H3-3A (H3.3 histone A) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: H3-3A (H3.3 histone A) Homo sapiens
Analyze
Symbol: H3-3A
Name: H3.3 histone A
RGD ID: 1317993
HGNC Page HGNC:4764
Description: Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; RNA polymerase II core promoter sequence-specific DNA binding activity; and nucleosomal DNA binding activity. A structural constituent of chromatin. Involved in nucleosome assembly and positive regulation of cell growth. Located in chromosome, telomeric region and nucleoplasm. Part of nucleosome. Implicated in Bryant-Li-Bhoj neurodevelopmental syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRYLIB1; H3 histone family member 3A; H3 histone, family 3A; H3-3B; H3.3A; H3F3; H3F3A; H3F3B; histone H3.3; MGC87782; MGC87783
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: H3P1   H3P10   H3P11   H3P12   H3P13   H3P16   H3P2   H3P23   H3P24   H3P27   H3P28   H3P29   H3P3   H3P31   H3P32   H3P33   H3P34   H3P35   H3P37   H3P38   H3P39   H3P40   H3P42   H3P44   H3P47   H3P5   H3P6   H3P8   H3P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381226,061,831 - 226,072,019 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1226,061,851 - 226,072,019 (+)Ensemblhg38GRCh38
GRCh371226,249,532 - 226,259,720 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,317,044 - 224,326,326 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341222,557,155 - 222,566,437NCBI
Celera1199,441,492 - 199,450,772 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,767,611 - 196,776,906 (+)NCBIHuRef
CHM1_11227,523,171 - 227,532,463 (+)NCBICHM1_1
T2T-CHM13v2.01225,249,743 - 225,259,926 (+)NCBIT2T-CHM13v2.0
JBrowse:




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
Adrenocortical carcinoma  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Astrocytoma  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Brain imaging abnormality  (IAGP)
Brain neoplasm  (IAGP)
Brainstem glioma  (IAGP)
Broad philtrum  (IAGP)
Broad thumb  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chiari type I malformation  (IAGP)
Chronic constipation  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Dilation of Virchow-Robin spaces  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Exaggerated cupid's bow  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Laryngomalacia  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set nipples  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Parathyroid carcinoma  (IAGP)
Plagiocephaly  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Tented upper lip vermilion  (IAGP)
Thin corpus callosum  (IAGP)
Toe syndactyly  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Every amino acid matters: essential contributions of histone variants to mammalian development and disease. Maze I, etal., Nat Rev Genet. 2014 Apr;15(4):259-71. doi: 10.1038/nrg3673. Epub 2014 Mar 11.
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:2859593   PMID:3031613   PMID:7309716   PMID:7821789   PMID:8586426   PMID:8889548   PMID:9334241   PMID:9441765   PMID:9566873   PMID:10464286   PMID:10911986   PMID:11080476  
PMID:11242053   PMID:11278789   PMID:11562345   PMID:11591653   PMID:11689053   PMID:11751582   PMID:11850414   PMID:11856369   PMID:12477932   PMID:12529330   PMID:12560483   PMID:12773393  
PMID:12871727   PMID:12909349   PMID:14657027   PMID:14718166   PMID:15009096   PMID:15345777   PMID:15471871   PMID:15489334   PMID:15498874   PMID:15525939   PMID:15616580   PMID:15664198  
PMID:15669143   PMID:15674325   PMID:15681610   PMID:15684425   PMID:15776021   PMID:15834423   PMID:15851689   PMID:16185088   PMID:16258499   PMID:16267050   PMID:16341674   PMID:16457588  
