HDAC10 (histone deacetylase 10) - Rat Genome Database

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Gene: HDAC10 (histone deacetylase 10) Homo sapiens
Analyze
Symbol: HDAC10
Name: histone deacetylase 10
RGD ID: 1314168
HGNC Page HGNC:18128
Description: Enables histone deacetylase activity and histone deacetylase binding activity. Involved in several processes, including homologous recombination; regulation of nucleobase-containing compound metabolic process; and spermidine deacetylation. Located in cytosol and nucleoplasm. Part of histone deacetylase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp761B039; HD10; MGC149722; polyamine deacetylase HDAC10
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
GRCh382250,245,183 - 50,251,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,245,183 - 50,251,405 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,683,612 - 50,689,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,025,739 - 49,031,941 (-)NCBINCBI36Build 36hg18NCBI36
Build 342248,986,071 - 48,992,271NCBI
Celera2234,558,514 - 34,564,737 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,581,335 - 33,587,801 (-)NCBIHuRef
CHM1_12250,642,365 - 50,648,588 (-)NCBICHM1_1
T2T-CHM13v2.02250,752,185 - 50,758,268 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Physical and functional HAT/HDAC interplay regulates protein acetylation balance. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:11677242   PMID:11726666   PMID:11739383   PMID:11861901   PMID:12477932   PMID:14578343   PMID:14670976   PMID:14759258   PMID:15305372   PMID:15461802  
PMID:15489334   PMID:17172643   PMID:17892858   PMID:19913121   PMID:20032463   PMID:20471694   PMID:20628086   PMID:20680488   PMID:21247901   PMID:21873635   PMID:22730529   PMID:22989952  
PMID:23752268   PMID:23801752   PMID:23897811   PMID:24145760   PMID:24927181   PMID:25337229   PMID:25963833   PMID:26221039   PMID:26240284   PMID:26514267   PMID:27449083   PMID:28514442  
PMID:28515276   PMID:28516954   PMID:29968769   PMID:30057199   PMID:30204052   PMID:30515817   PMID:31391242   PMID:31862140   PMID:31888084   PMID:32814053   PMID:33481334   PMID:33493381  
PMID:33961781   PMID:36861887   PMID:37657752  


Genomics

Comparative Map Data
HDAC10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,245,183 - 50,251,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,245,183 - 50,251,405 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,683,612 - 50,689,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,025,739 - 49,031,941 (-)NCBINCBI36Build 36hg18NCBI36
Build 342248,986,071 - 48,992,271NCBI
Celera2234,558,514 - 34,564,737 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,581,335 - 33,587,801 (-)NCBIHuRef
CHM1_12250,642,365 - 50,648,588 (-)NCBICHM1_1
T2T-CHM13v2.02250,752,185 - 50,758,268 (-)NCBIT2T-CHM13v2.0
Hdac10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,007,506 - 89,012,903 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,007,510 - 89,012,903 (-)EnsemblGRCm39 Ensembl
GRCm381589,123,303 - 89,128,700 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,123,307 - 89,128,700 (-)EnsemblGRCm38mm10GRCm38
MGSCv371588,953,733 - 88,959,130 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361588,951,071 - 88,956,393 (-)NCBIMGSCv36mm8
Celera1591,251,865 - 91,257,263 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.64NCBI
Hdac10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87122,078,768 - 122,084,457 (-)NCBIGRCr8
mRatBN7.27120,199,126 - 120,205,850 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,199,129 - 120,204,228 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7121,950,152 - 121,955,255 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07124,176,317 - 124,181,420 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07124,139,323 - 124,144,426 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07130,102,335 - 130,109,036 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,102,347 - 130,107,437 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07129,788,051 - 129,794,135 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,423,736 - 127,428,838 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,459,992 - 127,462,839 (-)NCBI
Celera7116,673,021 - 116,678,123 (-)NCBICelera
Cytogenetic Map7q34NCBI
Hdac10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,272,714 - 33,277,686 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,272,600 - 33,277,893 (-)NCBIChiLan1.0ChiLan1.0
