Gene Symbol | WHSC1 |
Entrez ID | 7468 |
Uniprot ID | O96028 |
Description | Wolf-Hirschhorn syndrome candidate 1 |
Chromosomal Location | chr4: 1,871,424-1,982,207 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000122 |
negative regulation of transcription from RNA polymerase II promoter |
Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IEA |
BP |
GO:0003149 |
membranous septum morphogenesis |
The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum. |
IEA |
BP |
GO:0003289 |
atrial septum primum morphogenesis |
The process in which anatomical structure of an atrial septum primum is generated and organized. |
IEA |
BP |
GO:0003290 |
atrial septum secundum morphogenesis |
The process in which anatomical structure of an atrial septum secundum is generated and organized. |
IEA |
BP |
GO:0006303 |
double-strand break repair via nonhomologous end joining |
The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear. |
TAS |
BP |
GO:0006351 |
transcription, DNA-templated |
The cellular synthesis of RNA on a template of DNA. |
IEA |
BP |
GO:0009653 |
anatomical structure morphogenesis |
The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
TAS |
BP |
GO:0010452 |
histone H3-K36 methylation |
The modification of histone H3 by addition of one or more methyl groups to lysine at position 36 of the histone. |
IEA |
BP |
GO:0034770 |
histone H4-K20 methylation |
The modification of histone H4 by addition of one or more methyl groups to lysine at position 20 of the histone. |
IEA |
BP |
GO:0048298 |
positive regulation of isotype switching to IgA isotypes |
Any process that activates or increases the frequency, rate or extent of isotype switching to IgA isotypes. |
IEA |
BP |
GO:0060348 |
bone development |
The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. |
IEA |
BP |
GO:0070201 |
regulation of establishment of protein localization |
Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. |
IEA |
BP |
GO:2001032 |
regulation of double-strand break repair via nonhomologous end joining |
Any process that modulates the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
IEA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
CC |
GO:0005694 |
chromosome |
A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
IEA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IEA |
MF |
GO:0003682 |
chromatin binding |
Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0008270 |
zinc ion binding |
Interacting selectively and non-covalently with zinc (Zn) ions. |
IEA |
MF |
GO:0018024 |
histone-lysine N-methyltransferase activity |
Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives. |
TAS |
MF |
GO:0042799 |
histone methyltransferase activity (H4-K20 specific) |
Catalysis of the reaction: S-adenosyl-L-methionine + histone H4 L-lysine (position 20) = S-adenosyl-L-homocysteine + histone H4 N6-methyl-L-lysine (position 20). This reaction is the addition of a methyl group onto lysine at position 20 of the histone H4 protein. |
TAS |
MF |
GO:0043565 |
sequence-specific DNA binding |
Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
IEA |
Domain ID | Description |
---|---|
IPR000313 |
PWWP domain |
IPR001214 |
SET domain |
IPR001841 |
