H4C9 (H4 clustered histone 9) - Rat Genome Database

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Advanced Search (OLGA)
Gene: H4C9 (H4 clustered histone 9) Homo sapiens
Analyze
Symbol: H4C9
Name: H4 clustered histone 9
RGD ID: 1342673
HGNC Page HGNC:4793
Description: A structural constituent of chromatin. Involved in negative regulation of megakaryocyte differentiation and nucleosome assembly. Located in extracellular exosome and nucleoplasm. Part of nucleosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H4 histone family, member M; H4-16; H4/m; H4C1; H4C11; H4C12; H4C13; H4C14; H4C15; H4C16; H4C2; H4C3; H4C4; H4C5; H4C6; H4C8; H4FM; H4M; HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4; histone 1, H4i; Histone 4 family, member M; histone cluster 1 H4 family member i; histone cluster 1, H4i; histone family member; histone H4; TEBIVANED4; TEVANED4
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38627,139,282 - 27,139,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl627,139,282 - 27,140,640 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh37627,107,061 - 27,107,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36627,215,067 - 27,215,436 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34627,215,066 - 27,215,436NCBI
Celera628,713,087 - 28,713,456 (+)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef626,915,149 - 26,915,518 (+)NCBIHuRef
CHM1_1627,109,410 - 27,109,779 (+)NCBICHM1_1
T2T-CHM13v2.0627,008,097 - 27,008,493 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4'-trichlorobiphenyl  (ISO)
2,4-diaminotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
aldehydo-D-glucose  (ISO)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
berberine  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
dioxygen  (EXP)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
imidacloprid  (ISO)
indinavir  (ISO)
indometacin  (EXP)
iron dichloride  (EXP)
L-methionine  (ISO)
lamivudine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP,ISO)
methidathion  (ISO)
methoxyacetic acid  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-Nitrosopyrrolidine  (EXP)
okadaic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
propanal  (EXP)
propiconazole  (ISO)
saquinavir  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1916825   PMID:2474456   PMID:3035717   PMID:3340182   PMID:6314274   PMID:7626218   PMID:8988030   PMID:9031620   PMID:9119399   PMID:9439656   PMID:9540062   PMID:9566873  
PMID:10064132   PMID:10220385   PMID:10384058   PMID:11080476   PMID:11689053   PMID:12408966   PMID:12477932   PMID:12499368   PMID:14574404   PMID:14585971   PMID:14657027   PMID:14718166  
PMID:15161933   PMID:15489334   PMID:15504738   PMID:15670829   PMID:15782174   PMID:15933069   PMID:15951514   PMID:16415788   PMID:16678110   PMID:16807684   PMID:16916647   PMID:16917504  
PMID:17081983   PMID:17207965   PMID:17540172   PMID:17675446   PMID:17925393   PMID:18070919   PMID:18404153   PMID:18408754   PMID:18474616   PMID:18571423   PMID:19135898   PMID:19199708  
PMID:19410544   PMID:19494831   PMID:19498464   PMID:19710015   PMID:19738201   PMID:19862764   PMID:19946888   PMID:20000738   PMID:20224553   PMID:20458337   PMID:20498094   PMID:20618440  
PMID:20709061   PMID:20739937   PMID:20951943   PMID:21081503   PMID:21085121   PMID:21145461   PMID:21164480   PMID:21478274   PMID:21596426   PMID:21630459   PMID:21636898   PMID:21743476  
PMID:21800051   PMID:21812398   PMID:21832049   PMID:21873635   PMID:21888893   PMID:21907836   PMID:21983900   PMID:22145905   PMID:22268729   PMID:22343720   PMID:22368283   PMID:22373579  
PMID:22493515   PMID:22615379   PMID:22623428   PMID:22658674   PMID:22681889   PMID:23071334   PMID:23075851   PMID:23142979   PMID:23376485   PMID:23377543   PMID:23533145   PMID:23760478  
PMID:23831576   PMID:23979707   PMID:24183680   PMID:24311584   PMID:24360279   PMID:24361270   PMID:24525235   PMID:24596249   PMID:24699735   PMID:24711643   PMID:24726341   PMID:24981860  
PMID:25281266   PMID:25416956   PMID:25556234   PMID:25579814   PMID:25615412   PMID:25619998   PMID:25651062   PMID:25910212   PMID:25963833   PMID:26167883   PMID:26496610   PMID:26694698  
PMID:26725010   PMID:26912361   PMID:26979993   PMID:27153538   PMID:27320910   PMID:28302793   PMID:28514442   PMID:28524877   PMID:28902428   PMID:28977666   PMID:29676528   PMID:29844126  
PMID:30021884   PMID:30554943   PMID:31142837   PMID:31759698   PMID:31790919   PMID:31839598   PMID:32296183   PMID:32350470   PMID:32572027   PMID:32814053   PMID:33361760   PMID:33618749  
PMID:33857403   PMID:33957083   PMID:33961781   PMID:34784299   PMID:35271311   PMID:35563538   PMID:35864588   PMID:36044842   PMID:36180920   PMID:36435862   PMID:37132043   PMID:37384673  
PMID:37491377   PMID:37616343   PMID:37705046   PMID:38113892   PMID:38334954   PMID:40593561   PMID:40593736   PMID:41387687   PMID:41611887  