HDAC10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,150,932 - 60,158,556 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12262,837,088 - 62,844,697 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,473,753 - 30,481,369 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,473,369 - 49,479,251 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,473,369 - 49,479,216 (-)Ensemblpanpan1.1panPan2
HDAC10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,996,307 - 17,001,365 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,995,762 - 17,078,262 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1016,974,507 - 16,979,565 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01017,723,533 - 17,728,591 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,722,764 - 17,728,591 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,447,560 - 17,452,618 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,770,649 - 17,775,707 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,902,859 - 17,907,917 (+)NCBIUU_Cfam_GSD_1.0
Hdac10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945562,006 - 567,709 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629562,022 - 567,822 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629562,038 - 567,709 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HDAC10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5439,808 - 445,334 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15439,142 - 445,337 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,662,633 - 110,668,163 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HDAC10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,735,091 - 32,741,200 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,735,406 - 32,740,817 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,613,492 - 92,620,124 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hdac10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624752518,563 - 524,497 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HDAC10
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 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
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 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 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 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 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50645586-50949482) copy number loss Abnormal esophagus morphology [RCV000416670] Chr22:50645586..50949482 [GRCh37]
Chr22:22q13.33		 uncertain significance
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 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 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 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_032019.6(HDAC10):c.1576A>C (p.Ser526Arg) single nucleotide variant Inborn genetic diseases [RCV003251775] Chr22:50246372 [GRCh38]
Chr22:50684801 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1963G>C (p.Glu655Gln) single nucleotide variant Inborn genetic diseases [RCV003261016] Chr22:50245698 [GRCh38]
Chr22:50684127 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.730C>T (p.His244Tyr) single nucleotide variant Inborn genetic diseases [RCV003239629] Chr22:50249129 [GRCh38]
Chr22:50687558 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
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 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_032019.6(HDAC10):c.*238C>A single nucleotide variant not provided [RCV001546375] Chr22:50245269 [GRCh38]
Chr22:50683698 [GRCh37]
Chr22:22q13.33		 likely benign
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 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50555635-50710349)x3 copy number gain not provided [RCV000742096] Chr22:50555635..50710349 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50682728-50724648)x3 copy number gain not provided [RCV000742100] Chr22:50682728..50724648 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50684747-50724648)x3 copy number gain not provided [RCV000742101] Chr22:50684747..50724648 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50684771-50724504)x3 copy number gain not provided [RCV000742102] Chr22:50684771..50724504 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50684772-50721495)x3 copy number gain not provided [RCV000742103] Chr22:50684772..50721495 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50688348-50721495)x3 copy number gain not provided [RCV000742104] Chr22:50688348..50721495 [GRCh37]
Chr22:22q13.33		 benign
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
