p.Arg579His) single nucleotide variant not specified [RCV004468078] Chr22:21959655 [GRCh38]
Chr22:22314027 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2375G>A (p.Gly792Asp) single nucleotide variant not specified [RCV004468082] Chr22:21957328 [GRCh38]
Chr22:22311700 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2476G>A (p.Gly826Arg) single nucleotide variant not specified [RCV004468085] Chr22:21957227 [GRCh38]
Chr22:22311599 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1036G>A (p.Glu346Lys) single nucleotide variant not specified [RCV004468072] Chr22:21964223 [GRCh38]
Chr22:22318595 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1438G>A (p.Glu480Lys) single nucleotide variant not specified [RCV004468075] Chr22:21962516 [GRCh38]
Chr22:22316888 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1330G>A (p.Gly444Arg) single nucleotide variant not specified [RCV004468074] Chr22:21962768 [GRCh38]
Chr22:22317140 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2470C>G (p.Arg824Gly) single nucleotide variant not specified [RCV004468084] Chr22:21957233 [GRCh38]
Chr22:22311605 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1265A>G (p.His422Arg) single nucleotide variant not specified [RCV004468073] Chr22:21962833 [GRCh38]
Chr22:22317205 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.478A>T (p.Ile160Phe) single nucleotide variant not specified [RCV004468087] Chr22:21970313 [GRCh38]
Chr22:22324685 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1305T>G (p.Ile435Met) single nucleotide variant not specified [RCV004687572] Chr22:21962793 [GRCh38]
Chr22:22317165 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.703T>C (p.Phe235Leu) single nucleotide variant not specified [RCV004677117] Chr22:21968654 [GRCh38]
Chr22:22323026 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2135C>T (p.Pro712Leu) single nucleotide variant not specified [RCV004677118] Chr22:21957568 [GRCh38]
Chr22:22311940 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2510G>A (p.Arg837Gln) single nucleotide variant not specified [RCV004677112] Chr22:21957193 [GRCh38]
Chr22:22311565 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2377G>A (p.Asp793Asn) single nucleotide variant not specified [RCV004677113] Chr22:21957326 [GRCh38]
Chr22:22311698 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.1484C>T (p.Thr495Met) single nucleotide variant not specified [RCV004677114] Chr22:21962470 [GRCh38]
Chr22:22316842 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.2056C>T (p.Pro686Ser) single nucleotide variant not specified [RCV004677115] Chr22:21958543 [GRCh38]
Chr22:22312915 [GRCh37]
Chr22:22q11.22		 uncertain significance
NM_001282112.2(TOP3B):c.429C>T (p.Gly143=) single nucleotide variant TOP3B-related disorder [RCV004755238] Chr22:21970362 [GRCh38]
Chr22:22324734 [GRCh37]
Chr22:22q11.22		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9089
Count of miRNA genes:1193
Interacting mature miRNAs:1529
Transcripts:ENST00000357179, ENST00000398793, ENST00000413067, ENST00000424393, ENST00000430142, ENST00000434517, ENST00000436282, ENST00000437103, ENST00000437929, ENST00000442653, ENST00000444502, ENST00000449704, ENST00000456075, ENST00000457179, ENST00000457270, ENST00000470338, ENST00000487485, ENST00000489581
Prediction methods:Microtar, Miranda, Rnahybrid
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
407171172GWAS820148_Hage at menopause QTL GWAS820148 (human)3e-09age at menopause222196776621967767Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407387259GWAS1036235_Hmacrophage inflammatory protein 1b measurement QTL GWAS1036235 (human)0.000004macrophage inflammatory protein 1b measurement222196117521961176Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407172530GWAS821506_Hage at menopause QTL GWAS821506 (human)8e-08age at menopause222196776621967767Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2786 2244 4933 1712 2334 6 610 1868 451 2268 7190 6373 53 3695 1 849 1735 