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Human Gene Search Results

Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN749 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 Rare single gene variant
2
 Yes 8 3 Lim ET , et al. 2013 Edit
GEN988 ABCA13 ATP binding cassette subfamily A member 13 7p12.3 Rare single gene variant
3
 30 11 Neale BM , et al. 2012 Edit
GEN822 ACE angiotensin I converting enzyme 17q23.3 Rare single gene variant
2
 9 5 Firouzabadi N et al. 2016 Edit
GEN771 ACHE Acetylcholinesterase (Yt blood group) 7q22.1 Rare single gene variant
3
 6 7 Sanders SJ , et al. 2015 Edit
GEN1133 ACTB actin beta 7p22.1 Syndromic
3
 37 10 De Rubeis S , et al. 2014 Edit
GEN1087 ACTL6B actin like 6B 7q22.1 Rare single gene variant
2
 Yes 43 14 Bell S , et al. 2019 Edit
GEN253 AGMO alkylglycerol monooxygenase 7p21.2 Genetic Association
2
 14 8 Sebat J , et al. 2007 Edit
GEN761 AKAP9 A kinase (PRKA) anchor protein 9 7q21.2 Rare single gene variant
3
 17 8 Sanders SJ , et al. 2015 Edit
GEN022 AUTS2 activator of transcription and developmental regulatorAUTS2 7q11.22 Rare Single Gene variant
4
 118 64 Sultana R , et al. 2002 Edit
GEN924 AZGP1 alpha-2-glycoprotein 1, zinc-binding 7q22.1 Rare single gene variant
2
 5 4 Lim ET , et al. 2017 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
2
 11 15 Toma C , et al. 2010 Edit
GEN1318 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 7q21.3-q22.1 Rare single gene variant
3
 9 6 Iossifov I et al. 2014 Edit
GEN595 BRAF v-raf murine sarcoma viral oncogene homolog B 7q34 Syndromic
3
 52 18 Alfieri P , et al. 2014 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
3
 50 27 Strom SP , et al. 2009 Edit
GEN1031 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 7q21.11 Rare single gene variant
2
 11 8 Iossifov I et al. 2014 Edit
GEN1200 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 17q12 Rare single gene variant
2
 10 3 Trost B et al. 2020 Edit
GEN037 CADPS2 Ca2+-dependent activator protein for secretion 2 7q31.32 Rare Single Gene variant
2
 24 13 Cisternas FA , et al. 2003 Edit
GEN985 CAMK2B calcium/calmodulin dependent protein kinase II beta 7p13 Syndromic
2
 20 11 Kry S , et al. 2017 Edit
GEN1373 CAMTA2 calmodulin binding transcription activator 2 17p13.2 Syndromic
2
 3 3 Zhou X et al. 2022 Edit
GEN928 CARD11 caspase recruitment domain family member 11 7p22.2 Rare single gene variant
2
 4 2 Lim ET , et al. 2017 Edit
GEN1396 CBX1 chromobox 1 17q21.32 Rare single gene variant
3
 6 3 Kuroda Y et al. 2023 Edit
GEN982 CDK13 cyclin dependent kinase 13 7p14.1 Rare single gene variant
4
 101 21 Hamilton MJ , et al. 2017 Edit
GEN257 CEP41 testis specific, 14 7q32.2 Rare Single Gene variant
3
 14 6 Korvatska O , et al. 2011 Edit
GEN1048 CHD3 chromodomain helicase DNA binding protein 3 17p13.1 Rare single gene variant
4
 112 17 Iossifov I et al. 2014 Edit
GEN1195 CLIP2 CAP-Gly domain containing linker protein 2 7q11.23 Genetic association
2 1 Yousaf A et al. 2020 Edit
GEN051 CNTNAP2 contactin associated protein-like 2 7q35-q36.1 Syndromic
4
 174 98 Arking DE , et al. 2008 Edit
GEN964 COL28A1 collagen type XXVIII alpha 1 chain 7p21.3 Rare single gene variant
3
 44 5 Krumm N , et al. 2015 Edit
GEN844 CRHR2 corticotropin releasing hormone receptor 2 7p14.3 Functional
2
 2 5 Shemesh Y , et al. 2016 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
2
 5 4 Pinto D , et al. 2010 Edit
GEN054 CTTNBP2 cortactin binding protein 2 7q31.31 Rare Single Gene variant
3
 45 15 Cheung J , et al. 2001 Edit
GEN847 CUX1 cut like homeobox 1 7q22.1 Functional
3
 Yes 46 14 Doan RN , et al. 2016 Edit
GEN378 DDC dopa decarboxylase 7p12.2-p12.1 Genetic association
2
 6 7 Toma C , et al. 2012 Edit