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.(?_50225794)_(50255881_?)dup duplication not provided [RCV001032404] Chr22:50664223..50694310 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50651883-50859165)x3 copy number gain not provided [RCV000849943] Chr22:50651883..50859165 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_032019.6(HDAC10):c.287A>G (p.His96Arg) single nucleotide variant Inborn genetic diseases [RCV003249603] Chr22:50250431 [GRCh38]
Chr22:50688860 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1575G>T (p.Arg525Ser) single nucleotide variant Inborn genetic diseases [RCV003251774] Chr22:50246373 [GRCh38]
Chr22:50684802 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.*278C>G single nucleotide variant not provided [RCV001555406] Chr22:50245229 [GRCh38]
Chr22:50683658 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 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
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50664223)_(50694310_?)dup duplication not provided [RCV001314892] Chr22:50664223..50694310 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50659287)_(50697352_?)del deletion not provided [RCV003109713] Chr22:50659287..50697352 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_032019.6(HDAC10):c.1639C>G (p.Pro547Ala) single nucleotide variant Inborn genetic diseases [RCV003256467] Chr22:50246309 [GRCh38]
Chr22:50684738 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50636593-50736663)x1 copy number loss not provided [RCV002472438] Chr22:50636593..50736663 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1072C>G (p.Gln358Glu) single nucleotide variant Inborn genetic diseases [RCV002902075] Chr22:50248234 [GRCh38]
Chr22:50686663 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.397G>A (p.Gly133Arg) single nucleotide variant Inborn genetic diseases [RCV002992775] Chr22:50249957 [GRCh38]
Chr22:50688386 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.116G>A (p.Arg39Gln) single nucleotide variant Inborn genetic diseases [RCV002794707] Chr22:50250849 [GRCh38]
Chr22:50689278 [GRCh37]
Chr22:22q13.33		 likely benign
NM_032019.6(HDAC10):c.82C>A (p.Pro28Thr) single nucleotide variant Inborn genetic diseases [RCV002751738] Chr22:50250883 [GRCh38]
Chr22:50689312 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.685A>C (p.Asn229His) single nucleotide variant Inborn genetic diseases [RCV002978147] Chr22:50249333 [GRCh38]
Chr22:50687762 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.238A>G (p.Lys80Glu) single nucleotide variant Inborn genetic diseases [RCV002976849] Chr22:50250480 [GRCh38]
Chr22:50688909 [GRCh37]
Chr22:22q13.33		 likely benign
NM_032019.6(HDAC10):c.1987T>C (p.Cys663Arg) single nucleotide variant Inborn genetic diseases [RCV002924704] Chr22:50245530 [GRCh38]
Chr22:50683959 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1462G>A (p.Ala488Thr) single nucleotide variant Inborn genetic diseases [RCV002976848] Chr22:50246927 [GRCh38]
Chr22:50685356 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.899T>C (p.Val300Ala) single nucleotide variant Inborn genetic diseases [RCV002984165] Chr22:50248669 [GRCh38]
Chr22:50687098 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1232G>T (p.Arg411Leu) single nucleotide variant Inborn genetic diseases [RCV003004287] Chr22:50247995 [GRCh38]
Chr22:50686424 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.854T>C (p.Leu285Pro) single nucleotide variant Inborn genetic diseases [RCV002768385] Chr22:50248714 [GRCh38]
Chr22:50687143 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.308C>T (p.Ala103Val) single nucleotide variant Inborn genetic diseases [RCV002983410] Chr22:50250144 [GRCh38]
Chr22:50688573 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.241G>A (p.Glu81Lys) single nucleotide variant Inborn genetic diseases [RCV002935632] Chr22:50250477 [GRCh38]
Chr22:50688906 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1605G>C (p.Glu535Asp) single nucleotide variant Inborn genetic diseases [RCV002652088] Chr22:50246343 [GRCh38]
Chr22:50684772 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.908G>A (p.Gly303Asp) single nucleotide variant Inborn genetic diseases [RCV002808730] Chr22:50248471 [GRCh38]
Chr22:50686900 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.158G>A (p.Arg53His) single nucleotide variant Inborn genetic diseases [RCV002719182] Chr22:50250807 [GRCh38]
Chr22:50689236 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.610C>A (p.Pro204Thr) single nucleotide variant Inborn genetic diseases [RCV002921065] Chr22:50249408 [GRCh38]
Chr22:50687837 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1726C>G (p.Leu576Val) single nucleotide variant Inborn genetic diseases [RCV002921481] Chr22:50246017 [GRCh38]