Genomics

Comparative Map Data
H4C9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38627,139,282 - 27,139,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl627,139,282 - 27,140,640 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh37627,107,061 - 27,107,457 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36627,215,067 - 27,215,436 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34627,215,066 - 27,215,436NCBI
Celera628,713,087 - 28,713,456 (+)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef626,915,149 - 26,915,518 (+)NCBIHuRef
CHM1_1627,109,410 - 27,109,779 (+)NCBICHM1_1
T2T-CHM13v2.0627,008,097 - 27,008,493 (+)NCBIT2T-CHM13v2.0
H4c8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391323,715,214 - 23,715,648 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1323,715,220 - 23,715,689 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381323,531,044 - 23,531,478 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1323,531,050 - 23,531,519 (+)EnsemblGRCm38.p6 Ensemblmm10GRCm38
MGSCv371323,622,919 - 23,623,388 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361323,538,515 - 23,538,984 (+)NCBIMGSCv36mm8
Celera1323,762,985 - 23,763,454 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
cM Map139.77NCBI
H4c8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81747,176,246 - 47,180,690 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1741,953,594 - 41,958,964 (-)EnsemblGRCr8
GRCr8 Ensembl1747,393,603 - 47,453,972 (+)EnsemblGRCr8
GRCr8 Ensembl1747,400,471 - 47,470,855 (-)EnsemblGRCr8
GRCr8 Ensembl4171,403,627 - 171,403,938 (-)EnsemblGRCr8
GRCr8 Ensembl1741,797,152 - 41,806,539 (+)EnsemblGRCr8
mRatBN7.21742,480,467 - 42,484,912 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1742,480,313 - 42,485,370 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1744,530,209 - 44,534,658 (+)NCBIUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01749,289,303 - 49,293,753 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01743,780,258 - 43,784,712 (+)NCBIUTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd1748,035,018 - 48,039,471 (+)NCBI
Lyon_Normotensive1747,873,659 - 47,878,112 (+)NCBI
Lyon_Hypertensive1744,687,907 - 44,692,360 (+)NCBI
F344_StmMcwi1746,144,602 - 46,149,055 (+)NCBI
Rnor_6.01744,522,144 - 44,526,587 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1744,522,140 - 44,526,583 (+)EnsemblRnor_6.0 Ensemblrn6Rnor6.0
Rnor_5.01758,943,971 - 58,948,414 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41750,113,499 - 50,117,942 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1753,976,729 - 53,981,173 (-)NCBICelera
RGSC_v3.11750,116,339 - 50,120,783 (+)NCBI
Cytogenetic Map17p11NCBI
LOC100981824
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2541,784,458 - 41,790,190 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1637,785,914 - 37,791,120 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0626,971,978 - 26,975,626 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1627,633,627 - 27,637,235 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl627,634,245 - 27,634,556 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
LOC101967236
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946816,126 - 817,757 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366712,803,784 - 2,804,173 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
H4C9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1721,224,973 - 21,225,379 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
H4C9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap11726,891,249 - 26,891,662 (+)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_02366604426,834,357 - 26,834,758 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.11745,370,125 - 45,370,754 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,670,283 - 14,670,591 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM

