Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	methyl-CpG binding	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	8.42e-09	31	46	5	GO:0008327
GeneOntologyMolecularFunction	ammonium channel activity	RHCE RHD	3.38e-04	12	46	2	GO:0008519
GeneOntologyBiologicalProcess	DNA methylation-dependent constitutive heterochromatin formation	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	4.01e-08	44	45	5	GO:0006346
GeneOntologyBiologicalProcess	facultative heterochromatin formation	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	1.26e-07	55	45	5	GO:0140718
GeneOntologyBiologicalProcess	heterochromatin formation	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	2.74e-05	163	45	5	GO:0031507
GeneOntologyBiologicalProcess	ammonium homeostasis	RHCE RHD	6.94e-05	6	45	2	GO:0097272
GeneOntologyBiologicalProcess	negative regulation of gene expression, epigenetic	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	7.80e-05	203	45	5	GO:0045814
GeneOntologyCellularComponent	ankyrin-1 complex	RHCE RHD	2.11e-04	10	46	2	GO:0170014
HumanPheno	Anti-erythrocyte autoantibody positivity	RHCE RHD	2.10e-05	3	14	2	HP:6000388
HumanPheno	Positive direct antiglobulin test	RHCE RHD	2.10e-05	3	14	2	HP:0032366
HumanPheno	Hemolytic anemia	IRF2BP2 PIGT CIITA RHCE RHD	5.62e-05	167	14	5	HP:0001878
HumanPheno	Anemia due to reduced life span of red cells	IRF2BP2 PIGT CIITA RHCE RHD	6.12e-05	170	14	5	HP:0011895
HumanPheno	Abnormal circulating enzyme concentration or activity	MPL IRF2BP2 PIGT PGAP3 ALG12 IARS1 RHCE RHD	1.51e-04	688	14	8	HP:0012379
HumanPheno	Spherocytosis	RHCE RHD	1.95e-04	8	14	2	HP:0004444
HumanPheno	Miscarriage	MPL RHCE RHD	2.19e-04	45	14	3	HP:0005268
HumanPheno	Abnormal enzyme concentration or activity	MPL IRF2BP2 PIGT PGAP3 ALG12 IARS1 RHCE RHD	2.29e-04	729	14	8	HP:0034684
Domain	MeCpG-bd_2/3_C_dom	MBD3L5 MBD3L3 MBD3L4 MBD3L2	1.02e-09	7	45	4	IPR025884
Domain	MBD2/MBD3_p55-bd	MBD3L5 MBD3L3 MBD3L4 MBD3L2	1.02e-09	7	45	4	IPR032343
Domain	MBD_C	MBD3L5 MBD3L3 MBD3L4 MBD3L2	1.02e-09	7	45	4	PF14048
Domain	MBDa	MBD3L5 MBD3L3 MBD3L4 MBD3L2	1.02e-09	7	45	4	PF16564
Domain	Ammonium_transpt	RHCE RHD	5.65e-05	5	45	2	IPR001905
Domain	Ammonium_transp	RHCE RHD	5.65e-05	5	45	2	PF00909
Domain	NH4_transpt_AmtB-like_dom	RHCE RHD	5.65e-05	5	45	2	IPR024041
Domain	RhesusRHD	RHCE RHD	5.65e-05	5	45	2	IPR002229
Domain	-	RHCE RHD	1.18e-04	7	45	2	1.10.3430.10
Domain	Ammonium/urea_transptr	RHCE RHD	1.18e-04	7	45	2	IPR029020
Domain	LRR_6	PHLPP1 LUM CIITA	3.14e-04	55	45	3	PF13516
Domain	ARM-type_fold	DOCK3 AP2A2 NBEAL1 RPTOR	8.85e-03	339	45	4	IPR016024
Domain	LRR	PHLPP1 LUM CIITA	1.25e-02	201	45	3	PS51450
Pubmed	Haploid male germ cell- and oocyte-specific Mbd3l1 and Mbd3l2 genes are dispensable for early development, fertility, and zygotic DNA demethylation in the mouse.	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	1.94e-14	6	46	5	18942147