GEN1389 DGKI diacylglycerol kinase iota 7q33 Genetic association
2
 3 4 Ruzzo EK , et al. 2019 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
5
 84 25 Feyder M , et al. 2010 Edit
GEN1063 DLX3 distal-less homeobox 3 17q21.33 Rare single gene variant
2
 7 4 Iossifov I et al. 2014 Edit
GEN069 DLX6 distal-less homeobox 6 7q21.3 Rare Single Gene variant
2
 4 10 Nakashima N , et al. 2009 Edit
GEN937 DNAH17 dynein axonemal heavy chain 17 17q25.3 Rare single gene variant
3
 20 9 De Rubeis S , et al. 2014 Edit
GEN603 DOCK4 Dedicator of cytokinesis 4 7q31.1 Genetic association/multigenic CNV
2
 13 11 Maestrini E , et al. 2009 Edit
GEN073 DPP6 dipeptidyl-peptidase 6 7q36.2 Genetic Association
3
 28 28 Marshall CR , et al. 2008 Edit
GEN1425 EIF5A eukaryotic translation initiation factor 5A 17p13.1 Rare single gene variant
2
 10 4 et al. Edit
GEN078 EN2 engrailed homolog 2 7q36.3 Genetic Association
2
 12 26 Gharani N , et al. 2004 Edit
GEN1321 EPHA1 EPH receptor A1 7q34-q35 Rare single gene variant
3
 11 8 Iossifov I et al. 2014 Edit
GEN080 EPHB6 EPH receptor B6 7q34 Rare Single Gene variant
2
 3 7 O'Roak BJ , et al. 2011 Edit
GEN1410 FBXL13 F-box and leucine rich repeat protein 13 7q22.1 Rare single gene variant
2
 6 2 Cirnigliaro M et al. 2023 Edit
GEN1271 FLNC filamin C 7q32.1 Rare single gene variant
3
 8 3 Wilfert AB et al. 2021 Edit
GEN096 FOXP2 forkhead box P2 7q31.1 Rare single gene variant
3
 95 56 Gong X , et al. 2004 Edit
GEN1158 GFAP glial fibrillary acidic protein 17q21.31 Rare single gene variant
2
 3 1 Satterstrom FK et al. 2020 Edit
GEN997 GGNBP2 gametogenetin binding protein 2 17q12 Rare single gene variant
3
 4 3 De Rubeis S , et al. 2014 Edit
GEN646 GIGYF1 GRB10 interacting GYF protein 1 7q22.1 Rare single gene variant
4
 98 20 Iossifov I et al. 2014 Edit
GEN1154 GNAI1 G protein subunit alpha i1 7q21.11 Rare single gene variant
3
 31 6 De Rubeis S , et al. 2014 Edit
GEN1286 GNB2 G protein subunit beta 2 7q22.1 Rare single gene variant
2
 18 6 Tan NB et al. 2021 Edit
GEN489 GPR37 G protein-coupled receptor 37 7q31.33 Rare single gene variant
3
 12 3 Fujita-Jimbo E , et al. 2012 Edit
GEN709 GPR85 G protein-coupled receptor 85 7q31.1 Genetic association, functional
2
 5 5 Fujita-Jimbo E , et al. 2015 Edit
GEN1344 GRB10 growth factor receptor bound protein 10 7p12.1 Functional
3
 24 12 Kim IB et al. 2022 Edit
GEN683 GRID2IP Grid2 interacting protein 7p22.1 Rare single gene variant
2
 7 5 Li J , et al. 2015 Edit
GEN113 GRM8 glutamate receptor, metabotropic 8 7q31.33 Genetic Association
2
 14 11 Serajee FJ , et al. 2003 Edit
GEN116 GTF2I general transcription factor IIi 7q11.23 Rare Single Gene variant
2
 5 11 Malenfant P , et al. 2011 Edit
GEN1280 HDAC9 histone deacetylase 9 7p21.1 Rare single gene variant
3
 8 6 Wilfert AB et al. 2021 Edit
GEN122 HOXA1 homeobox A1 7p15.2 Genetic Association
3
 22 16 Ingram JL , et al. 2000 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
0
 1 9 Ingram JL , et al. 2000 Edit
GEN296 ICA1 islet cell autoantigen 1 7p21.3 Rare single gene variant
2
 15 10 Salyakina D , et al. 2011 Edit
GEN1345 IKZF1 IKAROS family zinc finger 1 7p12.2 Rare single gene variant
3
 9 6 De Rubeis S , et al. 2014 Edit
GEN804 IL6 interleukin 6 7p15.3 Functional
0 6 Smith SE , et al. 2007 Edit
GEN134 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 7q31.1 Rare single gene variant
2
 31 17 Petek E , et al. 2001 Edit
GEN1056 INTS1 integrator complex subunit 1 7p22.3 Syndromic
3
 Yes 28 10 Krall M , et al. 2019 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
2
 16 22 Weiss LA , et al. 2006 Edit
GEN1136 KANSL1 KAT8 regulatory NSL complex subunit 1 17q21.31 Rare single gene variant
3