Variants

.
Variants in H4C9
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 copy number gain See cases [RCV000133692] Chr6:6p22.2-22.1 uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:6p25.2-21.33 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:6p25.3-12.3 pathogenic
GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3 copy number gain Breast ductal adenocarcinoma [RCV000207103] Chr6:26545571..27115102 [GRCh37]
Chr6:6p22.2-22.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain Intrauterine growth retardation [RCV000512067] Chr6:6p25.3-q27 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain Abnormality of the ear [RCV000510595] Chr6:6p25.3-q27 pathogenic
GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3 copy number gain not provided [RCV000682658] Chr6:6p22.2-22.1 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1(chr6:27093821-27158033)x3 copy number gain not provided [RCV000745567] Chr6:27093821..27158033 [GRCh37]
Chr6:6p22.1		 benign
NM_003495.3(H4C9):c.306C>T (p.Gly102=) single nucleotide variant not provided [RCV000961690] Chr6:27139614 [GRCh38]
Chr6:27107393 [GRCh37]
Chr6:6p22.1		 benign
NM_003495.3(H4C9):c.241A>G (p.Thr81Ala) single nucleotide variant Tessadori-Van Haaften neurodevelopmental syndrome 4 [RCV006703680] Chr6:27139549 [GRCh38]
Chr6:27107328 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.236G>A (p.Arg79His) single nucleotide variant not specified [RCV006429819] Chr6:27139544 [GRCh38]
Chr6:27107323 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.196G>C (p.Val66Leu) single nucleotide variant not specified [RCV006429820] Chr6:27139504 [GRCh38]
Chr6:27107283 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.58C>T (p.Arg20Cys) single nucleotide variant not specified [RCV006429822] Chr6:27139366 [GRCh38]
Chr6:27107145 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.227A>G (p.His76Arg) single nucleotide variant TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 [RCV003152474] Chr6:27139535 [GRCh38]
Chr6:27107314 [GRCh37]
Chr6:6p22.1		 pathogenic
NM_003495.3(H4C9):c.122G>T (p.Arg41Leu) single nucleotide variant TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 [RCV003152473] Chr6:27139430 [GRCh38]
Chr6:27107209 [GRCh37]
Chr6:6p22.1		 pathogenic
NM_003495.3(H4C9):c.147C>T (p.Gly49=) single nucleotide variant not provided [RCV005640943] Chr6:27139455 [GRCh38]
Chr6:27107234 [GRCh37]
Chr6:6p22.1		 likely benign
NM_003495.3(H4C9):c.200T>C (p.Ile67Thr) single nucleotide variant not specified [RCV005576663] Chr6:27139508 [GRCh38]
Chr6:27107287 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.52C>T (p.Arg18Cys) single nucleotide variant Tessadori-Van Haaften neurodevelopmental syndrome 4 [RCV005604358] Chr6:27139360 [GRCh38]
Chr6:27107139 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.76A>G (p.Asn26Asp) single nucleotide variant Tessadori-Van Haaften neurodevelopmental syndrome 4 [RCV006249160] Chr6:27139384 [GRCh38]
Chr6:27107163 [GRCh37]
Chr6:6p22.1		 likely benign
NM_003495.3(H4C9):c.4T>C (p.Ser2Pro) single nucleotide variant not specified [RCV005576664] Chr6:27139312 [GRCh38]
Chr6:27107091 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.271C>T (p.Leu91Phe) single nucleotide variant not specified [RCV004364089] Chr6:27139579 [GRCh38]
