Introduction
Definition and prevalence of intellectual disability
Classification of ID by IQ and syndromic vs. non-syndromic
Causes of ID
Relevance of studying NS-ID genetics
Identifying genes that cause NS-ID: methodology and obstacles
Homozygosity mapping
Advantages and disadvantages of homozygosity mapping
Sequencing candidate genes
Characterization of chromosomal aberrations
Subtelomeric rearrangements and copy number variants
Non-syndromic X-linked intellectual disability (or mental retardation; NS-XLMR)
Non-syndromic autosomal dominant intellectual disability (NS-ADID)
Gene Name | OMIM Ref | X-linked/Autosomal (MR/ID) | Cytogenetic Banda | Phenotypic Expression* | Mutation Type | Reference |
---|---|---|---|---|---|---|
ACSL4 | 300157 | X-linked (MRX63 & 68) | Xq22.3 | Males: MR | Missense, splice site | (Meloni et al. 2002) |
Females: Variable | ||||||
AFF2/FMR2 | 300806 | X-linked | Xq28 | Dominantb | 5′ GGC repeat amplification leading to methylation | (Gecz et al. 1996) |
AGTR2 | 300034 | X-linked (MRX88) | Xq23 | Recessive | Missense, Truncating | (Vervoort et al. 2002) |
AP1S2 | 300629 | X-linked (MRX59) | Xp22.2 | Recessive | Truncating | (Tarpey et al. 2006) |
ARHGEF6 | 300267 | X-linked (MRX46) | Xq26.3 | Recessive | Splice site | (Kutsche et al. 2000) |
ARX | 300382 | X-linked | Xp21.3 | Males: MR; Females: Low-normal IQ | In frame insertions/deletions, missense | |
ATRX | 300032 | X-linked | Xq21.1 | Recessive | Missense | (Yntema et al. 2002) |
BRWD3 | 300553 | X-linked (MRX93) | Xq21.1 | Recessive | Missense, frame-shift | (Field et al. 2007) |
CASK | 300172 | X-linked | Xp11.4 | Recessive | Missense | |
CC2D1A | 610055 | Autosomal (MRT3) | 19p13.12 | Recessive | Truncating | (Basel-Vanagaite et al. 2006) |
CDH15 | 114019 | Autosomal (MRD3) | 16q24.3 | Dominant | Missense | (Bhalla et al. 2008) |
CRBN | 609262 | Autosomal (MRT2) | 3p26.3 | Recessive | Truncating | (Higgins et al. 2004) |
DLG3 | 300189 | X-linked (MRX90) | Xq13.1 | Males: MR | Truncating | (Tarpey et al. 2004) |
Females: Variable | ||||||
DOCK8 | 611432 | Autosomal (MRD2) | 9p24.3 | Dominant | Deletion, translocation | (Griggs et al. 2008) |
FGD1 | 305400 | X-linked | Xp11.22 | Recessive | Missense | (Lebel et al. 2002) |
FTSJ1 | 300499 | X-linked (MRX9 & 44) | Xp11.23 | Recessive | Truncating, missense | (Freude et al. 2004) |
GDI1 | 300104 | X-linked (MRX41 & 48) | Xq28 | Dominantb | Truncating, missense | |
GRIK2 | 138244 | Autosomal (MRT6) | 6q21 | Recessive | Truncating | (Motazacker et al. 2007) |
HUWE1 | 300697 | X-linked (MRXS-Turner & MRX17) | Xp11.22 | Recessive | Missense, microduplication | (Froyen et al. 2008) |
IL1RAPL1 | 300206 | X-linked (MRX21) | Xp21.3–p21.2 | Recessive | Truncating, deletion | |
JARID1C (KDM5C) | 314690 | X-linked | Xp11.22 | Recessive | Truncating, missense | (Jensen et al. 2005) |