Pubmed	MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG-binding proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific transcriptional repressor.	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	1.94e-14	6	46	5	12504854
Pubmed	MBD3L2 interacts with MBD3 and components of the NuRD complex and can oppose MBD2-MeCP1-mediated methylation silencing.	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	9.62e-12	15	46	5	15701600
Pubmed	Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region.	RHCE RHD	1.71e-06	2	46	2	8188244
Pubmed	E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop.	RHCE RHD	1.71e-06	2	46	2	11724987
Pubmed	Variant RH alleles and Rh immunisation in patients with sickle cell disease.	RHCE RHD	1.71e-06	2	46	2	24960646
Pubmed	DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule.	RHCE RHD	1.71e-06	2	46	2	17900276
Pubmed	RHD and RHCE molecular analysis in weak D blood donors and in patients with Rh antibodies against their own corresponding Rh antigen.	RHCE RHD	1.71e-06	2	46	2	32697929
Pubmed	The Rh blood group system: a review.	RHCE RHD	1.71e-06	2	46	2	10627438
Pubmed	RHCEceMO is frequently in cis to RHDDAU0 and encodes a hr(S) -, hr(B) -, RH:-61 phenotype in black persons: clinical significance.	RHCE RHD	1.71e-06	2	46	2	23772606
Pubmed	Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors.	RHCE RHD	1.71e-06	2	46	2	30418133
Pubmed	A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes.	RHCE RHD	1.71e-06	2	46	2	23550903
Pubmed	Molecular cloning and primary structure of the human blood group RhD polypeptide.	RHCE RHD	1.71e-06	2	46	2	1438298
Pubmed	Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population.	RHCE RHD	1.71e-06	2	46	2	37823181
Pubmed	Sequence diversity of the Rh blood group system in Basques.	RHCE RHD	1.71e-06	2	46	2	30089826
Pubmed	Determination of the N-terminal sequence of human red cell Rh(D) polypeptide and demonstration that the Rh(D), (c), and (E) antigens are carried by distinct polypeptide chains.	RHCE RHD	1.71e-06	2	46	2	3135863
Pubmed	Review: the molecular basis of the Rh blood group phenotypes.	RHCE RHD	1.71e-06	2	46	2	15373666
Pubmed	Molecular background of D(C)(e) haplotypes within the white population.	RHCE RHD	1.71e-06	2	46	2	12084172
Pubmed	Intron 4 of the RH Gene in Han Chinese, Tibetan, and Mongol Populations.	RHCE RHD	1.71e-06	2	46	2	26579938
Pubmed	The analysis of nucleotide substitutions, gaps, and recombination events between RHD and RHCE genes through complete sequencing.	RHCE RHD	1.71e-06	2	46	2	10924335
Pubmed	Sequences and evolution of mammalian RH gene transcripts and proteins.	RHCE RHD	1.71e-06	2	46	2	9811965
Pubmed	A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes.	RHCE RHD	1.71e-06	2	46	2	12857961
Pubmed	Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD.	RHCE RHD	1.71e-06	2	46	2	20233350
Pubmed	Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.	RHCE RHD	1.71e-06	2	46	2	34968422
Pubmed	Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia.	RHCE RHD	1.71e-06	2	46	2	29193104