 32 13 Koolen DA , et al. 2015 Edit
GEN433 KCND2 potassium voltage-gated channel subfamily D member 2 7q31.31 Rare single gene variant
3
 19 9 Connolly JJ , et al. 2012 Edit
GEN686 KCNJ12 potassium voltage-gated channel subfamily J member 12 17p11.2 Rare single gene variant
0
 4 2 Li J , et al. 2015 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
3
 4 4 Ambrosini E , et al. 2014 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
5
 132 22 Iossifov I , et al. 2012 Edit
GEN659 KMT2C Lysine (K)-specific methyltransferase 2C 7q36.1 Rare single gene variant
5
 95 36 O'Roak BJ , et al. 2012 Edit
GEN636 KMT2E Lysine (K)-specific methyltransferase 2E 7q22.3 Rare single gene variant
4
 94 20 Dong S , et al. 2014 Edit
GEN956 KRT26 keratin 26 17q21.2 Rare single gene variant
3
 40 4 Krumm N , et al. 2015 Edit
GEN143 LAMB1 laminin, beta 1 7q31.1 Genetic Association
3
 21 11 Hutcheson HB , et al. 2004 Edit
GEN496 LEP Leptin 7q32.1 Rare single gene variant
2 1 Prasad A , et al. 2013 Edit
GEN1020 LRRC4 leucine rich repeat containing 4 7q32.1 Rare single gene variant
3
 6 5 Jiang YH , et al. 2013 Edit
GEN1239 MAPT microtubule associated protein tau 17q21.31 Genetic association
2
 2 4 Grove J , et al. 2019 Edit
GEN1206 MAPT-AS1 MAPT antisense RNA 1 17q21.31 Genetic association
1 1 Matoba N et al. 2020 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
4
 39 14 Iossifov I et al. 2014 Edit
GEN160 MET met proto-oncogene (hepatocyte growth factor receptor) 7q31.2 Genetic Association
2
 28 42 Campbell DB , et al. 2006 Edit
GEN1328 MINK1 misshapen like kinase 1 17p13.2 Rare single gene variant
3
 17 8 Iossifov I et al. 2014 Edit
GEN780 MNT MAX network transcriptional repressor 17p13.3 Genetic association
2 1 Kuo PH , et al. 2015 Edit
GEN934 MUC12 mucin 12, cell surface associated 7q22.1 Rare single gene variant
2
 12 4 De Rubeis S , et al. 2014 Edit
GEN1036 MYH10 myosin heavy chain 10 17p13.1 Rare single gene variant
3
 12 8 Willsey AJ , et al. 2013 Edit
GEN502 MYH4 Myosin, heavy chain 4, skeletal muscle 17p13.1 Rare single gene variant
2
 10 7 Prasad A , et al. 2013 Edit
GEN1202 MYOCD myocardin 17p12 Rare single gene variant
2
 8 3 Trost B et al. 2020 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
4
 60 12 Iossifov I , et al. 2012 Edit
GEN168 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa 7q31.32 Genetic Association
2 3 Marui T , et al. 2010 Edit
GEN1256 NEUROD2 neuronal differentiation 2 17q12 Rare single gene variant
4
 10 4 Sega AG et al. 2019 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
5
 48 39 Marui T , et al. 2004 Edit
GEN1059 NFE2L3 nuclear factor, erythroid 2 like 3 7p15.2 Rare single gene variant
3
 5 6 Iossifov I et al. 2014 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
3
 7 13 Whr M , et al. 2012 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
2
 8 10 Kim HW , et al. 2008 Edit
GEN898 NR1D1 nuclear receptor subfamily 1 group D member 1 17q21.1 Rare single gene variant
2
 8 4 Yang Z , et al. 2015 Edit
GEN177 NRCAM neuronal cell adhesion molecule 7q31.1 Genetic Association
2
 9 6 Marui T , et al. 2008 Edit
GEN297 NXPH1 neurexophilin 1 7p21.3 Rare Single Gene variant
2
 10 6 Salyakina D , et al. 2011 Edit
GEN907 ODAD4 outer dynein arm docking complex subunit 4 17q21.2 Genetic association
9 1 Vojinovic D , et al. 2017 Edit
GEN768 P2RX5 Purinergic receptor P2X, ligand gated ion channel, 5 17p13.2 Rare single gene variant
2
 4 5 Sanders SJ , et al. 2015 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
0
 10 9 Sudarov A , et al. 2013 Edit
GEN692 PALS2 protein associated with LIN7 2, MAGUK family member 7p15.3 Rare single gene variant
2
 5 4 Li J , et al. 2015 Edit
GEN1393 PCLO piccolo presynaptic cytomatrix protein 7q21.11 Genetic association