Chr22:50684446 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1748A>G (p.His583Arg) single nucleotide variant Inborn genetic diseases [RCV002921550] Chr22:50245995 [GRCh38]
Chr22:50684424 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1016C>T (p.Ala339Val) single nucleotide variant Inborn genetic diseases [RCV002656747] Chr22:50248290 [GRCh38]
Chr22:50686719 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1055C>T (p.Pro352Leu) single nucleotide variant Inborn genetic diseases [RCV003173155] Chr22:50248251 [GRCh38]
Chr22:50686680 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1792C>T (p.Arg598Trp) single nucleotide variant Inborn genetic diseases [RCV003208125] Chr22:50245951 [GRCh38]
Chr22:50684380 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1546C>T (p.Arg516Trp) single nucleotide variant Inborn genetic diseases [RCV003172964] Chr22:50246704 [GRCh38]
Chr22:50685133 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.469G>A (p.Ala157Thr) single nucleotide variant Inborn genetic diseases [RCV003193512] Chr22:50249885 [GRCh38]
Chr22:50688314 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.289C>T (p.Pro97Ser) single nucleotide variant Inborn genetic diseases [RCV003191723] Chr22:50250429 [GRCh38]
Chr22:50688858 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.35C>T (p.Thr12Met) single nucleotide variant Inborn genetic diseases [RCV003305780] Chr22:50250998 [GRCh38]
Chr22:50689427 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1597G>A (p.Gly533Ser) single nucleotide variant Inborn genetic diseases [RCV003309237] Chr22:50246351 [GRCh38]
Chr22:50684780 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
NM_032019.6(HDAC10):c.782C>T (p.Ser261Leu) single nucleotide variant Inborn genetic diseases [RCV003340291] Chr22:50248865 [GRCh38]
Chr22:50687294 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.229G>A (p.Val77Ile) single nucleotide variant Inborn genetic diseases [RCV003378809] Chr22:50250489 [GRCh38]
Chr22:50688918 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1018C>G (p.Leu340Val) single nucleotide variant Inborn genetic diseases [RCV003359352] Chr22:50248288 [GRCh38]
Chr22:50686717 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1147C>A (p.Pro383Thr) single nucleotide variant Inborn genetic diseases [RCV003349443] Chr22:50248080 [GRCh38]
Chr22:50686509 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1256C>G (p.Pro419Arg) single nucleotide variant Inborn genetic diseases [RCV003366847] Chr22:50247971 [GRCh38]
Chr22:50686400 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1612G>C (p.Ala538Pro) single nucleotide variant Inborn genetic diseases [RCV003383461] Chr22:50246336 [GRCh38]
Chr22:50684765 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.614T>C (p.Phe205Ser) single nucleotide variant Inborn genetic diseases [RCV003377187] Chr22:50249404 [GRCh38]
Chr22:50687833 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_032019.6(HDAC10):c.1265C>A (p.Thr422Lys) single nucleotide variant Inborn genetic diseases [RCV003383460] Chr22:50247962 [GRCh38]
Chr22:50686391 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3 copy number gain not provided [RCV003485248] Chr22:49839613..50740220 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3 copy number gain not provided [RCV003485250] Chr22:50661573..51166665 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 copy number loss not specified [RCV003986170] Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9287
Count of miRNA genes:1123
Interacting mature miRNAs:1482
Transcripts:ENST00000216271, ENST00000349505, ENST00000415993, ENST00000429374, ENST00000448072, ENST00000454936, ENST00000470378, ENST00000470965, ENST00000471375, ENST00000475965, ENST00000476310, ENST00000477814, ENST00000482213, ENST00000483222, ENST00000488270, ENST00000489424, ENST00000496235, ENST00000496909, ENST00000497483, ENST00000497952, ENST00000498366
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH65991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,691,435 - 50,691,596UniSTSGRCh37
Build 362249,033,562 - 49,033,723RGDNCBI36
Celera2234,566,338 - 34,566,499RGD
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map22q13.31UniSTS
HuRef2233,589,402 - 33,589,563UniSTS
WI-14130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,684,130 - 50,684,255UniSTSGRCh37
Build 362249,026,257 - 49,026,382RGDNCBI36
Celera2234,559,032 - 34,559,157RGD
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
HuRef2233,581,853 - 33,581,978UniSTS
GeneMap99-GB4 RH Map22178.2UniSTS