Zinc finger, RING-type |
IPR001965 |
Zinc finger, PHD-type |
IPR003616 |
Post-SET domain |
IPR006560 |
AWS domain |
IPR009071 |
High mobility group box domain |
IPR011011 |
Zinc finger, FYVE/PHD-type |
IPR013083 |
Zinc finger, RING/FYVE/PHD-type |
IPR019786 |
Zinc finger, PHD-type, conserved site |
IPR019787 |
Zinc finger, PHD-finger |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00310 |
Lysine degradation |
KEGG |
hsa05202 |
Transcriptional misregulation in cancer |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0007621 |
Neoplastic Cell Transformation |
C1458155 |
Mammary Neoplasms |
C1956097 |
Wolf-Hirschhorn Syndrome |
C1961102 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Tissue | Cell Type |
---|---|
appendix |
lymphoid tissue |
cerebral cortex |
neuronal cells |
cervix, uterine |
squamous epithelial cells |
duodenum |
glandular cells |
esophagus |
squamous epithelial cells |
hippocampus |
neuronal cells |
lymph node |
germinal center cells |
rectum |
glandular cells |
small intestine |
glandular cells |
testis |
cells in seminiferous ducts |
tonsil |
germinal center cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
MDM2 |
4193 |
Q00987 |
0.49 |
HIST2H3A; HIST2H3C; HIST2H3D |
126961 |
Q71DI3 |
0.49 |
ESR1 |
2099 |
P03372 |
0.52 |
HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4 |
121504 |
P62805 |
0.52 |
ACTB |
60 |
P60709 |
0.63 |
ADAR |
103 |
P55265 |
0.63 |
PARP1 |
142 |
P09874 |
0.63 |
ARHGAP4 |
393 |
P98171 |
0.63 |
ATP5B |
506 |
P06576 |
0.63 |
CDC5L |
988 |
Q99459 |
0.63 |
CSTF3 |
1479 |
Q12996 |
0.63 |
CTNNB1 |
1499 |
P35222 |
0.63 |
DDX1 |
1653 |
Q92499 |
0.63 |
DDX5 |
1655 |
P17844 |
0.63 |
DHX9 |
1660 |
Q08211 |
0.63 |
EWSR1 |
2130 |
Q01844 |
0.63 |
FUS |
2521 |
P35637 |
0.63 |
XRCC6 |
2547 |
P12956 |
0.63 |
GOLGA3 |
2802 |
Q08378 |
0.63 |
HADHA |
3030 |
P40939 |
0.63 |
HDLBP |
3069 |
Q00341 |
0.63 |
HNRNPA1 |
3178 |
P09651 |
0.63 |
HNRNPAB |
3182 |
Q99729 |
0.63 |
HNRNPC |
3183 |
P07910 |
0.63 |
HNRNPD |
3184 |
Q14103 |
0.63 |
HNRNPH1 |
3187 |
P31943 |
0.63 |
HNRNPK |
3190 |
P61978 |
0.63 |
HNRNPL |
3191 |
P14866 |
0.63 |
HNRNPU |
3192 |
Q00839 |
0.63 |
HSD17B4 |
3295 |
P51659 |
0.63 |
HSP90AB1 |
3326 |
P08238 |
0.63 |
HSPD1 |
3329 |
P10809 |
0.63 |
ILF2 |
3608 |
Q12905 |
0.63 |
ILF3 |
3609 |
Q12906 |
0.63 |
KIF11 |
3832 |
P52732 |
0.63 |
LMNA |
4000 |
P02545 |
0.63 |
LMNB1 |
4001 |
P20700 |
0.63 |
MAP1B |
4131 |
P46821 |
0.63 |
MECP2 |
4204 |
P51608 |
0.63 |
HNRNPM |
4670 |
P52272 |
0.63 |
NCL |
4691 |
P19338 |
0.63 |
NONO |
4841 |
Q15233 |
0.63 |
NUMA1 |
4926 |
Q14980 |
0.63 |
PKP2 |
5318 |
Q99959 |
0.63 |
PLEC |
5339 |
Q15149 |
0.63 |
PLRG1 |
5356 |
O43660 |
0.63 |
PRKDC |
5591 |
P78527 |
0.63 |
PRPSAP2 |
5636 |
O60256 |
0.63 |
PTBP1 |
5725 |
P26599 |
0.63 |
PTPN13 |
5783 |
Q12923 |
0.63 |
RANGAP1 |
5905 |
P46060 |
0.63 |
RBBP4 |
5928 |
Q09028 |
0.63 |
RPL6 |
6128 |
Q02878 |
0.63 |
RPLP0 |
6175 |
P05388 |
0.63 |
RPN1 |
6184 |
P04843 |
0.63 |
SFPQ |
6421 |
P23246 |
0.63 |
SMARCA4 |
6597 |
P51532 |
0.63 |
TIAM1 |
7074 |
Q13009 |
0.63 |
TMPO |
7112 |
P42166 |
0.63 |
TOP1 |
7150 |
P11387 |
0.63 |
TOP2B |
7155 |
Q02880 |
0.63 |
EZR |
7430 |
P15311 |
0.63 |
VIM |
7431 |
P08670 |
0.63 |
XRCC5 |
7520 |
P13010 |