3
 15 11 Liu D et al. 2023 Edit
GEN309 PDE1C phosphodiesterase 1C 7p14.3 Rare Single Gene variant
2
 3 3 Vaags AK , et al. 2012 Edit
GEN1068 PDK2 pyruvate dehydrogenase kinase 2 17q21.33 Rare single gene variant
2
 4 6 Iossifov I et al. 2014 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
2
 12 9 Nicholas B , et al. 2007 Edit
GEN910 PHB1 prohibitin 1 17q21.33 Genetic association
1 1 Cantor RM , et al. 2017 Edit
GEN1151 PHF12 PHD finger protein 12 17q11.2 Rare single gene variant
4
 25 5 Satterstrom FK et al. 2020 Edit
GEN1298 PHF14 PHD finger protein 14 7p21.3 Rare single gene variant
3
 20 6 Feliciano P et al. 2019 Edit
GEN194 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide 7q22.3 Genetic Association
2
 2 5 Serajee FJ , et al. 2003 Edit
GEN1411 PLEKHA8 pleckstrin homology domain containing A8 7p14.3 Rare single gene variant
2
 3 2 Cirnigliaro M et al. 2023 Edit
GEN497 PLXNA4 Plexin A4 7q32.3 Functional
2
 5 6 Prasad A , et al. 2013 Edit
GEN1312 POLR2A RNA polymerase II subunit A 17p13.1 Rare single gene variant
3
 39 11 Neale BM , et al. 2012 Edit
GEN199 PON1 paraoxonase 1 7q21.3 Genetic Association
2 5 D'Amelio M , et al. 2005 Edit
GEN495 POT1 Protection of telomeres 1 homolog (S. pombe) 7q31.33 Rare single gene variant
2
 4 3 Prasad A , et al. 2013 Edit
GEN901 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17q23.2 Rare single gene variant
2
 64 10 Sanders SJ , et al. 2012 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
2
 4 2 Hettinger JA , et al. 2012 Edit
GEN1165 PPP1R9B protein phosphatase 1 regulatory subunit 9B 17q21.33 Rare single gene variant
2
 8 4 Satterstrom FK et al. 2020 Edit
GEN1102 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta 7p22.3 Rare single gene variant
4
 20 7 De Rubeis S , et al. 2014 Edit
GEN1072 PRKCA protein kinase C alpha 17q24.2 Rare single gene variant
2
 7 7 De Rubeis S , et al. 2014 Edit
GEN1337 PRPF8 pre-mRNA processing factor 8 17p13.3 Rare single gene variant
3
 25 9 Iossifov I et al. 2014 Edit
GEN1372 PSMD11 proteasome 26S subunit, non-ATPase 11 17q11.2 Rare single gene variant
2
 4 2 Zhou X et al. 2022 Edit
GEN867 PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 Syndromic
3
 16 5 Kry S , et al. 2017 Edit
GEN511 RAB19 RAB19, member RAS oncogene family 7q34 Rare single gene variant
2
 3 3 Schluth-Bolard C , et al. 2013 Edit
GEN984 RAC1 Rac family small GTPase 1 7p22.1 Functional
2
 18 10 Duffney LJ , et al. 2015 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
4
 32 36 Nakamine A , et al. 2007 Edit
GEN1075 RALA RAS like proto-oncogene A 7p14.1 Rare single gene variant
3
 15 6 Hiatt SM , et al. 2018 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
0 1 Lacaria M , et al. 2013 Edit
GEN213 RELN Reelin 7q22.1 Genetic Association
4
 239 65 Persico AM , et al. 2001 Edit
GEN983 RHEB Ras homolog, mTORC1 binding 7q36.1 Syndromic
0
 3 3 Reijnders MRF , et al. 2017 Edit
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
0
 11 5 Tastet J , et al. 2015 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
2
 2 1 Lim ET , et al. 2017 Edit
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
2
 7 6 Iossifov I et al. 2014 Edit
GEN459 SDK1 sidekick cell adhesion molecule 1 7p22.2 Genetic association
3
 18 10 Connolly JJ , et al. 2012 Edit
GEN372 SERPINE1 serpin family E member 1 7q22.1 Genetic association
1 2 Campbell DB , et al. 2009 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
0
 8 8 Rumsey RK , et al. 2014 Edit
GEN1085 SLC13A4 solute carrier family 13 member 4 7q33 Functional
2
 4 3 Zhang Z , et al. 2019 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
2
 5 3 Pinto D , et al. 2010 Edit