Chr6:27107358 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_080593.2(H2BC12):c.*10-670C>A single nucleotide variant Craniosynostosis 7 [RCV005859902] Chr6:27139351 [GRCh38]
Chr6:27107130 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.184T>A (p.Phe62Ile) single nucleotide variant not specified [RCV006429821] Chr6:27139492 [GRCh38]
Chr6:27107271 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.307G>T (p.Gly103Cys) single nucleotide variant not specified [RCV004396843] Chr6:27139615 [GRCh38]
Chr6:27107394 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.57C>A (p.His19Gln) single nucleotide variant not specified [RCV004396845] Chr6:27139365 [GRCh38]
Chr6:27107144 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.40G>A (p.Gly14Arg) single nucleotide variant not specified [RCV004396844] Chr6:27139348 [GRCh38]
Chr6:27107127 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.262G>A (p.Val88Ile) single nucleotide variant not specified [RCV004627348] Chr6:27139570 [GRCh38]
Chr6:27107349 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.8G>A (p.Gly3Glu) single nucleotide variant not specified [RCV004930766] Chr6:27139316 [GRCh38]
Chr6:27107095 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.194A>G (p.Asn65Ser) single nucleotide variant not specified [RCV004917252] Chr6:27139502 [GRCh38]
Chr6:27107281 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.10C>T (p.Arg4Cys) single nucleotide variant not specified [RCV005346483] Chr6:27139318 [GRCh38]
Chr6:27107097 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.308G>A (p.Gly103Asp) single nucleotide variant not specified [RCV005576665] Chr6:27139616 [GRCh38]
Chr6:27107395 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.50A>T (p.Lys17Met) single nucleotide variant not specified [RCV005576662] Chr6:27139358 [GRCh38]
Chr6:27107137 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.23G>A (p.Gly8Asp) single nucleotide variant not specified [RCV005846201] Chr6:27139331 [GRCh38]
Chr6:27107110 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.159G>C (p.Glu53Asp) single nucleotide variant not specified [RCV005857150] Chr6:27139467 [GRCh38]
Chr6:27107246 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.134A>G (p.Lys45Arg) single nucleotide variant not specified [RCV004396840] Chr6:27139442 [GRCh38]
Chr6:27107221 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004396841] Chr6:27139330 [GRCh38]
Chr6:27107109 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.23G>C (p.Gly8Ala) single nucleotide variant not specified [RCV004396842] Chr6:27139331 [GRCh38]
Chr6:27107110 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.250G>A (p.Ala84Thr) single nucleotide variant not specified [RCV004917251] Chr6:27139558 [GRCh38]
Chr6:27107337 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.58C>G (p.Arg20Gly) single nucleotide variant not specified [RCV005346484] Chr6:27139366 [GRCh38]
Chr6:27107145 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_003495.3(H4C9):c.229G>A (p.Ala77Thr) single nucleotide variant not specified [RCV005846202] Chr6:27139537 [GRCh38]
Chr6:27107316 [GRCh37]
Chr6:6p22.1		 uncertain significance