KIRREL3 | 607761 | Autosomal (MRD4) | 11q24.2 | Dominant | Missense | (Bhalla et al. 2008) |
MAGT1 | 300715 | X-linked (MRX95) | Xq21.1 | Dominant | Missense | (Molinari et al. 2008) |
MBD5 | 611472 | Autosomal (MRD1) | 2q23.1 | Dominant | Deletion, missense | (Wagenstaller et al. 2007) |
MECP2 | 300005 | X-linked (MRXS13) | Xq28 | Dominant | Truncating, missense, deletion | (Orrico et al. 2000) |
NLGN4 | 300427 | X-linked (AUTSX2) | Xp22.31–p22.32 | Recessive | Truncating | (Laumonnier et al. 2004) |
OPHN1 | 300127 | X-linked | Xq12 | Recessive | Truncating, deletion | |
PAK3 | 300142 | X-linked (MRX30) | Xq22.3 | Recessive | Truncating, missense, splice site | |
PQBP1 | 300463 | X-linked | Xp11.23 | Recessive | Missense | (Kalscheuer et al. 2003) |
PRSS12 | 606709 | Autosomal (MRT1) | 4q26 | Recessive | Truncating | (Molinari et al. 2002) |
PTCHD1 | X-linked | Recessive | Deletion | (Noor et al. in press) | ||
RPS6KA3 | 300075 | X-linked (MRX19) | Xp22.12 | Recessive | Missense | (Merienne et al. 1999) |
SHANK2 | 603290 | Autosomal | 11q13.3–13.4 | Dominant | CNV deletion, missense | (Berkel et al. 2010) |
SHROOM4 | 300579 | X-linked | Xp11.22 | Dominant | Translocation; missense | |
SLC6A8 | 300036 | X-linked | Xq28 | Dominantb | Truncating, missense | |
STXBP1 | 602926 | Autosomal | 9q34.11 | Dominant | Deletion, nonsense | |
SYNGAP1 | 603384 | Autosomal (MRD5) | 6p21.32 | Dominant | Truncating | |
SYP | 313475 | X-linked | Xp11.23 | Recessive | Truncating, missense | (Tarpey et al. 2009) |
TSPAN7 | 300096 | X-linked (MRX58) | Xp11.4 | Recessive | Truncating, missense | (Zemni et al. 2000) |
TRAPPC9 | 611966 | Autosomal (MRT13) | 8q24.3 | Recessive | Truncating | (Mir et al. 2009 |
TUSC3 | 601385 | Autosomal (MRT7) | 8p22 | Recessive | Truncating | |
UPF3B | 300298 | X-linked (MRXS14) | Xq24 | Recessive | Truncating | (Tarpey et al. 2007) |
ZNF41 | 314995 | X-linked (MRX89) | Xp11.3 | Variable | Missense, splice site | (Shoichet et al. 2003) |
ZNF674 | 300573 | X-linked (MRX92) | Xp11.3 | Recessive | Truncating | (Lugtenberg et al. 2006 |
ZNF711 | 314990 | X-linked | Xq21.1 | Recessive | Truncating | (Tarpey et al. 2009) |
ZNF81 | 314998 | X-linked (MRX45) | Xp11.23 | Recessive | Missense | (Kleefstra et al. 2004) |
Non-syndromic autosomal recessive intellectual disability (NS-ARID)
Synthesizing our knowledge: the search for common pathways
Gene Name | NS or Sa | Linked to Autism | Protein Product | Function | Subcellular localization (HPRD) | Protein Domains (SMART; HPRD; Bold-NCBI gene) |
---|---|---|---|---|---|---|
ACSL4 | NS | N | Acyl-CoA synthetase long-chain family member 4 | Fatty acid metabolism | Microsome; Mitochondia | 1 TM |
AFF2/FMR2 | NS | Y | Fragile X mental retardation 2 | DNA binding protein: Potential activator of transcription | Nucleus | AF4 homology |