GEN952 SLC25A39 solute carrier family 25 member 39 17q21.31 Rare single gene variant
2
 12 3 Iossifov I , et al. 2012 Edit
GEN622 SLC29A4 solute carrier family 29 member 4 7p22.1 Rare single gene variant
2
 5 2 Adamsen D , et al. 2014 Edit
GEN908 SLC35B1 solute carrier family 35 member B1 17q21.33 Genetic association
2 1 Cantor RM , et al. 2017 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
2
 5 3 Celestino-Soper PB , et al. 2011 Edit
GEN402 SLC39A11 solute carrier family 39 member 11 17q24.3-q25.1 Genetic association
2
 2 2 Anney R , et al. 2012 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
2
 51 31 Cook EH Jr , et al. 1997 Edit
GEN1413 SLFN5 schlafen family member 5 17q12 Rare single gene variant
2
 9 4 Cirnigliaro M et al. 2023 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
3
 9 4 Nguyen LS , et al. 2013 Edit
GEN1103 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 7q22.1 Rare single gene variant
2
 2 2 De Rubeis S , et al. 2014 Edit
GEN239 SND1 staphylococcal nuclease and tudor domain containing 1 7q32.1 Genetic Association
2
 4 10 Holt R , et al. 2010 Edit
GEN1395 SRSF1 serine and arginine rich splicing factor 1 17q22 Rare single gene variant
2
 19 4 Bogaert E et al. 2023 Edit
GEN740 SSPOP SCO-spondin, pseudogene 7q36.1 Rare single gene variant
2
 13 7 Krumm N , et al. 2015 Edit
GEN240 ST7 suppression of tumorigenicity 7 7q31.2 Rare Single Gene variant
2
 5 4 Vincent JB , et al. 2000 Edit
GEN600 STX1A Syntaxin 1A (brain) 7q11.23 Genetic association
2
 15 7 Nakamura K , et al. 2008 Edit
GEN893 TAF6 TATA-box binding protein associated factor 6 7q22.1 Rare single gene variant
3
 12 7 Iossifov I et al. 2014 Edit
GEN878 TANC2 etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17q23.2-q23.3 Rare single gene variant
4
 42 16 Iossifov I et al. 2014 Edit
GEN1140 TAOK1 TAO kinase 1 17q11.2 Rare single gene variant
4
 55 13 De Rubeis S , et al. 2014 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
2
 3 5 Pilhatsch M , et al. 2010 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
4
 65 22 O'Roak BJ , et al. 2011 Edit
GEN1355 TNPO3 transportin 3 7q32.1 Rare single gene variant
3
 10 8 Zhou X et al. 2022 Edit
GEN1299 TNRC6C trinucleotide repeat containing adaptor 6C 17q25.3 Rare single gene variant
3
 16 6 Iossifov I et al. 2014 Edit
GEN1069 TRRAP transformation/transcription domain associated protein 7q22.1 Rare single gene variant
4
 61 14 Iossifov I et al. 2014 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
2
 15 7 Bucan M , et al. 2009 Edit
GEN261 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) 7q32.2 Genetic Association
2 2 Vourc'h P , et al. 2003 Edit
GEN478 UBE3C Ubiquitin protein ligase E3C 7q36.3 Rare Single Gene variant
2
 7 6 O'Roak BJ , et al. 2012 Edit
GEN887 UBN2 ubinuclein 2 7q34 Rare single gene variant
3
 25 5 Iossifov I et al. 2014 Edit
GEN1082 VAMP2 vesicle associated membrane protein 2 17p13.1 Rare single gene variant
2
 8 4 Salpietro V , et al. 2019 Edit
GEN1157 VEZF1 vascular endothelial zinc finger 1 17q22 Rare single gene variant
2
 2 3 De Rubeis S , et al. 2014 Edit
GEN265 WNT2 wingless-type MMTV integration site family member 2 7q31.2 Genetic Association
0
 15 11 Wassink TH , et al. 2001 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
3 5 Prasad A , et al. 2013 Edit
GEN1146 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma 7q11.23 Syndromic
2
 19 13 De Rubeis S , et al. 2014 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
2
 Yes 7 2 Chahrour MH , et al. 2012 Edit
GEN634 ZNF713 Zinc finger protein 713 7p11.2 Rare single gene variant
2
 4 3 Metsu S , et al. 2014 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
17
Deletion-Duplication
 63
  construct
 