PMID:16497732   PMID:16710414   PMID:16728978   PMID:16916647   PMID:17052464   PMID:17166833   PMID:17172641   PMID:17189264   PMID:17194708   PMID:17403666   PMID:17675446   PMID:18070919  
PMID:18187620   PMID:18760861   PMID:18927235   PMID:18971269   PMID:19135898   PMID:19494831   PMID:19633291   PMID:19633671   PMID:19834512   PMID:20110566   PMID:20153629   PMID:20211137  
PMID:20348541   PMID:20448663   PMID:20458337   PMID:20504901   PMID:20525793   PMID:20651253   PMID:20876399   PMID:20953165   PMID:21047901   PMID:21081503   PMID:21163940   PMID:21274551  
PMID:21630459   PMID:21636898   PMID:21724829   PMID:21873635   PMID:21880731   PMID:21931800   PMID:21969370   PMID:22195966   PMID:22286061   PMID:22539306   PMID:22623428   PMID:22661320  
PMID:22684280   PMID:22863883   PMID:23075851   PMID:23079654   PMID:23116151   PMID:23142979   PMID:23160995   PMID:23222847   PMID:23319141   PMID:23354654   PMID:23414300   PMID:23429371  
PMID:23539183   PMID:23603901   PMID:23660862   PMID:23689370   PMID:23758177   PMID:23828041   PMID:24162739   PMID:24183680   PMID:24200965   PMID:24209620   PMID:24229707   PMID:24242757  
PMID:24285547   PMID:24337577   PMID:24457600   PMID:24530302   PMID:24590075   PMID:24722339   PMID:24981860   PMID:25192599   PMID:25200322   PMID:25263594   PMID:25275136   PMID:25324306  
PMID:25383530   PMID:25389051   PMID:25408271   PMID:25416956   PMID:25417107   PMID:25442495   PMID:25479829   PMID:25538301   PMID:25615412   PMID:25963833   PMID:26159857   PMID:26167883  
PMID:26231952   PMID:26237645   PMID:26399631   PMID:26439302   PMID:26457357   PMID:26496610   PMID:26727948   PMID:27142060   PMID:27173435   PMID:27217568   PMID:27219822   PMID:27402533  
PMID:27626385   PMID:27694942   PMID:27705803   PMID:28059095   PMID:28107649   PMID:28137420   PMID:28190768   PMID:28300060   PMID:28330616   PMID:28505000   PMID:28545165   PMID:28620180  
PMID:28717009   PMID:28882701   PMID:28899740   PMID:28927264   PMID:29044188   PMID:29063957   PMID:29089422   PMID:29128334   PMID:29511261   PMID:29568061   PMID:29609578   PMID:29718432  
PMID:29721183   PMID:29937341   PMID:30463901   PMID:30884312   PMID:30948266   PMID:31015476   PMID:31180492   PMID:31285528   PMID:31582723   PMID:31753913   PMID:31839598   PMID:31980649  
PMID:32140074   PMID:32296183   PMID:32317528   PMID:32395866   PMID:32416067   PMID:32433577   PMID:32521226   PMID:32545337   PMID:32766947   PMID:32807901   PMID:32814769   PMID:32929329  
PMID:33007428   PMID:33021329   PMID:33022573   PMID:33130928   PMID:33170271   PMID:33268356   PMID:33336742   PMID:33620145   PMID:33644029   PMID:33677889   PMID:33729478   PMID:33857403  
PMID:33961781   PMID:34079125   PMID:34185411   PMID:34189442   PMID:34347625   PMID:34349018   PMID:34373451   PMID:34537242   PMID:34662580   PMID:34780483   PMID:34782425   PMID:34786730  
PMID:34876591   PMID:35013218   PMID:35055156   PMID:35063084   PMID:35235311   PMID:35562734   PMID:35563538   PMID:35575683   PMID:35637482   PMID:35772801   PMID:35831314   PMID:35914814  
PMID:36089195   PMID:36180527   PMID:36180920   PMID:36215168   PMID:36217030   PMID:36373674   PMID:36573560   PMID:36617452   PMID:36652389   PMID:37317656   PMID:37782742   PMID:38066546  
PMID:38113892   PMID:38334954  


Genomics

Comparative Map Data
H3-3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381226,061,831 - 226,072,019 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1226,061,851 - 226,072,019 (+)Ensemblhg38GRCh38
GRCh371226,249,532 - 226,259,720 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,317,044 - 224,326,326 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341222,557,155 - 222,566,437NCBI
Celera1199,441,492 - 199,450,772 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,767,611 - 196,776,906 (+)NCBIHuRef
CHM1_11227,523,171 - 227,532,463 (+)NCBICHM1_1