Pubmed	Regarding the size of Rh proteins.	RHCE RHD	1.71e-06	2	46	2	1898705
Pubmed	Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety.	RHCE RHD	1.71e-06	2	46	2	12393640
Pubmed	Molecular genetic basis of the human Rhesus blood group system.	RHCE RHD	1.71e-06	2	46	2	8220426
Pubmed	PCR screening for common weak D types shows different distributions in three Central European populations.	RHCE RHD	1.71e-06	2	46	2	11161244
Pubmed	RH diversity in Mali: characterization of a new haplotype RHDDIVa/RHCEceTI(D2).	RHCE RHD	1.71e-06	2	46	2	25857637
Pubmed	A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype.	RHCE RHD	1.71e-06	2	46	2	8900235
Pubmed	The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCEce818T alleles that are often in cis to RHDDOL.	RHCE RHD	1.71e-06	2	46	2	22738288
Pubmed	RHDweak partial 4.0 is associated with an altered RHCEce(48C, 105T, 733G, 744C, 1025T) allele in the Tunisian population.	RHCE RHD	1.71e-06	2	46	2	23742316
Pubmed	Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system.	RHCE RHD	1.71e-06	2	46	2	7916743
Pubmed	Multiple Rh messenger RNA isoforms are produced by alternative splicing.	RHCE RHD	1.71e-06	2	46	2	1379850
Pubmed	A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa.	RHCE RHD	1.71e-06	2	46	2	24033223
Pubmed	RHDDOL1 and RHDDOL2 encode a partial D antigen and are in cis with the rare RHCE*ceBI allele in people of African descent.	RHCE RHD	1.71e-06	2	46	2	22690701
Pubmed	No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.	RHCE RHD	1.71e-06	2	46	2	26872772
Pubmed	RHCEceTI encodes partial c and partial e and is often in cis to RHDDIVa.	RHCE RHD	1.71e-06	2	46	2	22804620
Pubmed	RHCE variants inherited with altered RHD alleles in Brazilian blood donors.	RHCE RHD	1.71e-06	2	46	2	27111588
Pubmed	Characterization of the mouse Rh blood group gene.	RHCE RHD	1.71e-06	2	46	2	10329015
Pubmed	Alteration of RH gene structure and expression in human dCCee and DCW-red blood cells: phenotypic homozygosity versus genotypic heterozygosity.	RHCE RHD	1.71e-06	2	46	2	8822955
Pubmed	Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene.	RHCE RHD	1.71e-06	2	46	2	8808597
Pubmed	Molecular background of Rh D-positive, D-negative, D(el) and weak D phenotypes in Chinese.	RHCE RHD	1.71e-06	2	46	2	12201845
Pubmed	Intricate combinatorial patterns of exon splicing generate multiple Rh-related isoforms in human erythroid cells.	RHCE RHD	1.71e-06	2	46	2	7789951
Pubmed	Generation and characterisation of Rhd and Rhag null mice.	RHCE RHD	5.13e-06	3	46	2	19807729
Pubmed	Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures.	RHCE RHD	5.13e-06	3	46	2	16584906
Pubmed	Evolutionary history of the Rh blood group-related genes in vertebrates.	RHCE RHD	5.13e-06	3	46	2	10970100
Pubmed	The members of the RH gene family (RH50 and RH30) followed different evolutionary pathways.	RHCE RHD	5.13e-06	3	46	2	9929383
Pubmed	Protein-sequence studies on Rh-related polypeptides suggest the presence of at least two groups of proteins which associate in the human red-cell membrane.	RHCE RHD	5.13e-06	3	46	2	3146980