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
WI-11733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,106,087 - 27,106,215UniSTSGRCh37
Build 36627,214,066 - 27,214,194RGDNCBI36
Celera628,712,086 - 28,712,214RGD
Cytogenetic Map6p21.33UniSTS
HuRef626,914,148 - 26,914,276UniSTS
GeneMap99-GB4 RH Map6118.22UniSTS
Whitehead-RH Map6160.2UniSTS
NCBI RH Map6353.4UniSTS
RH79884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,107,415 - 27,107,520UniSTSGRCh37
Build 36627,215,394 - 27,215,499RGDNCBI36
Celera628,713,414 - 28,713,519RGD
Cytogenetic Map6p21.33UniSTS
HuRef626,915,476 - 26,915,581UniSTS


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
6856 12452 13901 11638 25285 8359 10016 2095 7655 1253 10790 31823 31588 20042 2928 8685 7384 842

Sequence


Ensembl Acc Id: ENST00000615353   ⟹   ENSP00000481486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl627,139,282 - 27,139,678 (+)Ensembl
Ensembl Acc Id: ENST00000715894   ⟹   ENSP00000520530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl627,139,282 - 27,140,640 (+)Ensembl
RefSeq Acc Id: NM_003495   ⟹   NP_003486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38627,139,282 - 27,139,678 (+)NCBI
GRCh37627,107,088 - 27,107,457 (+)ENTREZGENE
Build 36627,215,067 - 27,215,436 (+)NCBI Archive
HuRef626,915,149 - 26,915,518 (+)ENTREZGENE
CHM1_1627,109,410 - 27,109,779 (+)NCBI
T2T-CHM13v2.0627,008,097 - 27,008,493 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003486   ⟸   NM_003495
- UniProtKB: Q6FGB8 (UniProtKB/Swiss-Prot),   Q6DRA9 (UniProtKB/Swiss-Prot),   P02305 (UniProtKB/Swiss-Prot),   P02304 (UniProtKB/Swiss-Prot),   A2VCL0 (UniProtKB/Swiss-Prot),   Q6NWP7 (UniProtKB/Swiss-Prot),   P62805 (UniProtKB/Swiss-Prot),   B2R4R0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481486   ⟸   ENST00000615353
Ensembl Acc Id: ENSP00000520530   ⟸   ENST00000715894

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62805-F1-model_v2 AlphaFold P62805 1-103 view protein structure