17
Deletion-Duplication
 4
 
 
17
Deletion-Duplication
 36
 
 
17
Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 29
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 51
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 3
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 27
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 74
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Duplication
 49
 
 
17
Deletion
 5
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 8
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 20
 
 
17
Deletion
 1
 
 
17
Deletion
 8
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 11
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion
 13
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 24
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 29
 
 
7
Duplication
 16
 
 
7
Deletion-Duplication
 1
 
 
7
Duplication
 3
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 15
 
 
7
Duplication
 1
 
 
7
Deletion
 9
 
 
7
Deletion-Duplication
 22
 
 
7
Deletion-Duplication
 2
 
 
7
Deletion-Duplication
 20
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 13
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 28
 
 
7
Duplication
 1
 
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 30
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 22
 
 
7
Duplication
 4
 
 
7
Deletion-Duplication
 20
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 7
 
 
7
Deletion-Duplication
 19
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 5
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 3
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 40
 
 
7
Duplication
 9
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 78
  construct
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 24
 
 
7
Duplication
 3
 
 
7
Deletion
 2
 
 
7
Deletion
 7
 
 
7
Deletion-Duplication
 16
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 28
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 13
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 45
 
 
7
Deletion
 2
 
 
7
Deletion
 3
 
 
7
Deletion
 3
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 10
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 10
 