Pubmed	Conserved evolution of the Rh50 gene compared to its homologous Rh blood group gene.	RHCE RHD	5.13e-06	3	46	2	9705835
Pubmed	Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence.	RHCE RHD	1.03e-05	4	46	2	12459264
Pubmed	PHLPP-mediated dephosphorylation of S6K1 inhibits protein translation and cell growth.	PHLPP1 EIF3B	1.03e-05	4	46	2	21986499
Pubmed	HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.	RHCE RHD	1.03e-05	4	46	2	33675036
Pubmed	Association between ABO, Rhesus blood group systems and haemoglobin genotype among confirmed HIV/AIDS-TB co-infected patients in Enugu Urban, Nigeria.	RHCE RHD	1.03e-05	4	46	2	16722361
Pubmed	RHCE represents the ancestral RH position, while RHD is the duplicated gene.	RHCE RHD	1.71e-05	5	46	2	11902138
Pubmed	PLD2 forms a functional complex with mTOR/raptor to transduce mitogenic signals.	PLD2 RPTOR	1.71e-05	5	46	2	16837165
Pubmed	Evolutionary conservation and diversification of Rh family genes and proteins.	RHCE RHD	1.71e-05	5	46	2	16227429
Pubmed	mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation events.	EIF3B RPTOR	7.65e-05	10	46	2	16286006
Pubmed	Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway.	IARS1 RPTOR	7.65e-05	10	46	2	22424946
Pubmed	Genome-wide CRISPR-cas9 knockout screening identifies GRB7 as a driver for MEK inhibitor resistance in KRAS mutant colon cancer.	IARS1 RPTOR EIF2B4	8.13e-05	63	46	3	34718347
Pubmed	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol].	RHCE RHD	9.34e-05	11	46	2	11436564
Pubmed	The mouse Rhl1 and Rhag genes: sequence, organization, expression, and chromosomal mapping.	RHCE RHD	1.12e-04	12	46	2	10495887
Pubmed	mTORC2 can associate with ribosomes to promote cotranslational phosphorylation and stability of nascent Akt polypeptide.	EIF3B RPTOR	1.54e-04	14	46	2	21045808
Pubmed	Targeting of EGFR by a combination of antibodies mediates unconventional EGFR trafficking and degradation.	AP2A2 RPTOR	2.88e-04	19	46	2	31959764
Pubmed	The DNA sequence and biology of human chromosome 19.	MBD3L5 AMH MBD3L3 MBD3L4	5.42e-04	284	46	4	15057824
Pubmed	Placental but not heart defects are associated with elevated hypoxia-inducible factor alpha levels in mice lacking prolyl hydroxylase domain protein 2.	RHCE RHD	6.79e-04	29	46	2	16966370
Pubmed	A multi-factor trafficking site on the spliceosome remodeling enzyme BRR2 recruits C9ORF78 to regulate alternative splicing.	IRF2BP2 PIGT AP2A2 RPTOR EIF2B4	8.45e-04	560	46	5	35241646
Cytoband	19p13.2	MBD3L5 MBD3L3 MBD3L4 MBD3L2 MBD3L2B	3.43e-06	229	46	5	19p13.2
Cytoband	Ensembl 112 genes in cytogenetic band chr19p13	MBD3L5 AMH MBD3L3 MBD3L4 MBD3L2 MBD3L2B	1.39e-04	797	46	6	chr19p13
Cytoband	1p36.11	RHCE RHD	2.15e-03	68	46	2	1p36.11
GeneFamily	Glycosyltransferase family 6\|Blood group antigens	RHCE RHD	1.28e-03	37	26	2	454