Promoters
RGD ID:6804317
Promoter ID:HG_KWN:52629
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:ENST00000354348,   OTTHUMT00000040139
Position:
Human AssemblyChrPosition (strand)Source
Build 36627,214,376 - 27,215,712 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4793 AgrOrtholog
COSMIC H4C9 COSMIC
Ensembl Genes ENSG00000158406 UniProtKB/Swiss-Prot
  ENSG00000197061 UniProtKB/Swiss-Prot
  ENSG00000197238 UniProtKB/Swiss-Prot
  ENSG00000197837 UniProtKB/Swiss-Prot
  ENSG00000270276 UniProtKB/Swiss-Prot
  ENSG00000270882 UniProtKB/Swiss-Prot
  ENSG00000273542 UniProtKB/Swiss-Prot
  ENSG00000274618 UniProtKB/Swiss-Prot
  ENSG00000275126 UniProtKB/Swiss-Prot
  ENSG00000276180 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276966 UniProtKB/Swiss-Prot
  ENSG00000277157 UniProtKB/Swiss-Prot
  ENSG00000278637 UniProtKB/Swiss-Prot
  ENSG00000278705 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000244537.6 UniProtKB/Swiss-Prot
  ENST00000355057.3 UniProtKB/Swiss-Prot
  ENST00000358064.3 UniProtKB/Swiss-Prot
  ENST00000377727.2 UniProtKB/Swiss-Prot
  ENST00000377745.5 UniProtKB/Swiss-Prot
  ENST00000377803.4 UniProtKB/Swiss-Prot
  ENST00000539745.2 UniProtKB/Swiss-Prot
  ENST00000578186.3 UniProtKB/Swiss-Prot
  ENST00000579512.3 UniProtKB/Swiss-Prot
  ENST00000611927.2 UniProtKB/Swiss-Prot
  ENST00000612061.1 UniProtKB/Swiss-Prot
  ENST00000613412.1 UniProtKB/Swiss-Prot
  ENST00000614247.2 UniProtKB/Swiss-Prot
  ENST00000614272.1 UniProtKB/Swiss-Prot
  ENST00000615164.3 UniProtKB/Swiss-Prot
  ENST00000615353 ENTREZGENE
  ENST00000615353.2 UniProtKB/Swiss-Prot
  ENST00000617569.2 UniProtKB/Swiss-Prot
  ENST00000618193.1 UniProtKB/Swiss-Prot
  ENST00000618305.2 UniProtKB/Swiss-Prot
  ENST00000621520.1 UniProtKB/Swiss-Prot
  ENST00000634560.1 UniProtKB/Swiss-Prot
  ENST00000634956.1 UniProtKB/Swiss-Prot
  ENST00000715894.1 UniProtKB/Swiss-Prot
  ENST00000718258.1 UniProtKB/Swiss-Prot
  ENST00000718434.1 UniProtKB/Swiss-Prot
  ENST00000850564.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot
GTEx ENSG00000158406 GTEx
  ENSG00000197061 GTEx
  ENSG00000197238 GTEx
  ENSG00000197837 GTEx
  ENSG00000270276 GTEx
  ENSG00000270882 GTEx
  ENSG00000273542 GTEx
  ENSG00000274618 GTEx
  ENSG00000275126 GTEx
  ENSG00000276180 GTEx
  ENSG00000276966 GTEx
  ENSG00000277157 GTEx
  ENSG00000278637 GTEx
  ENSG00000278705 GTEx
HGNC ID HGNC:4793 ENTREZGENE
Human Proteome Map H4C9 Human Proteome Map
InterPro CENP-T/H4_C UniProtKB/Swiss-Prot
  Histone-fold UniProtKB/Swiss-Prot
  Histone_H4 UniProtKB/Swiss-Prot
  Histone_H4_CS UniProtKB/Swiss-Prot
  TAF_TATA-bd UniProtKB/Swiss-Prot
KEGG Report hsa:121504 UniProtKB/Swiss-Prot
  hsa:554313 UniProtKB/Swiss-Prot
  hsa:8294 UniProtKB/Swiss-Prot
  hsa:8359 UniProtKB/Swiss-Prot
  hsa:8360 UniProtKB/Swiss-Prot
  hsa:8361 UniProtKB/Swiss-Prot
  hsa:8362 UniProtKB/Swiss-Prot
  hsa:8363 UniProtKB/Swiss-Prot
  hsa:8364 UniProtKB/Swiss-Prot
  hsa:8365 UniProtKB/Swiss-Prot
  hsa:8366 UniProtKB/Swiss-Prot
  hsa:8367 UniProtKB/Swiss-Prot
  hsa:8368 UniProtKB/Swiss-Prot
  hsa:8370 UniProtKB/Swiss-Prot
NCBI Gene 8294 ENTREZGENE
OMIM 602833 OMIM
PANTHER HISTONE H4 UniProtKB/Swiss-Prot
Pfam CENP-T_C UniProtKB/Swiss-Prot
PharmGKB PA166351910 PharmGKB
PRINTS HISTONEH4 UniProtKB/Swiss-Prot
PROSITE HISTONE_H4 UniProtKB/Swiss-Prot
SMART SM00417 UniProtKB/Swiss-Prot
  TAF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot
UniProt A2VCL0 ENTREZGENE
  B2R4R0 ENTREZGENE
  H4_HUMAN UniProtKB/Swiss-Prot
  P02304 ENTREZGENE
  P02305 ENTREZGENE
  P62805 ENTREZGENE
  Q6DRA9 ENTREZGENE
  Q6FGB8 ENTREZGENE
  Q6NWP7 ENTREZGENE
UniProt Secondary A2VCL0 UniProtKB/Swiss-Prot
  P02304 UniProtKB/Swiss-Prot
  P02305 UniProtKB/Swiss-Prot
  Q6DRA9 UniProtKB/Swiss-Prot
  Q6FGB8 UniProtKB/Swiss-Prot
  Q6NWP7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H4C9  H4 clustered histone 9  HIST1H4I  histone cluster 1 H4 family member i  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H4I  histone cluster 1 H4 family member i  HIST1H4I  histone cluster 1, H4i  Symbol and/or name change 5135510 APPROVED