Whitehead-RH Map22201.7UniSTS


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 133 129 447 22 542 16 107 34 623 30 349 388 7 45 45
Low 2305 2816 1276 599 1398 446 4241 2128 3099 386 1108 1224 167 1 1159 2734 6 2
Below cutoff 1 46 3 3 7 3 9 35 12 3 3 1 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF393962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF407272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF407273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF426160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY450395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI916349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM983038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA424576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216271   ⟹   ENSP00000216271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,183 - 50,251,265 (-)Ensembl
RefSeq Acc Id: ENST00000349505   ⟹   ENSP00000343540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,507 - 50,251,032 (-)Ensembl
RefSeq Acc Id: ENST00000415993   ⟹   ENSP00000397517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,183 - 50,251,261 (-)Ensembl
RefSeq Acc Id: ENST00000429374   ⟹   ENSP00000407640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,405 - 50,251,079 (-)Ensembl
RefSeq Acc Id: ENST00000448072   ⟹   ENSP00000397542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,442 - 50,251,240 (-)Ensembl
RefSeq Acc Id: ENST00000454936   ⟹   ENSP00000406150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,442 - 50,251,032 (-)Ensembl
RefSeq Acc Id: ENST00000470378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,247,908 - 50,249,203 (-)Ensembl
RefSeq Acc Id: ENST00000470965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,249,868 - 50,251,385 (-)Ensembl
RefSeq Acc Id: ENST00000471375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,246,329 - 50,249,040 (-)Ensembl
RefSeq Acc Id: ENST00000475965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,247,138 - 50,248,455 (-)Ensembl
RefSeq Acc Id: ENST00000476310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,247,696 - 50,249,075 (-)Ensembl
RefSeq Acc Id: ENST00000477814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,450 - 50,249,208 (-)Ensembl
RefSeq Acc Id: ENST00000482213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,250,257 - 50,250,972 (-)Ensembl
RefSeq Acc Id: ENST00000483222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,442 - 50,251,242 (-)Ensembl
RefSeq Acc Id: ENST00000488270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,249,287 - 50,250,255 (-)Ensembl
RefSeq Acc Id: ENST00000489424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,249,859 - 50,251,228 (-)Ensembl
RefSeq Acc Id: ENST00000496235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,979 - 50,248,372 (-)Ensembl
RefSeq Acc Id: ENST00000496909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,248,695 - 50,250,890 (-)Ensembl
RefSeq Acc Id: ENST00000497483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,250,119 - 50,251,405 (-)Ensembl
RefSeq Acc Id: ENST00000497952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,791 - 50,247,948 (-)Ensembl
RefSeq Acc Id: ENST00000498366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,442 - 50,251,366 (-)Ensembl
RefSeq Acc Id: ENST00000626012   ⟹   ENSP00000486864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,245,186 - 50,251,405 (-)Ensembl
RefSeq Acc Id: NM_001159286   ⟹   NP_001152758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,245,183 - 50,251,265 (-)NCBI
GRCh372250,683,612 - 50,689,834 (-)NCBI
HuRef2233,581,335 - 33,587,801 (-)ENTREZGENE
CHM1_12250,642,365 - 50,648,588 (-)NCBI
T2T-CHM13v2.02250,752,185 - 50,758,268 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032019   ⟹   NP_114408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,245,183 - 50,251,265 (-)NCBI
GRCh372250,683,612 - 50,689,834 (-)ENTREZGENE
GRCh372250,683,612 - 50,689,834 (-)NCBI
Build 362249,025,739 - 49,031,941 (-)NCBI Archive
HuRef2233,581,335 - 33,587,801 (-)ENTREZGENE
CHM1_12250,642,365 - 50,648,588 (-)NCBI
T2T-CHM13v2.02250,752,185 - 50,758,268 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001152758   ⟸   NM_001159286
- Peptide Label: isoform 2
- UniProtKB: C9J8B8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_114408   ⟸   NM_032019
- Peptide Label: isoform 1
- UniProtKB: Q9UGX1 (UniProtKB/Swiss-Prot),   Q9H028 (UniProtKB/Swiss-Prot),   Q96P78 (UniProtKB/Swiss-Prot),   Q96P77 (UniProtKB/Swiss-Prot),   Q6STF9 (UniProtKB/Swiss-Prot),   Q08AP4 (UniProtKB/Swiss-Prot),   Q9UGX2 (UniProtKB/Swiss-Prot),   Q969S8 (UniProtKB/Swiss-Prot),   C9J8B8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000216271   ⟸   ENST00000216271
