Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tessadori-van Haaften Neurodevelopmental Syndrome 2 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tessadori-van Haaften Neurodevelopmental Syndrome 2 | | IAGP | | 7240710 | | OMIM | | |
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# | 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 |
PMID:3035717 | PMID:6265100 | PMID:9439656 | PMID:9540062 | PMID:9566873 | PMID:10220385 | PMID:11080476 | PMID:11689053 | PMID:12408966 | PMID:12477932 | PMID:14585971 | PMID:14657027 |
PMID:14718166 | PMID:15161933 | PMID:15670829 | PMID:15933069 | PMID:16415788 | PMID:16917504 | PMID:17540172 | PMID:17675446 | 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:21873635 | PMID:21888893 | PMID:21907836 | PMID:21983900 | PMID:22145905 | PMID:22343720 | PMID:22368283 | PMID:22373579 |
PMID:22493515 | PMID:22615379 | PMID:22623428 | PMID:22658674 | PMID:22681889 | PMID:23071334 | PMID:23075851 | PMID:23142979 | PMID:23329831 | PMID:23376485 | PMID:23377543 | PMID:23533145 |
PMID:23760478 | PMID:23831576 | PMID:23979707 | PMID:24183680 | PMID:24244333 | PMID:24311584 | PMID:24360279 | PMID:24361270 | PMID:24525235 | PMID:24596249 | PMID:24699735 | PMID:24711643 |
PMID:24726341 | PMID:24981860 | PMID:25071155 | PMID:25281266 | PMID:25416818 | 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:27153538 | PMID:28514442 | PMID:28902428 | PMID:28977666 | PMID:29676528 | PMID:29844126 |
PMID:30021884 | PMID:30554943 | PMID:31142837 | PMID:31759698 | PMID:31790919 | PMID:32296183 | PMID:32814053 | PMID:32877691 | PMID:33080218 | PMID:33857403 | PMID:34079125 | PMID:35264565 |
PMID:36180920 |
H4C11 (Homo sapiens - human) |
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H4c11 (Mus musculus - house mouse) |
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H4C11 (Canis lupus familiaris - dog) |
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LOC101957180 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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Variants in H4C11
9 total 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] | Chr6:26280579..28727313 [GRCh38] Chr6:26280807..28695090 [GRCh37] Chr6:26388786..28803069 [NCBI36] Chr6:6p22.2-22.1 |
uncertain significance |
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 | copy number gain | See cases [RCV000138956] | Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33 |
pathogenic |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207227] | Chr6:27775494..27861432 [GRCh37] Chr6:6p22.1 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
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(chr6:27609423-28016099)x3 | copy number gain | not provided [RCV000745576] | Chr6:27609423..28016099 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27645278-27902992)x3 | copy number gain | not provided [RCV000745579] | Chr6:27645278..27902992 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27710165-27885437)x3 | copy number gain | not provided [RCV000745581] | Chr6:27710165..27885437 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27713299-27872832)x3 | copy number gain | not provided [RCV000745582] | Chr6:27713299..27872832 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27715243-27871553)x3 | copy number gain | not provided [RCV000745583] | Chr6:27715243..27871553 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27715243-27877446)x3 | copy number gain | not provided [RCV000745584] | Chr6:27715243..27877446 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27715243-27890631)x3 | copy number gain | not provided [RCV000745585] | Chr6:27715243..27890631 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27715470-27886830)x3 | copy number gain | not provided [RCV000745586] | Chr6:27715470..27886830 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27745142-27870358)x3 | copy number gain | not provided [RCV000745587] | Chr6:27745142..27870358 [GRCh37] Chr6:6p22.1 |
benign |
NM_021968.4(H4C11):c.261G>A (p.Val87=) | single nucleotide variant | not provided [RCV000949286] | Chr6:27824385 [GRCh38] Chr6:27792163 [GRCh37] Chr6:6p22.1 |
likely benign |
NM_021968.4(H4C11):c.*14T>C | single nucleotide variant | not provided [RCV001613829] | Chr6:27824450 [GRCh38] Chr6:27792228 [GRCh37] Chr6:6p22.1 |
benign |
NM_021968.4(H4C11):c.*7C>T | single nucleotide variant | not provided [RCV001657540] | Chr6:27824443 [GRCh38] Chr6:27792221 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27616157-28011557)x3 | copy number gain | not provided [RCV001005790] | Chr6:27616157..28011557 [GRCh37] Chr6:6p22.1 |
likely benign |
NM_021968.4(H4C11):c.136C>T (p.Arg46Cys) | single nucleotide variant | not provided [RCV001815950] | Chr6:27824260 [GRCh38] Chr6:27792038 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_021968.4(H4C11):c.274A>G (p.Lys92Glu) | single nucleotide variant | Tessadori-van Haaften neurodevelopmental syndrome 2 [RCV001838835] | Chr6:27824398 [GRCh38] Chr6:27792176 [GRCh37] Chr6:6p22.1 |
pathogenic |
NM_021968.4(H4C11):c.274A>C (p.Lys92Gln) | single nucleotide variant | Tessadori-van Haaften neurodevelopmental syndrome 1 [RCV001838836] | Chr6:27824398 [GRCh38] Chr6:27792176 [GRCh37] Chr6:6p22.1 |
pathogenic |
NM_021968.4(H4C11):c.121C>T (p.Arg41Cys) | single nucleotide variant | not provided [RCV003152467] | Chr6:27824245 [GRCh38] Chr6:27792023 [GRCh37] Chr6:6p22.1 |
uncertain significance |
NM_021968.4(H4C11):c.106C>T (p.Arg36Trp) | single nucleotide variant | Tessadori-van Haaften neurodevelopmental syndrome 2 [RCV003477096] | Chr6:27824230 [GRCh38] Chr6:27792008 [GRCh37] Chr6:6p22.1 |