AGTR2 | NS/S | N | Angiotensin II receptor, type 2 | G-protein-coupled receptor for Angiotensin II; mediator of programmed cell death | Plasma membrane | 7 TM |
AP1S2 | NS/S | N | Adaptor-related protein complex 1 sigma 2 subunit | Complex involved in clathrin recruitment and sorting signal recognition. Synaptic vesicles/neurotransmitter release | Golgi apparatus | Clat Adaptor S |
ARHGEF6 | NS | N | Rac/Cdc42 guanine nucleotide exchange factor 6 | GEF for Rac and Cdc42 | Cytoplasm | CH; SH3; RhoGEF; PH; CC |
ARX | NS/S | Y | Aristaless related homeobox | Transcriptional regulation during development | Nucleus | HOX; CC |
ATRX | NS/S | N | Transcriptional regulator ATRX | Chromatin remodeling | Nucleus | RING; CC; HELICc; DEXDc; SNF2_N |
BRWD3 | NS/S | N | Bromo domain and WD repeat domain-containing protein 3 | JAK/STAT signaling in drosophila; Putative Chromatin Modifier | Nucleus | 8x WD40; 2x BROMO |
CASK | NS/S | N | Calcium/calmodulin-dependent serine protein kinase | Kinase and scaffolding at synapses; MAGUK family protein | Synaptic junction, plasma membrane; Nucleus; Cytoplasm | S_TKc; 2x L27; PDZ; SH3; GuKc; |
CC2D1A | NS | N | Coiled-coil and C2 domain containing 1A | Transcriptional regulator of neurotransmitter receptors; NF-kB pathway activator | Nucleus; Cytoplasm | 2x CC; C2; 4x DM14; |
CDH15 | NS/S | N | Cadherin 15 | Ca2+ dependant intercellular adhesion protein | Plasma membrane | SP; 5x CA; 1x TM; Cadherin_C |
CRBN | NS | N | Cereblon | Expression of potassium channels | Plasma membrane; cytoplasm | LON |
DLG3 | NS | N | Synapse-associated protein 102 | Organization and scaffolding at post-synaptic density; MAGUK family protein | Synaptic junction, plasma membrane; endoplasmic reticulum; cytoplasm | 3x PDZ; SH3; GuKc |
DOCK8 | N | Dedicator of cytokinesis 8 | Potential guanine nucleotide exchange factor (GEF); putative organizer of filamentous actin | Plasma membrane; cytoplasm; nucleus | Ded_cyto; 2x CC; C2; DUF3398 | |
FGD1 | NS/S | N | Faciogenital dysplasia protein | GEF for Cdc42 | Cytoplasm; cytoskeleton | RhoGEF; 2x PH; FYVE; DH |
FTSJ1 | NS | N | FtsJ homolog 1 | Processing and modification of rRNA | Nucleolus | AdoMet_MTases |
GDI1 | NS | N | GDP dissociation inhibitor 1 | Inhibitor of Rab GTPases | Cytoplasm | NABD_Rossmann |
GRIK2 | NS | Y | Glutamate receptor, ionotropic,, kainate 2 | Subunit of synaptic glutamate receptor (KARs) | Plasma membrane-synapse | SP; 4x TM; Lig_chan; PBPe; ANF_receptor; Periplasmic_Binding_Protein_Type_1 |
HUWE1 | NS/S | N | HECT, UBA and WWE domain containing 1 | Ubiquitin E3 ligase; protein ubiquitination pathway | Nucleus; cytoplasm | DUF908; DUF913; UBA; WWE; UIM; HECTc; 2x CC |
IL1RAPL1 | NS | Y | Interleukin 1 receptor accessory protein-like 1 | Part of the interleukin 1 receptor family; neuronal calcium-regulated vesicle release and dendrite differentiation | Plasma membrane | SP; 2x IG; IGc2; 1x TM; TIR |