T2T-CHM13v2.01225,249,743 - 225,259,926 (+)NCBIT2T-CHM13v2.0
H3f3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,630,125 - 180,641,127 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,628,397 - 180,641,508 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381180,802,560 - 180,813,605 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,800,832 - 180,813,943 (-)Ensemblmm10GRCm38
MGSCv371182,732,699 - 182,743,734 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361182,639,243 - 182,650,278 (-)NCBIMGSCv36mm8
Celera1187,865,754 - 187,875,189 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.46NCBI
H3f3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81395,065,085 - 95,076,695 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1395,065,085 - 95,076,695 (-)EnsemblGRCr8
mRatBN7.21392,533,289 - 92,544,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1392,533,298 - 92,544,908 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1395,038,631 - 95,050,244 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01396,438,557 - 96,450,171 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01393,613,252 - 93,624,861 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01399,091,246 - 99,102,828 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1399,091,763 - 99,101,208 (-)Ensemblrn6Rnor6.0
Rnor_5.013104,089,831 - 104,101,413 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41396,539,599 - 96,551,198 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1392,078,421 - 92,090,028 (-)NCBICelera
Cytogenetic Map13q26NCBI
H3f3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955489269,900 - 278,398 (+)Ensembl
ChiLan1.0NW_004955489269,900 - 278,398 (+)NCBIChiLan1.0ChiLan1.0
LOC100970414
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2123,465,745 - 23,475,101 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1123,414,316 - 23,423,689 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01201,523,670 - 201,533,005 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11206,520,107 - 206,529,447 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1206,520,109 - 206,529,447 (+)EnsemblpanPan2panpan1.1
H3-3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,797,168 - 38,805,417 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,797,448 - 38,805,416 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha738,277,490 - 38,285,800 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0738,630,568 - 38,638,918 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl738,630,568 - 38,638,856 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1738,469,231 - 38,477,538 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0738,475,684 - 38,485,703 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,747,035 - 38,755,357 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
LOC101963041
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934451,904,969 - 51,912,269 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365262,835,002 - 2,842,328 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
H3-3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1013,923,077 - 13,948,484 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11013,939,938 - 13,947,976 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21015,839,603 - 15,846,067 (-)NCBISscrofa10.2Sscrofa10.2susScr3
H3-3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,696,153 - 3,704,886 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1645,902,980 - 45,904,929 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660553,710,525 - 3,719,740 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101699418
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624807194,372 - 203,205 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in H3-3A