 
7
Deletion-Duplication
 19
 
 
7
Duplication
 4
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 7
 
 
7
Duplication
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 17
 
 
7
Deletion
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 20
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 4
 
 
7
Deletion-Duplication
 49
 
 
7
Deletion-Duplication
 5
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 31
 
 
7
Duplication
 9
 
 
7
Deletion
 7
 
 
7
Deletion-Duplication
 27
 
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 30
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  CG1718
 CG1718
 Drosophila melanogaster
 
 1
 3
 
  Actl6b
 actin-like 6B [Mus musculus
 Mus musculus
 NA
 1
 3
 
  auts2a
 autism susceptibility candidate 2a
 Danio rerio
 
 2
 9
 
  Auts2
 Autism susceptibility candidate 2
 Mus musculus
 
 4
 21
 
  Baiap2
 brain-specific angiogenesis inhibitor 1-associated protein 2
 Mus musculus
 Unknown
 3
 7
 
 Calcium channel, voltage dependent, T type, alpha 1G subunit
 Mus musculus
 Unknown
 5
 7
 
  Cadps2
 Ca2+-dependent activator protein for secretion 2
 Mus musculus
 Yes
 5
 5
 
 contactin associated protein like 2a
 Danio rerio
 
 2
 15
 
  Nrx-IV
 Neurexin IV
 Drosophila melanogaster
 
 1
 8
 
 contactin associated protein-like 2
 Mus musculus
 Unknown
 21
 53
 
 contactin associated protein-like 2
 Rattus norvegicus
 Unknown
 2
 1
 
  Crhr2
 Corticotropin releasing hormone receptor 2
 Mus musculus
 
 1
 2
 
  Csnk1d
 casein kinase 1, delta
 Mus musculus
 
 1
 3
 
 cortactin binding protein 2 
 Mus musculus
 
 2
 19
 
  Dlg4
 discs, large homolog 4 (Drosophila)
 Mus musculus
 Unknown
 4
 4
 
  Dock4
 dedicator of cytokinesis 4
 Mus musculus
 
 1
 1
 
  Dpp6
 dipeptidyl peptidase 6
 Mus musculus
 
 1
 1
 
  En2
 Engrailed 2
 Mus musculus
 Unknown
 6
 5
 
  FoxP
 Forkhead box P
 Drosophila melanogaster
 
 2
 14
 
  Foxp2
 forkhead box P2
 Mus musculus
 Unknown
 5
 8
 
  Gigyf1
 GRB10 interacting GYF protein 1
 Mus musculus
 
 2
 6
 
  Grm8
 glutamate receptor, metabotropic 8
 Mus musculus
 Unknown
 1
 1
 
  Gtf2i
 general transcription factor II I
 Mus musculus
 Unknown
 2
 5
 
  Hoxa1
 Homeobox A1
 Mus musculus
 Unknown
 2
 3
 
  Immp2l
 IMP2 inner mitochondrial membrane peptidase-like
 Mus musculus
 Unknown
 1
 2
 