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF053082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI361851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI908256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ270362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF137541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN302239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN353231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN353232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR980357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT002728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA025312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA124773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA796433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB134726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB137508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB146985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB150453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB165571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357179   ⟹   ENSP00000349705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,025 - 21,982,787 (-)Ensembl
Ensembl Acc Id: ENST00000398793   ⟹   ENSP00000381773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,031 - 21,982,750 (-)Ensembl
Ensembl Acc Id: ENST00000424393   ⟹   ENSP00000390977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,968,619 - 21,982,780 (-)Ensembl
Ensembl Acc Id: ENST00000430142   ⟹   ENSP00000414538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,971,897 - 21,982,813 (-)Ensembl
Ensembl Acc Id: ENST00000434517   ⟹   ENSP00000390824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,975,646 - 21,982,773 (-)Ensembl
Ensembl Acc Id: ENST00000436282   ⟹   ENSP00000416451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,032 - 21,967,650 (-)Ensembl
Ensembl Acc Id: ENST00000437103   ⟹   ENSP00000387554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,974,433 - 21,982,793 (-)Ensembl
Ensembl Acc Id: ENST00000437929   ⟹   ENSP00000402622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,971,895 - 21,982,766 (-)Ensembl
Ensembl Acc Id: ENST00000442653   ⟹   ENSP00000390209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,974,419 - 21,975,969 (-)Ensembl
Ensembl Acc Id: ENST00000444502   ⟹   ENSP00000392480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,031 - 21,982,790 (-)Ensembl
Ensembl Acc Id: ENST00000449704   ⟹   ENSP00000404600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,974,379 - 21,982,787 (-)Ensembl
Ensembl Acc Id: ENST00000456075   ⟹   ENSP00000391857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,974,376 - 21,982,766 (-)Ensembl
Ensembl Acc Id: ENST00000457179   ⟹   ENSP00000397221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,027 - 21,982,790 (-)Ensembl
Ensembl Acc Id: ENST00000457270   ⟹   ENSP00000408282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,957,027 - 21,968,740 (-)Ensembl
Ensembl Acc Id: ENST00000470338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,962,128 - 21,962,895 (-)Ensembl
Ensembl Acc Id: ENST00000487485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,970,335 - 21,971,632 (-)Ensembl
Ensembl Acc Id: ENST00000489581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,972,219 - 21,975,796 (-)Ensembl
RefSeq Acc Id: NM_001282112   ⟹   NP_001269041
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
HuRef225,268,473 - 5,294,289 (-)NCBI
CHM1_12222,311,495 - 22,337,313 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282113   ⟹   NP_001269042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
HuRef225,268,473 - 5,294,289 (-)NCBI
CHM1_12222,311,495 - 22,337,313 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349845   ⟹   NP_001336774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349847   ⟹   NP_001336776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349848   ⟹   NP_001336777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349850   ⟹   NP_001336779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349851   ⟹   NP_001336780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349852   ⟹   NP_001336781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003935   ⟹   NP_003926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
GRCh372222,311,397 - 22,337,219 (-)NCBI
Build 362220,641,403 - 20,667,147 (-)NCBI Archive
HuRef225,268,473 - 5,294,289 (-)NCBI
CHM1_12222,311,495 - 22,337,313 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146277
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,957,025 - 21,982,787 (-)NCBI