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_002107.7(H3-3A):c.20C>G (p.Thr7Ser) single nucleotide variant not provided [RCV001767243] Chr1:226064371 [GRCh38]
Chr1:226252072 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823740]|H3F3A-related disorder [RCV004555590]|Inborn genetic diseases [RCV000624606]|not provided [RCV000994267] Chr1:226071445 [GRCh38]
Chr1:226259146 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.239A>C (p.Lys80Thr) single nucleotide variant not provided [RCV000523604] Chr1:226065766 [GRCh38]
Chr1:226253467 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) single nucleotide variant Astrocytoma [RCV000435644]|Brainstem glioma [RCV000425383] Chr1:226064434 [GRCh38]
Chr1:226252135 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) single nucleotide variant Adrenal cortex carcinoma [RCV000426050]|Brainstem glioma [RCV000418626]|Glioblastoma [RCV000436272]|Neoplasm of brain [RCV000444419] Chr1:226064451 [GRCh38]
Chr1:226252152 [GRCh37]
Chr1:1q42.12		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002107.7(H3-3A):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV000493869] Chr1:226064439 [GRCh38]
Chr1:226252140 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg) single nucleotide variant Glioblastoma [RCV000505649] Chr1:226064454 [GRCh38]
Chr1:226252155 [GRCh37]
Chr1:1q42.12		 other
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.12(chr1:226255954-226521979)x3 copy number gain not provided [RCV000736883] Chr1:226255954..226521979 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823747]|Global developmental delay [RCV001541913]|not provided [RCV000851307]|not specified [RCV004017756] Chr1:226071433 [GRCh38]
Chr1:226259134 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002107.7(H3-3A):c.131C>T (p.Pro44Leu) single nucleotide variant not provided [RCV001172231] Chr1:226065658 [GRCh38]
Chr1:226253359 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823778]|Global developmental delay [RCV001541909] Chr1:226064472 [GRCh38]
Chr1:226252173 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys) single nucleotide variant Global developmental delay [RCV001541910] Chr1:226065693 [GRCh38]
Chr1:226253394 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823779]|Global developmental delay [RCV001541911] Chr1:226065798 [GRCh38]
Chr1:226253499 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.386G>A (p.Arg129His) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823780]|Global developmental delay [RCV001541914] Chr1:226071454 [GRCh38]
Chr1:226259155 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.233A>G (p.Asp78Gly) single nucleotide variant not provided [RCV001767319] Chr1:226065760 [GRCh38]
Chr1:226253461 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3 copy number gain not provided [RCV001005183] Chr1:226064744..226924455 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_002107.7(H3-3A):c.185T>G (p.Leu62Arg) single nucleotide variant not provided [RCV001199199] Chr1:226065712 [GRCh38]
Chr1:226253413 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_002107.7(H3-3A):c.326A>G (p.Asn109Ser) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV002226429]|not specified [RCV004035422] Chr1:226071394 [GRCh38]
Chr1:226259095 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.337A>G (p.Ile113Val) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV005401817]|Inborn genetic diseases [RCV001266259] Chr1:226071405 [GRCh38]
Chr1:226259106 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.107T>C (p.Val36Ala) single nucleotide variant Inborn genetic diseases [RCV001266726] Chr1:226064458 [GRCh38]
Chr1:226252159 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV003493835]|Neurodevelopmental disorder [RCV001262997] Chr1:226065777 [GRCh38]