ToppCell	Hippocampus-Macroglia-OLIGODENDROCYTE-O2-Trf-Oligodendrocyte.Trf.Plin3_(Plin3)\|Hippocampus / BrainAtlas - Mouse McCarroll V32	MPL TDRD6 MBD3L2 FAM178B	1.43e-06	80	46	4	0d5770c81a223148e57d625ac2c2ae69ab55b36e
ToppCell	Hippocampus-Macroglia-OLIGODENDROCYTE-O2-Trf-Oligodendrocyte.Trf.Plin3_(Plin3)-\|Hippocampus / BrainAtlas - Mouse McCarroll V32	MPL TDRD6 MBD3L2 FAM178B	1.43e-06	80	46	4	413796630e7aeff7c68a69dd2d9b8cd8f56163b4
ToppCell	Bronchial-10x5prime-Hematologic\|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations	AMH FAM178B RHCE RHD	8.74e-06	126	46	4	b6482ef18e6d9e12ba4810ce7845f9f991cb95bc
ToppCell	Bronchial-10x5prime-Hematologic-Erythrocyte\|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations	AMH FAM178B RHCE RHD	8.74e-06	126	46	4	65c7c0e4cfb5ac58d80b4034d42e9f662116e0d3
ToppCell	Bronchial-10x5prime-Hematologic-Erythrocyte-Erythrocyte\|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations	AMH FAM178B RHCE RHD	8.74e-06	126	46	4	12f3d0f60db462f2a9799b3a06005bc871670760
ToppCell	severe_influenza-cDC\|World / disease group, cell group and cell class (v2)	SLC5A9 CIITA FAM178B SCN9A	2.29e-05	161	46	4	802f8cafb5f499e3b2ec0193d6eb1ac9320b9287
Disease	Anemia, Hemolytic, Congenital	RHCE RHD	1.88e-06	2	41	2	C0002881
Disease	Rh Deficiency Syndrome	RHCE RHD	5.65e-06	3	41	2	C0272052
Disease	Rh-Null, Regulator Type	RHCE RHD	5.65e-06	3	41	2	C1849387

Protein segments in the cluster

Peptide	Gene	Start	Entry
DFCPFSVMRLRSLPS	CATSPERG	636	Q6ZRH7
FSPCERYLVTFSPLM	EIF3B	381	P55884
VRCFRILLDPYRSMP	CTXN3	46	Q4LDR2
MRCLAPRPAGSYLSE	CIITA	1	P33076
MFYCTRTLPNVLALP	ALG12	141	Q9BV10
CLLRLYRTSPDLVPM	AP2A2	171	O94973
YMRTLRPPCESSLFL	NBEAL1	2526	Q6ZS30
PMTSVRLPCYFENLL	NMRAL1	146	Q9HBL8
SALPMRLTSCIFRRP	MBD3L5	46	A6NJ08
SALPMRLTSCIFRRP	MBD3L2B	46	A0A1B0GVZ6
CFTRMTPALLLLPRS	AMH	241	P03971
LKPYMSFLTQCRPLS	EIF2B4	256	Q9UI10
PSRMEILSTLLRNPY	PLEKHH2	1101	Q8IVE3
SALPMRLTSCIFRRP	MBD3L3	46	A6NE82
PLRYPLLMSGAVCFR	OR6S1	131	Q8NH40
PLLDFMYTSRLRLSP	BCL6B	91	Q8N143
LLLPTYRDRPSSAMY	DOCK3	1781	Q8IZD9
FCPRSNPLYMTSREI	CPLANE1	2926	Q9H799
ISETSLPPDMYECLR	LUM	316	P51884
MLSRVEPSDRYPQCL	DDX19A	151	Q9NUU7
SRRQSCYLCDLPRMP	IRF2BP2	11	Q7Z5L9
SALPMRLTSCIFRRP	MBD3L4	46	A6NDZ8
YLAICRPLRYPTIMT	OR11G2	161	Q8NGC1
RPLRYPTIMTRRLCT	OR11G2	166	Q8NGC1
SALPMRLTSCIFRRP	MBD3L2	46	Q8NHZ7
LASLVMLCRYRTFVP	PGAP3	116	Q96FM1
MLCRYRTFVPASSPM	PGAP3	121	Q96FM1
MLSYPPTRRALIVGC	SLC2A13	316	Q96QE2
CSSLRYLLPEYFRMP	TDRD6	356	O60522
PDLRMLGFSSPYRCL	TMEM229A	81	B2RXF0
YTVPLCRMRSKTSRP	MAP3K21	1011	Q5TCX8
MRPSSLRQYLDSVPL	FAM178B	561	Q8IXR5
LRCEEAPSRPALLYM	SFT2D3	136	Q587I9
LYMLSPFSPLRRISI	SCN9A	106	Q15858
LLRMILEFSYPAPAC	SLC5A9	501	Q2M3M2
VLLSLCRLMAPYTPF	IARS1	761	P41252
IMRSYNCTPVSSPRL	RPTOR	356	Q8N122
LTRLLMAAAFPVCYP	CNNM1	361	Q9NRU3
MSSKYPRSVRRCLPL	RHD	1	Q02161
MSSKYPRSVRRCLPL	RHCE	1	P18577
FRMFSRTLTEPCPLA	PIGT	261	Q969N2
AFLLLPMCQYLTRPC	SPPL3	111	Q8TCT6
LSMCPRPTPAVARYR	TESK1	581	Q15569
YRRLQPSCLGTMPLS	MPL	591	P40238
PLPLSRSYIMSCEEE	PHLPP1	1301	O60346
YRSRPLCLDMEASPN	RAPGEFL1	616	Q9UHV5
MSLLPLARFAVAYSP	PLD2	121	O14939
YMVFPRLFTCPTLET	VPS26C	251	O14972