JARID1C/KDM5C | NS | Y | Jumonji, AT rich interactive domain 1C | Transcriptional regulation and chromatin remodeling | Nucleus | JmjN; BRIGHT; 2x PHD; JmjC; CC; Zf-C5HC2; PLU-1 |
KIRREL3 | NS/S | N | kin of IRRE like 3 | Unknown: Potentially involved in synaptogenesis | Plasma membrane; cytoplasm; extracellular | SP; 3x IG; IGc2; 1x TM |
MAGT1 | NS | N | Magnesium transporter 1 | Cellular Mg2+ uptake; oligosaccharide transferase; N-glycosylation | ER membrane | 5x TM; OST3_OST6; TRX_family |
MBD5 | NS/S | N | methyl-CpG binding domain protein 5 | Putative role in transcriptional regulation | Nucleus | PWWP; MBD |
MECP2 | NS/S | Y | Methyl CpG binding protein 2 | Methyl binding to control transcription | Nucleus | MBD; 2x AT Hook |
NLGN4X | NS | Y | X-linked neuroligin 4 | Synapse adhesion protein | Plasma membrane-synapse | SP; 2x TM; PnbA; esterase_lipase |
OPHN1 | NS/S | N | Oligophrenin 1 | Rho-GTPase activating protein | Cytoplasm | CC; PH; RhoGAP |
PAK3 | NS | N | p21-activated kinase 3 | Downstream effector of Rho-GTPases | Cytoplasm | PBD; S_TKc |
PQBP1 | NS/S | N | Polyglutamine binding protein 1 | Transcriptional activation | Nucleus; cytoplasm; nucleolus | WW |
PRSS12 | NS | N | Neurotrypsin | Synaptic protease, cleaves agrin; synaptic plasticity | Extracelluar | SP; KR; 4x SR; Tryp_SPc |
PTCHD1 | NS | Y | Patched domain 1 | Putative Hedgehog receptor | Plasma membrane | 12x TM; Ptc; MMPL |
RPS6KA3 | NS/S | N | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | Ras/Map/ERK signaling pathway | Cytoplasm | 2x S_TKc; S_TK_X |
SHANK2 | NS | Y | SH3 and multiple ankyrin repeat domains 2 | Scaffolding and cell adhesion protein; Synaptic plasticity | Dendrite; cytoplasm; post-synaptic density | 6x ANK; SH3; PDZ; SAM |
SHROOM4 | NS/S | N | Shroom family member 4 | Cytoskeletal architecture | Cytoplasm | PDZ; 3x CC; ASD2 |
SLC6A8 | NS | N | Solute carrier family 6 member 8 | Creatine transporter | Plasma membrane | 12x TM; SNF |
STXBP1 | NS | N | Syntaxin-binding protein 1 | Synaptic vesicle docking and fusion; neurotransmission | Plasma membrane-synapse; cytoplasm | SEC1 |
SYNGAP1 | NS | N | Synaptic Ras GTPase activating protein 1 | Part of the NMDA receptor complex; Negative regulation of Ras/Map/ERK pathway | Plasma membrane-synapse | PH; C2; RasGAP; CC; DUF3498 |
SYP | NS/S | N | Synaptophysin | Synaptic vesicle protein | Synapse/vesicle membrane | 4x TM; MARVEL |
TSPAN7 | NS/S | N | Tetraspanin 7 | Unknown: Transmembrane protein potentially involved in synapse maturation | Plasma membrane/synapse | Tetraspanin/4x TM |
TRAPPC9 | NS | N | NIK- and IKKB-binding protein | Neuronal NF-kB signalling, vesicular transport | Golgi; ER; Cytoplasm | Trs120 |
TUSC3 | NS | N | Tumor suppressor candidate 3 | Mg2+ uptake, oligosaccharide transferase; N-glycosylation | ER membrane | 5x TM; OST3_OST6 |