Chr1:226253478 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.245A>G (p.Asp82Gly) single nucleotide variant Inborn genetic diseases [RCV001265909] Chr1:226065772 [GRCh38]
Chr1:226253473 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.244G>C (p.Asp82His) single nucleotide variant H3-3A-related disorder [RCV003393935]|Inborn genetic diseases [RCV001266164] Chr1:226065771 [GRCh38]
Chr1:226253472 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.137C>T (p.Thr46Ile) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823766]|Inborn genetic diseases [RCV001266185] Chr1:226065664 [GRCh38]
Chr1:226253365 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg) single nucleotide variant H3F3A-related disorder [RCV003336364]|Inborn genetic diseases [RCV001267334] Chr1:226071433 [GRCh38]
Chr1:226259134 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_002107.7(H3-3A):c.363G>A (p.Met121Ile) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV003314008]|Global developmental delay [RCV001541912]|not provided [RCV004728764] Chr1:226071431 [GRCh38]
Chr1:226259132 [GRCh37]
Chr1:1q42.12		 pathogenic|likely pathogenic
NM_002107.7(H3-3A):c.92C>T (p.Pro31Leu) single nucleotide variant not provided [RCV001770752] Chr1:226064443 [GRCh38]
Chr1:226252144 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_002107.7(H3-3A):c.335C>T (p.Ala112Val) single nucleotide variant not provided [RCV001767367] Chr1:226071403 [GRCh38]
Chr1:226259104 [GRCh37]
Chr1:1q42.12		 pathogenic|uncertain significance
NM_002107.7(H3-3A):c.143C>T (p.Ala48Val) single nucleotide variant not provided [RCV001815694]|not specified [RCV004040943] Chr1:226065670 [GRCh38]
Chr1:226253371 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)dup duplication not provided [RCV001928108] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV001823808]|not provided [RCV003107859] Chr1:226064403 [GRCh38]
Chr1:226252104 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_002107.7(H3-3A):c.137C>A (p.Thr46Asn) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV003152823] Chr1:226065664 [GRCh38]
Chr1:226253365 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_002107.7(H3-3A):c.248T>G (p.Leu83Arg) single nucleotide variant not provided [RCV002462415] Chr1:226065775 [GRCh38]
Chr1:226253476 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_002107.7(H3-3A):c.380del (p.Leu127fs) deletion not provided [RCV003059920] Chr1:226071448 [GRCh38]
Chr1:226259149 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_002107.7(H3-3A):c.149G>A (p.Arg50His) single nucleotide variant not provided [RCV003026844] Chr1:226065676 [GRCh38]
Chr1:226253377 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.255C>A (p.Phe85Leu) single nucleotide variant not provided [RCV004777423] Chr1:226065782 [GRCh38]
Chr1:226253483 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.308G>A (p.Gly103Asp) single nucleotide variant not provided [RCV003325030] Chr1:226071376 [GRCh38]
Chr1:226259077 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.128+6A>T single nucleotide variant not specified [RCV004359416] Chr1:226064485 [GRCh38]
Chr1:226252186 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.87T>G (p.Ser29Arg) single nucleotide variant not provided [RCV003441349] Chr1:226064438 [GRCh38]
Chr1:226252139 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_002107.7(H3-3A):c.134G>A (p.Gly45Asp) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV003985069] Chr1:226065661 [GRCh38]
Chr1:226253362 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.283-3C>T single nucleotide variant H3-3A-related disorder [RCV003967086] Chr1:226071348 [GRCh38]
Chr1:226259049 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002107.7(H3-3A):c.78T>C (p.Ala26=) single nucleotide variant H3-3A-related disorder [RCV003927193] Chr1:226064429 [GRCh38]