T2T-CHM13v2.02222,370,556 - 22,396,320 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269041 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269042 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336776 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336777 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336779 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336780 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336781 (Get FASTA)   NCBI Sequence Viewer  
  NP_003926 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD01614 (Get FASTA)   NCBI Sequence Viewer  
  AAD15791 (Get FASTA)   NCBI Sequence Viewer  
  AAD29670 (Get FASTA)   NCBI Sequence Viewer  
  AAH02432 (Get FASTA)   NCBI Sequence Viewer  
  BAA20009 (Get FASTA)   NCBI Sequence Viewer  
  BAF83686 (Get FASTA)   NCBI Sequence Viewer  
  BAG53351 (Get FASTA)   NCBI Sequence Viewer  
  BAG65452 (Get FASTA)   NCBI Sequence Viewer  
  BAG65474 (Get FASTA)   NCBI Sequence Viewer  
  CAG30482 (Get FASTA)   NCBI Sequence Viewer  
  EAW59487 (Get FASTA)   NCBI Sequence Viewer  
  EAW59488 (Get FASTA)   NCBI Sequence Viewer  
  EAW59489 (Get FASTA)   NCBI Sequence Viewer  
  EAW59490 (Get FASTA)   NCBI Sequence Viewer  
  EAW59491 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000349705
  ENSP00000349705.5
  ENSP00000381773
  ENSP00000381773.2
  ENSP00000387554.1
  ENSP00000390209.1
  ENSP00000390824.1
  ENSP00000390977.1
  ENSP00000391857.1
  ENSP00000392480.1
  ENSP00000397221.1
  ENSP00000402622.1
  ENSP00000404600.1
  ENSP00000408282
  ENSP00000408282.1
  ENSP00000414538.1
  ENSP00000416451.1
GenBank Protein O95985 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003926   ⟸   NM_003935
- Peptide Label: isoform 1
- UniProtKB: A0M8Q3 (UniProtKB/Swiss-Prot),   Q9BUP5 (UniProtKB/Swiss-Prot),   O95985 (UniProtKB/Swiss-Prot),   A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269042   ⟸   NM_001282113
- Peptide Label: isoform 1
- UniProtKB: A0M8Q3 (UniProtKB/Swiss-Prot),   Q9BUP5 (UniProtKB/Swiss-Prot),   O95985 (UniProtKB/Swiss-Prot),   A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269041   ⟸   NM_001282112
- Peptide Label: isoform 1
- UniProtKB: A0M8Q3 (UniProtKB/Swiss-Prot),   Q9BUP5 (UniProtKB/Swiss-Prot),   O95985 (UniProtKB/Swiss-Prot),   A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336777   ⟸   NM_001349848
- Peptide Label: isoform 2
- UniProtKB: A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336780   ⟸   NM_001349851
- Peptide Label: isoform 3
- UniProtKB: H0Y6W0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336776   ⟸   NM_001349847
- Peptide Label: isoform 1
- UniProtKB: O95985 (UniProtKB/Swiss-Prot),   A0M8Q3 (UniProtKB/Swiss-Prot),   Q9BUP5 (UniProtKB/Swiss-Prot),   A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336774   ⟸   NM_001349845
- Peptide Label: isoform 1
- UniProtKB: O95985 (UniProtKB/Swiss-Prot),   A0M8Q3 (UniProtKB/Swiss-Prot),   Q9BUP5 (UniProtKB/Swiss-Prot),   A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336779   ⟸   NM_001349850
- Peptide Label: isoform 2
- UniProtKB: A8K4N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336781   ⟸   NM_001349852
- Peptide Label: isoform 3
- UniProtKB: H0Y6W0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000381773   ⟸   ENST00000398793
Ensembl Acc Id: ENSP00000402622   ⟸   ENST00000437929
Ensembl Acc Id: ENSP00000390977   ⟸   ENST00000424393
Ensembl Acc Id: ENSP00000391857   ⟸   ENST00000456075
Ensembl Acc Id: ENSP00000390209   ⟸   ENST00000442653
Ensembl Acc Id: ENSP00000408282   ⟸   ENST00000457270
Ensembl Acc Id: ENSP00000397221   ⟸   ENST00000457179
Ensembl Acc Id: ENSP00000392480   ⟸   ENST00000444502
Ensembl Acc Id: ENSP00000414538   ⟸   ENST00000430142
Ensembl Acc Id: ENSP00000390824   ⟸   ENST00000434517
Ensembl Acc Id: ENSP00000404600   ⟸   ENST00000449704
Ensembl Acc Id: ENSP00000416451   ⟸   ENST00000436282
Ensembl Acc Id: ENSP00000349705   ⟸   ENST00000357179
Ensembl Acc Id: ENSP00000387554   ⟸   ENST00000437103
Protein Domains
DNA topoisomerase type IA DNA-binding   Topo IA-type catalytic   Toprim

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95985-F1-model_v2 AlphaFold O95985 1-862 view protein structure

Promoters
RGD ID:6815412
Promoter ID:HG_MRA:10368
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF070585
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,644,481 - 20,644,981 (-)MPROMDB