likely pathogenic |
NM_021968.4(H4C11):c.9C>T (p.Gly3=) | single nucleotide variant | not provided [RCV003431696] | Chr6:27824133 [GRCh38] Chr6:27791911 [GRCh37] Chr6:6p22.1 |
benign |
GRCh37/hg19 6p22.1(chr6:27613035-28021256)x3 | copy number gain | not specified [RCV003986654] | Chr6:27613035..28021256 [GRCh37] Chr6:6p22.1 |
uncertain significance |
RH79842 |
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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 | adipose tissue | appendage | |
High | |||||||||||||||
Medium | 1 | ||||||||||||||
Low | 261 | 401 | 622 | 85 | 332 | 81 | 323 | 67 | 260 | 6 | 394 | 511 | 4 | 119 | 244 |
Below cutoff | 1077 | 1417 | 595 | 168 | 572 | 113 | 1522 | 701 | 1606 | 59 | 514 | 494 | 55 | 545 | 973 |
RefSeq Transcripts | NM_021968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AF086564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL049822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY128663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC017361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC148271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M10231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X60484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000355057 ⟹ ENSP00000347168 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_021968 ⟹ NP_068803 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_068803 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH17361 | (Get FASTA) | NCBI Sequence Viewer |
AAI48272 | (Get FASTA) | NCBI Sequence Viewer | |
AAN01448 | (Get FASTA) | NCBI Sequence Viewer | |
CAA43014 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03111 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000244537.6 | ||
ENSP00000347168 | |||
ENSP00000347168.2 | |||
ENSP00000350767.3 | |||
ENSP00000366956.1 | |||
ENSP00000366974.2 | |||
ENSP00000367034.3 | |||
ENSP00000443017.1 | |||
ENSP00000462355.1 | |||
ENSP00000462667.1 | |||
ENSP00000478519.1 | |||
ENSP00000478786.1 | |||
ENSP00000479106.2 | |||
ENSP00000479461.2 | |||
ENSP00000479794.2 | |||
ENSP00000480960.2 | |||
ENSP00000481343.1 | |||
ENSP00000481486.1 | |||
ENSP00000481507.1 | |||
ENSP00000482412.1 | |||
ENSP00000484789.1 | |||
ENSP00000489319.1 | |||
ENSP00000489567.1 | |||
GenBank Protein | P62805 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_068803 ⟸ NM_021968 |
- 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: |
RefSeq Acc Id: | ENSP00000347168 ⟸ ENST00000355057 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P62805-F1-model_v2 | AlphaFold | P62805 | 1-103 | view protein structure |
RGD ID: | 6804318 | ||||||||
Promoter ID: | HG_KWN:52653 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000355057, OTTHUMT00000040155 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:4785 | AgrOrtholog |
COSMIC | H4C11 | COSMIC |
Ensembl Genes | ENSG00000158406 | UniProtKB/Swiss-Prot |
ENSG00000197061 | UniProtKB/Swiss-Prot | |
ENSG00000197238 | Ensembl, ENTREZGENE, 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 | 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 | ENTREZGENE | |
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 | |
ENST00000615353.2 | 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 | |
Gene3D-CATH | 1.10.20.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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:4785 | ENTREZGENE |
Human Proteome Map | H4C11 | Human Proteome Map |
InterPro | CENP-T/H4_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Histone-fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Histone_H4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Histone_H4_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TAF_TATA-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:121504 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
hsa:554313 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8294 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8359 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8360 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8361 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8362 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8363 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8364 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8365 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8366 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8367 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8368 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hsa:8370 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NCBI Gene | 8363 | ENTREZGENE |
OMIM | 602826 | OMIM |
PANTHER | HISTONE H4 | UniProtKB/Swiss-Prot |
HISTONE H4 | UniProtKB/Swiss-Prot | |
HISTONE H4 | UniProtKB/TrEMBL | |
HISTONE H4 | UniProtKB/TrEMBL | |
Pfam | CENP-T_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | HISTONEH4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | HISTONE_H4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | SM00417 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TAF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF47113 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A2VCL0 | ENTREZGENE |
B2R4R0 | ENTREZGENE, UniProtKB/TrEMBL | |
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 |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-07-30 | H4C11 | H4 clustered histone 11 | HIST1H4J | histone cluster 1 H4 family member j | Symbol and/or name change | 5135510 | APPROVED |
2016-08-23 | HIST1H4J | histone cluster 1 H4 family member j | HIST1H4J | histone cluster 1, H4j | Symbol and/or name change | 5135510 | APPROVED |