Chr1:226252130 [GRCh37]
Chr1:1q42.12		 likely benign
NM_002107.7(H3-3A):c.25C>G (p.Arg9Gly) single nucleotide variant not provided [RCV005242549]|not specified [RCV004396690] Chr1:226064376 [GRCh38]
Chr1:226252077 [GRCh37]
Chr1:1q42.12		 likely pathogenic
NC_000001.10:g.(?_225591005)_(227174438_?)del deletion not provided [RCV004579153] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 pathogenic
NM_002107.7(H3-3A):c.282+1G>A single nucleotide variant not provided [RCV004779715] Chr1:226065810 [GRCh38]
Chr1:226253511 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.388C>T (p.Arg130Cys) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV004792335] Chr1:226071456 [GRCh38]
Chr1:226259157 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.385C>T (p.Arg129Cys) single nucleotide variant not provided [RCV004724234] Chr1:226071453 [GRCh38]
Chr1:226259154 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.362T>C (p.Met121Thr) single nucleotide variant Bryant-Li-Bhoj neurodevelopmental syndrome 1 [RCV004788222] Chr1:226071430 [GRCh38]
Chr1:226259131 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_002107.7(H3-3A):c.68C>T (p.Thr23Ile) single nucleotide variant H3-3A-related disorder [RCV004731688]|not provided [RCV004724233] Chr1:226064419 [GRCh38]
Chr1:226252120 [GRCh37]
Chr1:1q42.12		 pathogenic|uncertain significance
NM_002107.7(H3-3A):c.322A>G (p.Thr108Ala) single nucleotide variant not provided [RCV005001754] Chr1:226071390 [GRCh38]
Chr1:226259091 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_002107.7(H3-3A):c.326A>T (p.Asn109Ile) single nucleotide variant not provided [RCV005003950] Chr1:226071394 [GRCh38]
Chr1:226259095 [GRCh37]
Chr1:1q42.12		 pathogenic
NM_002107.7(H3-3A):c.403C>T (p.Arg135Cys) single nucleotide variant not specified [RCV005346440] Chr1:226071471 [GRCh38]
Chr1:226259172 [GRCh37]
Chr1:1q42.12		 uncertain significance

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597507995GWAS1604069_Hinsomnia QTL GWAS1604069 (human)3e-08sleep behavior trait (VT:0001501)1226066787226066788Human

Markers in Region
WI-6046  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q31.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2215 2786 2196 4488 1420 1702 388 1183 226 1968 5778 5600 3544 511 1395 1231 162

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_065173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK293541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC081561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM760856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366813   ⟹   ENSP00000355778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,063,977 - 226,072,001 (+)Ensembl
Ensembl Acc Id: ENST00000366814   ⟹   ENSP00000355779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,714 - 226,067,269 (+)Ensembl
Ensembl Acc Id: ENST00000366815   ⟹   ENSP00000355780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,716 - 226,072,019 (+)Ensembl
Ensembl Acc Id: ENST00000366816   ⟹   ENSP00000355781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,061,851 - 226,071,523 (+)Ensembl
Ensembl Acc Id: ENST00000653960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,726 - 226,064,824 (+)Ensembl
Ensembl Acc Id: ENST00000655399   ⟹   ENSP00000499800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,750 - 226,071,997 (+)Ensembl
Ensembl Acc Id: ENST00000656829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,783 - 226,071,846 (+)Ensembl
Ensembl Acc Id: ENST00000661429   ⟹   ENSP00000499385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,063,494 - 226,071,752 (+)Ensembl
Ensembl Acc Id: ENST00000666609   ⟹   ENSP00000499275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,063,466 - 226,071,521 (+)Ensembl