RefSeq Acc Id: ENSP00000343540   ⟸   ENST00000349505
RefSeq Acc Id: ENSP00000397517   ⟸   ENST00000415993
RefSeq Acc Id: ENSP00000407640   ⟸   ENST00000429374
RefSeq Acc Id: ENSP00000406150   ⟸   ENST00000454936
RefSeq Acc Id: ENSP00000486864   ⟸   ENST00000626012
RefSeq Acc Id: ENSP00000397542   ⟸   ENST00000448072
Protein Domains
Histone deacetylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969S8-F1-model_v2 AlphaFold Q969S8 1-669 view protein structure

Promoters
RGD ID:6799833
Promoter ID:HG_KWN:43359
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000316934,   OTTHUMT00000316940,   OTTHUMT00000318548,   OTTHUMT00000318549,   OTTHUMT00000318550,   OTTHUMT00000318551,   UC003BKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,028,451 - 49,030,607 (-)MPROMDB
RGD ID:6800016
Promoter ID:HG_KWN:43360
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000316939
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,030,626 - 49,031,272 (-)MPROMDB
RGD ID:6800017
Promoter ID:HG_KWN:43361
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:ENST00000395791,   OTTHUMT00000104141,   OTTHUMT00000316932,   OTTHUMT00000316936,   OTTHUMT00000316937,   OTTHUMT00000316938,   OTTHUMT00000318546,   OTTHUMT00000318547,   UC003BKE.1,   UC003BKF.1,   UC003BKH.1,   UC003BKI.1,   UC003BKJ.1,   UC010HAV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,031,526 - 49,032,957 (-)MPROMDB
RGD ID:13604520
Promoter ID:EPDNEW_H28444
Type:initiation region
Name:HDAC10_5
Description:histone deacetylase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28445  EPDNEW_H28446  EPDNEW_H28447  EPDNEW_H28448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,246,116 - 50,246,176EPDNEW
RGD ID:13604522
Promoter ID:EPDNEW_H28445
Type:initiation region
Name:HDAC10_3
Description:histone deacetylase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28444  EPDNEW_H28446  EPDNEW_H28447  EPDNEW_H28448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,248,229 - 50,248,289EPDNEW
RGD ID:13604524
Promoter ID:EPDNEW_H28446
Type:initiation region
Name:HDAC10_4
Description:histone deacetylase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28444  EPDNEW_H28445  EPDNEW_H28447  EPDNEW_H28448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,249,400 - 50,249,460EPDNEW
RGD ID:13604526
Promoter ID:EPDNEW_H28447
Type:initiation region
Name:HDAC10_1
Description:histone deacetylase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28444  EPDNEW_H28445  EPDNEW_H28446  EPDNEW_H28448  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,251,246 - 50,251,306EPDNEW
RGD ID:13604530
Promoter ID:EPDNEW_H28448
Type:initiation region
Name:HDAC10_2
Description:histone deacetylase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28444  EPDNEW_H28445  EPDNEW_H28446  EPDNEW_H28447  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,251,363 - 50,251,423EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18128 AgrOrtholog
COSMIC HDAC10 COSMIC
Ensembl Genes ENSG00000100429 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216271 ENTREZGENE
  ENST00000216271.10 UniProtKB/Swiss-Prot
  ENST00000349505 ENTREZGENE
  ENST00000349505.4 UniProtKB/Swiss-Prot
  ENST00000415993.5 UniProtKB/TrEMBL
  ENST00000429374.5 UniProtKB/TrEMBL
  ENST00000448072.5 UniProtKB/TrEMBL
  ENST00000454936.5 UniProtKB/Swiss-Prot
  ENST00000626012.2 UniProtKB/TrEMBL
Gene3D-CATH 3.40.800.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100429 GTEx
HGNC ID HGNC:18128 ENTREZGENE
Human Proteome Map HDAC10 Human Proteome Map
InterPro His_deacetylse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83933 UniProtKB/Swiss-Prot
NCBI Gene 83933 ENTREZGENE
OMIM 608544 OMIM
PANTHER HISTONE DEACETYLASE HDAC1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYAMINE DEACETYLASE HDAC10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hist_deacetyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38297 PharmGKB
PRINTS HDASUPER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J8B8 ENTREZGENE, UniProtKB/TrEMBL
  HDA10_HUMAN UniProtKB/Swiss-Prot
  Q08AP4 ENTREZGENE
  Q08AP5_HUMAN UniProtKB/TrEMBL
  Q6STF9 ENTREZGENE
  Q969S8 ENTREZGENE
  Q96P77 ENTREZGENE
  Q96P78 ENTREZGENE
  Q9H028 ENTREZGENE
  Q9UGX1 ENTREZGENE
  Q9UGX2 ENTREZGENE
UniProt Secondary Q08AP4 UniProtKB/Swiss-Prot
  Q6STF9 UniProtKB/Swiss-Prot
  Q96P77 UniProtKB/Swiss-Prot
  Q96P78 UniProtKB/Swiss-Prot
  Q9H028 UniProtKB/Swiss-Prot
  Q9UGX1 UniProtKB/Swiss-Prot
  Q9UGX2 UniProtKB/Swiss-Prot