  Itgb3
 integrin beta 3
 Mus musculus
 Unknown
 2
 2
 
  Irk1
 Inwardly rectifying potassium channel 2
 Drosophila melanogaster
 
 1
 4
 
  Kdm6b
 KDM1 lysine (K)-specific demethylase 6B
 Mus musculus
 
 1
 3
 
  trr
 trithorax-related
 Drosophila melanogaster
 
 1
 1
 
  Kmt2c
 lysine (K)-specific methyltransferase 2C
 Mus musculus
 
 1
 1
 
  Kmt2e
 Lysine (K)-specific methyltransferase 2E
 Mus musculus
 
 1
 1
 
  Lrrc4
 leucine rich repeat containing 4
 Mus musculus
 
 1
 4
 
  met
 MET proto-oncogene, receptor tyrosine kinase
 Danio rerio
 
 1
 1
 
  Met
 met proto-oncogene
 Mus musculus
 Unknown
 7
 10
 
  Smr
 Smrter
 Drosophila melanogaster
 
 1
 1
 
 neurogenic differentiation 2
 Mus musculus
 NA
 1
 3
 
  Nf1
 Neurofibromin 1
 Drosophila melanogaster
 
 1
 21
 
  Nf1
 neurofibramatosis 1
 Mus musculus
 Unknown
 6
 10
 
  Nlg2
 Neuroligin 2
 Drosophila melanogaster
 
 1
 1
 
  Nlgn2
 neuroligin 2
 Mus musculus
 
 3
 9
 
  Nlgn2
 neuroligin 2
 Rattus norvegicus
 
 1
 1
 
  Nos2
 Nitric oxide synthase 2, inducible
 Mus musculus
 Unknown
 3
 1
 
  Nrcam
 neuron-glia-CAM-related cell adhesion molecule
 Mus musculus
 Unknown
 1
 1
 
 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
 Mus musculus
 
 1
 2
 
  Pclo
 piccolo (presynaptic cytomatrix protein)
 Mus musculus
 
 1
 2
 
  Per1
 Period homolog 1
 Mus musculus
 Unknown
 1
 1
 
  Rai1
 retinoic acid induced 1
 Mus musculus
 Unknown
 3
 12
 
  Rasd1
 RAS, dexamethasone induced 1
 Mus musculus
 
 1
 2
 
  Reln
 Reelin
 Mus musculus
 Unknown
 9
 9
 
  rheb
 Ras homolog, mTORC1 binding
 Danio rerio
 
 1
 6
 
  Rheb
 Ras homolog enriched in brain
 Drosophila melanogaster
 
 1
 2
 
  Rheb
 Ras homolog enriched in brain
 Mus musculus
 
 1
 3
 
  Sgsh
 N-sulfoglucosamine sulfohydrolase (sulfamidase) 
 Mus musculus
 NA
 1
 5
 
  Slc6a4
 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
 Mus musculus
 Unknown
 7
 14
 
  Slc6a4
 solute carrier family 6 member 4
 Rattus norvegicus
 
 2
 3
 
  Thra
 thyroid hormone receptor alpha
 Mus musculus
 Unknown
 1
 1

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
Autism susceptibility gene 2 protein
143
BAI1-associated protein 2
22
Serine/threonine-protein kinase B-raf
21
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
Ca++-dependent secretion activator 2
18
contactin associated protein-like 2
44
casein kinase 1, delta
55
cortactin binding protein 2
27
DLG4discs, large homolog 4 (Drosophila)
127
distal-less homeobox 6
2
dedicator of cytokinesis 4
9
dipeptidyl-peptidase 6
6
EN2
engrailed homeobox 2
10
forkhead box P2
307
GRB10 interacting GYF protein 1
12
G protein-coupled receptor 37 (endothelin receptor type B-like)
34
general transcription factor IIi
102
homeobox A1
338
homeobox B1
1
islet cell autoantigen 1, 69kDa
14
Mitochondrial inner membrane protease subunit 2
3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
potassium voltage-gated channel, Shal-related subfamily, member 2
23
Lysine-specific demethylase 6B
14
lysine methyltransferase 2C
2
lysine (K)-specific methyltransferase 2E
32
laminin, beta 1
18
LEP
Beta-secretase 1
1
MET
met proto-oncogene (hepatocyte growth factor receptor)
142
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
17
NF1
neurofibromin 1
40
neuroligin 2
18
nitric oxide synthase 2, inducible
41
neuronal cell adhesion molecule
6
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
14
period homolog 1 (Drosophila)
46
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
2
plexin A4
7
paraoxonase 1
10
protein phosphatase 1, regulatory (inhibitor) subunit 1B
19
retinoic acid induced 1
15
reelin
12
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
3
solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
8
solute carrier family 38, member 10
8
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
7
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
10
staphylococcal nuclease and tudor domain containing 1
26
ST7
suppression of tumorigenicity 7
25
syntaxin 1A (brain)
28
thyroid hormone receptor, alpha
10
tousled-like kinase 2
11
ubiquitin-conjugating enzyme E2H
19
ubiquitin protein ligase E3C
6
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
34
zinc finger protein 18
10
alkylglycerol monooxygenase
0
centrosomal protein 41kDa
0
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