Ensembl Acc Id: ENST00000667897   ⟹   ENSP00000499446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1226,062,758 - 226,071,542 (+)Ensembl
RefSeq Acc Id: NM_001379043   ⟹   NP_001365972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,061,831 - 226,072,019 (+)NCBI
T2T-CHM13v2.01225,249,743 - 225,259,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379045   ⟹   NP_001365974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,062,270 - 226,072,019 (+)NCBI
T2T-CHM13v2.01225,250,182 - 225,259,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379046   ⟹   NP_001365975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,062,270 - 226,072,019 (+)NCBI
T2T-CHM13v2.01225,250,182 - 225,259,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379047   ⟹   NP_001365976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,062,447 - 226,072,019 (+)NCBI
T2T-CHM13v2.01225,250,359 - 225,259,926 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002107   ⟹   NP_002098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,062,716 - 226,072,019 (+)NCBI
GRCh371226,250,408 - 226,259,703 (+)ENTREZGENE
Build 361224,317,044 - 224,326,326 (+)NCBI Archive
HuRef1196,767,611 - 196,776,906 (+)ENTREZGENE
CHM1_11227,523,171 - 227,532,463 (+)NCBI
T2T-CHM13v2.01225,250,628 - 225,259,926 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002098   ⟸   NM_002107
- UniProtKB: Q66I33 (UniProtKB/Swiss-Prot),   Q5VV56 (UniProtKB/Swiss-Prot),   Q5VV55 (UniProtKB/Swiss-Prot),   P33155 (UniProtKB/Swiss-Prot),   P06351 (UniProtKB/Swiss-Prot),   Q9V3W4 (UniProtKB/Swiss-Prot),   P84243 (UniProtKB/Swiss-Prot),   B2R4P9 (UniProtKB/TrEMBL),   A0A024R3S0 (UniProtKB/TrEMBL),   A8K4Y7 (UniProtKB/TrEMBL),   B2R6Y1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365972   ⟸   NM_001379043
- UniProtKB: Q66I33 (UniProtKB/Swiss-Prot),   Q5VV56 (UniProtKB/Swiss-Prot),   Q5VV55 (UniProtKB/Swiss-Prot),   P84243 (UniProtKB/Swiss-Prot),   P33155 (UniProtKB/Swiss-Prot),   P06351 (UniProtKB/Swiss-Prot),   Q9V3W4 (UniProtKB/Swiss-Prot),   A0A024R3S0 (UniProtKB/TrEMBL),   B2R4P9 (UniProtKB/TrEMBL),   A8K4Y7 (UniProtKB/TrEMBL),   B2R6Y1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365975   ⟸   NM_001379046
- UniProtKB: Q66I33 (UniProtKB/Swiss-Prot),   Q5VV56 (UniProtKB/Swiss-Prot),   Q5VV55 (UniProtKB/Swiss-Prot),   P84243 (UniProtKB/Swiss-Prot),   P33155 (UniProtKB/Swiss-Prot),   P06351 (UniProtKB/Swiss-Prot),   Q9V3W4 (UniProtKB/Swiss-Prot),   A0A024R3S0 (UniProtKB/TrEMBL),   B2R4P9 (UniProtKB/TrEMBL),   A8K4Y7 (UniProtKB/TrEMBL),   B2R6Y1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365974   ⟸   NM_001379045
- UniProtKB: Q66I33 (UniProtKB/Swiss-Prot),   Q5VV56 (UniProtKB/Swiss-Prot),   Q5VV55 (UniProtKB/Swiss-Prot),   P84243 (UniProtKB/Swiss-Prot),   P33155 (UniProtKB/Swiss-Prot),   P06351 (UniProtKB/Swiss-Prot),   Q9V3W4 (UniProtKB/Swiss-Prot),   A0A024R3S0 (UniProtKB/TrEMBL),   B2R4P9 (UniProtKB/TrEMBL),   A8K4Y7 (UniProtKB/TrEMBL),   B2R6Y1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365976   ⟸   NM_001379047
- UniProtKB: Q66I33 (UniProtKB/Swiss-Prot),   Q5VV56 (UniProtKB/Swiss-Prot),   Q5VV55 (UniProtKB/Swiss-Prot),   P84243 (UniProtKB/Swiss-Prot),   P33155 (UniProtKB/Swiss-Prot),   P06351 (UniProtKB/Swiss-Prot),   Q9V3W4 (UniProtKB/Swiss-Prot),   A0A024R3S0 (UniProtKB/TrEMBL),   B2R4P9 (UniProtKB/TrEMBL),   A8K4Y7 (UniProtKB/TrEMBL),   B2R6Y1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000499385   ⟸   ENST00000661429
Ensembl Acc Id: ENSP00000499275   ⟸   ENST00000666609
Ensembl Acc Id: ENSP00000499446   ⟸   ENST00000667897
Ensembl Acc Id: ENSP00000499800   ⟸   ENST00000655399
Ensembl Acc Id: ENSP00000355781   ⟸   ENST00000366816
Ensembl Acc Id: ENSP00000355778   ⟸   ENST00000366813
Ensembl Acc Id: ENSP00000355780   ⟸   ENST00000366815