0.63 |
SMC1A |
8243 |
Q14683 |
0.63 |
HIST1H3A |
8350 |
P68431 |
0.63 |
SMARCA5 |
8467 |
O60264 |
0.63 |
RRP1 |
8568 |
P56182 |
0.63 |
KHSRP |
8570 |
Q92945 |
0.63 |
IQGAP1 |
8826 |
P46940 |
0.63 |
DDX18 |
8886 |
Q9NVP1 |
0.63 |
BAZ1B |
9031 |
Q9UIG0 |
0.63 |
DDX21 |
9188 |
Q9NR30 |
0.63 |
NOLC1 |
9221 |
Q14978 |
0.63 |
GTF3C4 |
9329 |
Q9UKN8 |
0.63 |
MDC1 |
9656 |
Q14676 |
0.63 |
NUP93 |
9688 |
Q8N1F7 |
0.63 |
SART3 |
9733 |
Q15020 |
0.63 |
THRAP3 |
9967 |
Q9Y2W1 |
0.63 |
RAD50 |
10111 |
Q92878 |
0.63 |
TRIM28 |
10155 |
Q13263 |
0.63 |
MPHOSPH10 |
10199 |
O00566 |
0.63 |
HNRNPR |
10236 |
O43390 |
0.63 |
SF3A1 |
10291 |
Q15459 |
0.63 |
RBM14 |
10432 |
Q96PK6 |
0.63 |
SYNCRIP |
10492 |
O60506 |
0.63 |
DDX17 |
10521 |
Q92841 |
0.63 |
CHERP |
10523 |
Q8IWX8 |
0.63 |
NOP56 |
10528 |
O00567 |
0.63 |
TBL3 |
10607 |
Q12788 |
0.63 |
USP39 |
10713 |
Q53GS9 |
0.63 |
CD3EAP |
10849 |
O15446 |
0.63 |
RUVBL2 |
10856 |
Q9Y230 |
0.63 |
POP1 |
10940 |
Q99575 |
0.63 |
SF3B2 |
10992 |
Q13435 |
0.63 |
PSIP1 |
11168 |
O75475 |
0.63 |
DDX20 |
11218 |
Q9UHI6 |
0.63 |
PDCD11 |
22984 |
Q14690 |
0.63 |
MYCBP2 |
23077 |
O75592 |
0.63 |
RRP12 |
23223 |
Q5JTH9 |
0.63 |
PDS5A |
23244 |
Q29RF7 |
0.63 |
TARDBP |
23435 |
Q13148 |
0.63 |
SF3B3 |
23450 |
Q15393 |
0.63 |
SF3B1 |
23451 |
O75533 |
0.63 |
PES1 |
23481 |
O00541 |
0.63 |
SKIV2L2 |
23517 |
P42285 |
0.63 |
PRPF6 |
24148 |
O94906 |
0.63 |
SUN2 |
25777 |
Q9UH99 |
0.63 |
POLR1A |
25885 |
O95602 |
0.63 |
GEMIN5 |
25929 |
Q8TEQ6 |
0.63 |
TOR1AIP1 |
26092 |
Q5JTV8 |
0.63 |
GNL3 |
26354 |
Q9BVP2 |
0.63 |
AATF |
26574 |
Q9NY61 |
0.63 |
RBMX |
27316 |
P38159 |
0.63 |
PRPF19 |
27339 |
Q9UMS4 |
0.63 |
GEMIN4 |
50628 |
P57678 |
0.63 |
HP1BP3 |
50809 |
Q5SSJ5 |
0.63 |
PCF11 |
51585 |
O94913 |
0.63 |
NOP58 |
51602 |
Q9Y2X3 |
0.63 |
ZFR |
51663 |
Q96KR1 |
0.63 |
GPATCH4 |
54865 |
Q5T3I0 |
0.63 |
SDAD1 |
55153 |
Q9NVU7 |
0.63 |
PBRM1 |
55193 |
Q86U86 |
0.63 |
PSPC1 |
55269 |
Q8WXF1 |
0.63 |
STRBP |
55342 |
Q96SI9 |
0.63 |
CDKN2AIP |
55602 |
Q9NXV6 |
0.63 |
UTP3 |
57050 |
Q9NQZ2 |
0.63 |
DDX24 |
57062 |
Q9GZR7 |
0.63 |
DHX37 |
57647 |
Q8IY37 |
0.63 |
CCAR2 |
57805 |
Q8N163 |
0.63 |
RBM25 |
58517 |
P49756 |
0.63 |
DDX31 |
64794 |
Q9H8H2 |
0.63 |
DDX50 |
79009 |
Q9BQ39 |
0.63 |
DDX54 |
79039 |
Q8TDD1 |
0.63 |
WDR77 |
79084 |
Q9BQA1 |
0.63 |
NOL10 |
79954 |
Q9BSC4 |
0.63 |
RAVER1 |
125950 |
Q8IY67 |
0.63 |
HNRNPA3 |
220988 |
P51991 |
0.63 |
HNRNPUL2 |
221092 |
Q1KMD3 |
0.63 |
CCDC88C |
440193 |
Q9P219 |
0.63 |
SMN1; SMN2 |
6606 |
Q16637 |
0.63 |
APP |
351 |
P05067 |
0.66 |
HIST3H3 |
8290 |
Q16695 |
0.66 |
IFI16 |
3428 |
Q16666 |
0.73 |
RBM10 |
8241 |
P98175 |
0.73 |
MYBBP1A |
10514 |
Q9BQG0 |
0.73 |
AR |
367 |
P10275 |
0.78 |
WHSC1 |
7468 |
O96028 |
0.83 |
HDAC2 |
3066 |
Q92769 |
0.88 |
LSM1 |
27257 |
O15116 |
0.49 |
MNDA |
4332 |
P41218 |
0.63 |
RPL8 |
6132 |
P62917 |
0.63 |
RPL14 |
9045 |
P50914 |
0.63 |
KDM1A |
23028 |
O60341 |
0.63 |
ZC3H3 |
23144 |
Q8IXZ2 |
0.63 |
BRD4 |
23476 |
O60885 |
0.63 |
DTL |
51514 |
Q9NZJ0 |
0.63 |
SIRT7 |
51547 |
Q9NRC8 |
0.63 |
PRR11 |
55771 |
Q96HE9 |
0.63 |
RBM4B |
83759 |
Q9BQ04 |
0.63 |
PCNA |
5111 |
P12004 |
0.68 |
SIN3B |
23309 |
O75182 |
0.72 |
SIN3A |
25942 |
Q96ST3 |
0.72 |
HDAC1 |
3065 |
Q13547 |
0.89 |