RGD ID:6800426
Promoter ID:HG_KWN:41790
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320265
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,647,316 - 20,648,067 (-)MPROMDB
RGD ID:6800429
Promoter ID:HG_KWN:41791
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC010GTM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,652,316 - 20,652,817 (-)MPROMDB
RGD ID:6800425
Promoter ID:HG_KWN:41793
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320264
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,655,666 - 20,656,417 (-)MPROMDB
RGD ID:6800428
Promoter ID:HG_KWN:41794
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000334363
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,658,216 - 20,658,716 (-)MPROMDB
RGD ID:6800423
Promoter ID:HG_KWN:41795
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000320262,   OTTHUMT00000320263
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,660,716 - 20,661,216 (-)MPROMDB
RGD ID:6800427
Promoter ID:HG_KWN:41796
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:ENST00000357179,   ENST00000398789,   NM_003935,   OTTHUMT00000320250,   OTTHUMT00000320252,   OTTHUMT00000320255,   OTTHUMT00000320256,   OTTHUMT00000320257,   OTTHUMT00000320258,   OTTHUMT00000320259,   OTTHUMT00000320260,   OTTHUMT00000320261,   UC010GTL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,666,901 - 20,667,401 (-)MPROMDB
RGD ID:13603338
Promoter ID:EPDNEW_H27853
Type:initiation region
Name:TOP3B_1
Description:topoisomerase III beta
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
GRCh382221,982,787 - 21,982,847EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11993 AgrOrtholog
COSMIC TOP3B COSMIC
Ensembl Genes ENSG00000100038 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357179 ENTREZGENE
  ENST00000357179.10 UniProtKB/Swiss-Prot
  ENST00000398793 ENTREZGENE
  ENST00000398793.6 UniProtKB/Swiss-Prot
  ENST00000424393.5 UniProtKB/TrEMBL
  ENST00000430142.5 UniProtKB/TrEMBL
  ENST00000434517.1 UniProtKB/TrEMBL
  ENST00000436282.1 UniProtKB/TrEMBL
  ENST00000437103.1 UniProtKB/TrEMBL
  ENST00000437929.5 UniProtKB/TrEMBL
  ENST00000442653.1 UniProtKB/TrEMBL
  ENST00000444502 ENTREZGENE
  ENST00000444502.5 UniProtKB/TrEMBL
  ENST00000449704.5 UniProtKB/TrEMBL
  ENST00000456075.5 UniProtKB/TrEMBL
  ENST00000457179.5 UniProtKB/TrEMBL
  ENST00000457270 ENTREZGENE
  ENST00000457270.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.290.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.460.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100038 GTEx
HGNC ID HGNC:11993 ENTREZGENE
Human Proteome Map TOP3B Human Proteome Map
InterPro Topo_IA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_core_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_DNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOPRIM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOPRIM_TopoIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8940 UniProtKB/Swiss-Prot
NCBI Gene 8940 ENTREZGENE
OMIM 603582 OMIM
PANTHER DNA TOPOISOMERASE 3-BETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Topoisom_bac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toprim UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36674 PharmGKB
PRINTS PRTPISMRASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TOPO_IA_2 UniProtKB/Swiss-Prot
  TOPOISOMERASE_I_PROK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOPRIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TOP1Ac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOP1Bc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOPRIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0M8Q3 ENTREZGENE
  A8K4N2 ENTREZGENE, UniProtKB/TrEMBL
  C9J9X4_HUMAN UniProtKB/TrEMBL
  C9JEI7_HUMAN UniProtKB/TrEMBL
  C9JEQ1_HUMAN UniProtKB/TrEMBL
  C9JF56_HUMAN UniProtKB/TrEMBL
  C9JHR0_HUMAN UniProtKB/TrEMBL
  C9JKE2_HUMAN UniProtKB/TrEMBL
  C9JT00_HUMAN UniProtKB/TrEMBL
  C9JTQ7_HUMAN UniProtKB/TrEMBL
  F2Z2A5_HUMAN UniProtKB/TrEMBL
  H0Y6W0 ENTREZGENE, UniProtKB/TrEMBL
  H7C4B0_HUMAN UniProtKB/TrEMBL
  O95985 ENTREZGENE
  Q9BUP5 ENTREZGENE
  TOP3B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0M8Q3 UniProtKB/Swiss-Prot
  Q9BUP5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 TOP3B  DNA topoisomerase III beta  TOP3B  topoisomerase (DNA) III beta  Symbol and/or name change 5135510 APPROVED