Ensembl Acc Id: ENSP00000355779   ⟸   ENST00000366814
Protein Domains
Histone H2A/H2B/H3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P84243-F1-model_v2 AlphaFold P84243 1-136 view protein structure

Promoters
RGD ID:6785332
Promoter ID:HG_KWN:7595
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000366816
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,315,641 - 224,316,387 (+)MPROMDB
RGD ID:6785331
Promoter ID:HG_KWN:7596
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:ENST00000366814,   OTTHUMT00000091323
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,316,441 - 224,317,152 (+)MPROMDB
RGD ID:6849396
Promoter ID:EP15024
Type:single initiation site
Name:HS_H3F3A
Description:Histone H3.3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA
Regulation:replication (repressed by or weakly expressed in) independent
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,317,046 - 224,317,106EPD
RGD ID:6785329
Promoter ID:HG_KWN:7597
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366813
Position:
Human AssemblyChrPosition (strand)Source
Build 361224,317,691 - 224,318,792 (+)MPROMDB
RGD ID:6859134
Promoter ID:EPDNEW_H2731
Type:initiation region
Name:H3F3A_1
Description:H3 histone family member 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2732  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,062,721 - 226,062,781EPDNEW
RGD ID:6859136
Promoter ID:EPDNEW_H2732
Type:initiation region
Name:H3F3A_2
Description:H3 histone family member 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2731  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,063,922 - 226,063,982EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4764 AgrOrtholog
COSMIC H3-3A COSMIC
Ensembl Genes ENSG00000132475 UniProtKB/Swiss-Prot
  ENSG00000163041 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254810.8 UniProtKB/Swiss-Prot
  ENST00000366813.1 UniProtKB/Swiss-Prot
  ENST00000366815 ENTREZGENE
  ENST00000366815.10 UniProtKB/Swiss-Prot
  ENST00000366816 ENTREZGENE
  ENST00000366816.5 UniProtKB/Swiss-Prot
  ENST00000586607.5 UniProtKB/Swiss-Prot
  ENST00000587560.5 UniProtKB/Swiss-Prot
  ENST00000589599.5 UniProtKB/Swiss-Prot
  ENST00000655399.1 UniProtKB/Swiss-Prot
  ENST00000661429.1 UniProtKB/Swiss-Prot
  ENST00000666609.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot
GTEx ENSG00000132475 GTEx
  ENSG00000163041 GTEx
HGNC ID HGNC:4764 ENTREZGENE
Human Proteome Map H3-3A Human Proteome Map
InterPro Histone-fold UniProtKB/Swiss-Prot
  Histone_H2A/H2B/H3 UniProtKB/Swiss-Prot
  Histone_H3/CENP-A UniProtKB/Swiss-Prot
KEGG Report hsa:3020 UniProtKB/Swiss-Prot
  hsa:3021 UniProtKB/Swiss-Prot
NCBI Gene 3020 ENTREZGENE
OMIM 601128 OMIM
PANTHER PTHR11426 UniProtKB/Swiss-Prot
Pfam Histone UniProtKB/Swiss-Prot
PharmGKB PA166351884 PharmGKB
PRINTS HISTONEH3 UniProtKB/Swiss-Prot
PROSITE HISTONE_H3_1 UniProtKB/Swiss-Prot
  HISTONE_H3_2 UniProtKB/Swiss-Prot
SMART SM00428 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot
UniProt A0A024R3S0 ENTREZGENE
  A0A590UJJ6_HUMAN UniProtKB/TrEMBL
  A8K4Y7 ENTREZGENE, UniProtKB/TrEMBL
  B2R4P9 ENTREZGENE, UniProtKB/TrEMBL
  B2R6Y1 ENTREZGENE, UniProtKB/TrEMBL
  B4DEB1_HUMAN UniProtKB/TrEMBL
  H33_HUMAN UniProtKB/Swiss-Prot
  P06351 ENTREZGENE
  P33155 ENTREZGENE
  P84243 ENTREZGENE
  Q5VV55 ENTREZGENE
  Q5VV56 ENTREZGENE
  Q66I33 ENTREZGENE
  Q9V3W4 ENTREZGENE
UniProt Secondary P06351 UniProtKB/Swiss-Prot
  P33155 UniProtKB/Swiss-Prot
  Q5VV55 UniProtKB/Swiss-Prot
  Q5VV56 UniProtKB/Swiss-Prot
  Q66I33 UniProtKB/Swiss-Prot
  Q9V3W4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H3-3A  H3.3 histone A  H3F3A  H3 histone family member 3A  Symbol and/or name change 5135510 APPROVED
2016-08-16 H3F3A  H3 histone family member 3A  H3F3A  H3 histone, family 3A  Symbol and/or name change 5135510 APPROVED