UPF3B | NS/S | Y | UPF3 regulator of nonsense transcripts homolog B | mRNA nuclear export and surveillance | Nucleus; Cytoplasm; Nucleolus | SMG4_UPF3; 2x CC; 5x NLS |
ZNF41 | NS | N | Zinc finger protein 41 | Putative repressor of transcription | Nucleus | KRAB; 17x ZnF_C2H2 |
ZNF674 | NS | N | Zinc finger protein 674 | Putative repressor of transcription | Nucleus | KRAB; 11x ZnF_C2H2; |
ZNF711 | NS | N | Zinc finger protein 711 | Unknown: Putative activator of transcription | Nucleus | Zfx_Zfy; 12x ZnF_C2H2; |
ZNF81 | NS | N | Zinc finger protein 81 | Putative repressor of transcription | Nucleus | KRAB; 12x ZnF_C2H2; |
Gene Name | Interacting proteins (IntAct; STRING; BioGRID; HPRD) |
---|---|
ACSL4 | SPG20 (EBI-2643801) |
AFF2/FMR2 | GRB2 (EBI-1964238); NCK1 (EBI-1968993); PLCG1 (EBI-1971165); MAPK14 (EBI-1959498) |
AGTR2 | AGT; AGTRAP; ACE; MTUS1; TIMP3 (EBI-1749967); GNAI2*; GNAI3*; ZBTB16; PIK3CB; ERBB3 |
AP1S2 | AP1G2 (EBI-516314); AP1G1 (EBI-516318); AP1S1 (EBI-1073310); GGA3 |
ARHGEF6 | GIT1; PKLR; BMPR1B; PAK1-3; ARHGEF7; SMAD1-3; TGFBR1; TGFBR2; PARVB; CAPNS1; CDC42; EPHB2; YWHAG; SH2D1A; ADAM15; |
ARX | None known |
ATRX | DAXX (EBI-371424); NEK1 (EBI-695931); PTN (EBI-731356); HDAC1; HDAC4; RAD51; ATN1; FAM190B (EBI-731347); EZH2; EIF4A2 (EBI-1069160); MECP2*; SMC1A; CBX5; PTPN4; H3F3A; H3F3B; KIAA1377; LUC7L2; KIAA1128 |
BRWD3 | UBXD7 (EBI-2009865) |
CASK | LIN7A; DLG1; TBR1 (EBI-1216781); KCNJ12 (EBI-704591); APBA1; PARK2; RPH3A (EBI-1216824); F11R; ATP2B4; SDC1-4; DLG4; TSPYL2; ID1 (EBI-1215556); KNCJ4 (EBI-706129); NPHS1; CNTNAP2; CNTNAP4; HGS; SPATA2; UIMC1 (EBI-2515432); LIN7C; EPB41 (EBI-1219323); C16ORF70; CD2AP; FCHSD2 (EBI-1215794); LIN7B; EPS8; GRIK2; RAB3A; CASK; KCNJ2 (EBI-706107); DLG1; CADM1; NRXN1-3; DFNB31; CASKIN1; TANC1; GRIN2A; KCNA4; GLS2; NF1; HTR2C; ARHGEF7; KIRREL3 (Bhalla et al. 2008) |
CC2D1A | CHMP4A; CHMP4C |
CDH15 | CTNNA1; CTNNB1; JUP; GNA12; BOC; ARVCF; CDON; CDH9; CDH7 |
CRBN | DDB1* (EBI-2559059); CSN6 (EBI-2510262); CUL4A |
DLG3 | GRIN2A; GRIN2B; EXOC4; KNCJ12 (EBI-704591); APC; PTK2B; DLG4; SYNGAP1; GDA; CRIPT; GRIN2C; SSCR2*; GUCY1A2; NLGN2; ATP2B4; NLGN1; GRIK2, DLGAP1; NLGN3; ATP2B2; GRIK5; SEMA4C; EXOC7; KRT85 (EBI-1085330); KRT34 (EBI-1077921); KRT35; KRT31 (EBI-1082542); ERBB4 (EBI-80454); CAMK2A (EBI-1068669); CUL2 (EBI-1081586); ANXA1 (EBI-1077519); S100A3 (EBI-1081429); EXOC3; HIST1H2BC; KLHDC3 (EBI-1081381); KRT82 (EBI-1084718); LRP2; CALM1; CNKSR2; KIF1B; MAPK12; KCNA4; SCN4A; ABCA1 (EBI-784253); LPHN1; DLG1; LIN7A; GRIN1; DLGAP4; CACNG2; SCN5A; GLS2; KCNJ2; DLGAP3; GRIK5; PAEP; SCN4A; IDUA (EBI-737171); INSM1 (EBI-737174); MORN2 (EBI-737180); PPP1R14A* (EBI-776423); DLGAP2* (EBI-389360); MDH1 (EBI-735148); SF3B3 (EBI-737189); LRFN2* (EBI-877173); PLK2 (EBI-735154); RBP5 (EBI-737168); TRIM41 (EBI-737192); HAP1 (EBI-732554); SCN2A (EBI-737186); RAB31 (EBI-737183); MCM2 (EBI-732557); B3GNT8 (EBI-737165); |
DOCK8 | CDC42; RAC1; RHOJ; RHOQ |
FGD1 | CDC42; ELMO1; ABP1; CTTN; RHOA; RHOG; RHOU; RHOC; RAC2; IFNB1 |
FTSJ1 | DMWD; FBL; NOP58; |
GDI1 | RAB1B; RAB6A; RAB3B; RAB9A; RAB27A; PSEN1; RHOH; CDC42; RAC2; RHOA; RABAC1; EPB41; SPOP |
GRIK2 | DLG4; SDCBP; PICK1; DLG1; GRIK5; GRIP1; GRIA1; GRIA2; GRID1; DLG3; CDH2; CTNNB1; CASK; GRIK2; GRIK4; CTNND1; PRKAA1; LIN7B; GRID2; GOLM1 (EBI-736856); GPAA1 (EBI-736877); LRSAM1 (EBI-737066); MLF1 (EBI-735133) |
HUWE1 | CDKN2A (EBI-625921); UBL4A (EBI-2515855); FAF2 (EBI-2009967); UBE2E3 (EBI-2339614); GIYD2 (EBI-2372444); P53 EBI-626140); VCPIP1 (EBI-2513235); USP7 (EBI-2513133); MYC (EBI-1237540); UBXN1 (EBI-2010040); CDC6; USP49 (EBI-2512828); USP50; SMAD2; CCL1; RNF11; SMAD9; MCL1; ATM |
IL1RAPL1 | NCS-1/FREQ; DLG4 (Pavlowsky et al. 2010); CFTR (EBI-1171098) |
JARID1C/KDM5C | HIST2H3A; SMAD3; RNF2, MAX, REST NCOR1, HDAC1, HDAC2, E2F6, RING1, CBX3; |
KIRREL3 | CASK (Bhalla et al. 2008) |
MAGT1 | None known |
MBD5 | None known |
MECP2 | SIN3A; LBR; HDAC1; PRPF40A; SPI1; PRPF40B; SKI; DNMT; CDKL5; RBPJ; YBX1; CBX5; SMARCA2; SMARCB1; ATRX*; RCOR1; GTF2B; SUV39H3; HIST2H3A; SIN3B; NCOR1; SMARCE1 |
NLGN4X | DLG4; DLGAP2 |
OPHN1 | RHOA; RAC1; CDC42 |
PAK3 | RAC1; RAF1; ARHGEF6; ARHGEF7; SYN1; PXN; MYO6; GIT2; NCK1; CDC42 |
PQBP1 | POU3F2; POLR2A; EEF1A1 (EBI-730579) ATXN1; MED31 (EBI-730576); SF3A2; TXNL4A; WBP11 (EBI-956742); RIF1 (EBI-732938); C14ORF1 (EBI-735456); RAB8A (EBI-737426); C1ORF103 |
PRSS12 | None known |
PTCHD1 | None known |
RPS6KA3 | MAPT; MAPK1; MAPK3; PLD1; BAD; HIST3H3; CREB1; FGF2; NR4A1; SYT3; KRT18; CREBBP; MAPK14; PEA15; IGF1; PDPK1; GSTK1 (EBI-1079890); CSNK2B (EBI-1371784) |
SHANK2 | DLGAP1-4; DNM2; ARHGEF7; CTTN; SSTR2*; DLG4; DYNLL1; DYNLL2; MYO5A; LPHN1; LPHN2; BAI2; SLC9A3; BAIAP2; NCK1 (EBI-1968244); PLCG1 (EBI-1971189); PIK3R1 (EBI-1969713); PPP1R14A* (EBI-776423); SRC (EBI-1960646); GRB2 (EBI-1963670); GRIN2B* (EBI-770442); GRIN1 (EBI-396959); HOMER/Ves1 (Hayashi et al. 2009); CRK (EBI-1959944) |
SHROOM4 | MYO6; MYO1A; MYO1C; MYO9B; CORO1A; CD2AP |
SLC6A8 | CD59 |
STXBP1 | STX1A; STX1B; STX2-4; STX5* SYTL4; STX1B2; SNAP25; ABPA1/Mint1; APBA2*; DLG4*; TUBB2A; TUBA4A; MAPT; HGS; DOC2A; PLD1; CDK5R1; NEFH; CDK5; USO1; PRKCA; PRKCB1; PRKCG |
SYNGAP1 | ULK1; DLG4; DLG3; ULK2; CAMK2A; MPDZ; DLG3; DLG4; GRIN2A; GRIN2B; GRIN1; TRIP6; PDGFRB; KDR |
SYP | GRB2; VAMP2; SIAH1; SIAH2; AP1G1; STX1A; EPOR |
TSPAN7 | KPTN; FYTTD1 |
TRAPPC9 | TRAPP complex; IKBKB; MAP3K14 |
TUSC3 | PPP1CA |
UPF3B | UPF1 (EBI-536644); UPF2 (EBI-374193); RBM8A; NCBP1 (EBI-1776148); HBB; USP21 (EBI-2512177); EIF6; EIF4A3 (EBI-464796); UPF3A; TTC19 (EBI-374205); MCRS1 (EBI-374202); EIF4G1 (EBI-464801); ITGB3BP (EBI-732256) |
ZNF41 | SMAD2 |
ZNF674 | None known |
ZNF711 | PHF8 (Kleine-Kohlbrecher et al. 2010) |
ZNF81 | None known |