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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
GEN573 ACY1 aminoacylase 1 3p21.2 Syndromic
2
 Yes 16 12 Tylki-Szymanska A , et al. 2010 Edit
GEN470 ADCY5 Adenylate cyclase 5 3q21.1 Rare Single Gene variant
3
 16 10 O'Roak BJ , et al. 2012 Edit
GEN1317 ALDH1L1 aldehyde dehydrogenase 1 family member L1 3q21.3 Rare single gene variant
3
 11 7 Iossifov I et al. 2014 Edit
GEN526 AMT Aminomethyltransferase 3p21.31 Rare single gene variant
2
 Yes 3 2 Yu TW , et al. 2013 Edit
GEN1408 AP2M1 adaptor related protein complex 2 subunit mu 1 3q27.1 Multigenic CNV
3
 13 9 Rolland T et al. 2023 Edit
GEN1267 ARHGAP31 Rho GTPase activating protein 31 3q13.32-q13.33 Rare single gene variant
2
 8 3 Wilfert AB et al. 2021 Edit
GEN1109 ASB14 ankyrin repeat and SOCS box containing 14 3p14.3 Rare single gene variant
2
 5 5 Iossifov I et al. 2014 Edit
GEN623 ATG7 Autophagy related 7 3p25.3 Functional
2
 Yes 18 10 Tang G , et al. 2014 Edit
GEN273 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 3p25.3 Genetic Association
4
 31 15 Carayol J , et al. 2011 Edit
GEN384 ATXN7 Ataxin 7 3p14.1 Rare single gene variant
2
 3 2 van Daalen E , et al. 2011 Edit
GEN032 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D 3p21.1 Functional
4
 68 31 Jinnah HA , et al. 1999 Edit
GEN656 CACNA2D3 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 3p21.1-p14.3 Rare single gene variant
4
 48 13 Iossifov I , et al. 2012 Edit
GEN670 CADM2 Cell adhesion molecule 2 3p12.1 Genetic association
2
 5 6 Casey JP , et al. 2011 Edit
GEN1079 CADPS calcium dependent secretion activator 3p14.2 Genetic association
2
 5 5 Grove J , et al. 2019 Edit
GEN1320 CHST2 carbohydrate sulfotransferase 2 3q24 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN917 CLSTN2 calsyntenin 2 3q23 Functional
2
 Yes 3 5 Monies D , et al. 2017 Edit
GEN306 CNTN3 contactin 3 3p12.3 Rare Single Gene variant
2
 6 6 Vaags AK , et al. 2012 Edit
GEN050 CNTN4 contactin 4 3p26.3-p26.2 Syndromic
3
 29 27 Roohi J , et al. 2008 Edit
GEN386 CNTN6 Contactin 6 3p26.3 Rare single gene variant
3
 69 17 van Daalen E , et al. 2011 Edit
GEN472 CTNNB1 catenin beta 1 3p22.1 Rare Single Gene variant
4
 127 41 O'Roak BJ , et al. 2012 Edit
GEN599 CX3CR1 Chemokine (C-X3-C motif) receptor 1 3p22.2 Functional
2
 9 4 Zhan Y , et al. 2014 Edit
GEN060 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 3q26.33 Functional
0 3 Mas C , et al. 2000 Edit
GEN987 DHX30 DExH-box helicase 30 3p21.31 Syndromic
3
 49 11 Lessel D , et al. 2017 Edit
GEN028 DIPK2A divergent protein kinase domain 2A 3q24 Rare Single Gene variant
3 3 Morrow EM , et al. 2008 Edit
GEN676 DLG1 discs large MAGUK scaffold protein 1 3q29 Rare single gene variant
3
 12 6 Li J , et al. 2015 Edit
GEN426 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 3q26.33 Functional
0 1 Anitha A , et al. 2012 Edit
GEN075 DRD3 dopamine receptor D3 3q13.31 Genetic Association
2
 6 9 de Krom M , et al. 2008 Edit
GEN797 DVL3 Dishevelled segment polarity protein 3 3q27.1 Rare single gene variant
2
 4 6 Dong S , et al. 2014 Edit
GEN1171 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 3q27.1 Rare single gene variant
2
 5 4 Gonatopoulos-Pournatzis T , et al. 2020 Edit
GEN079 EPHA6 EPH receptor A6 3q11.2 Rare Single Gene variant
2
 9 9 Pinto D , et al. 2010 Edit
GEN1322 EPHB1 EPH receptor B1 3q22.2 Rare single gene variant
4
 32 10 Iossifov I et al. 2014 Edit
GEN089 FBXO40 F-box protein 40 3q13.33 Genetic Association
2
 5 6 Glessner JT , et al. 2009 Edit
GEN090 FEZF2 FEZ family zinc finger 2 3p14.2 Genetic Association
3
 10 10 Wang K , et al. 2009 Edit
GEN091 FHIT fragile histidine triad gene 3p14.2 Genetic Association
0
 19 12 Sebat J , et al. 2007 Edit
GEN095 FOXP1 forkhead box P1 3p13 Rare Single Gene variant
5
 191 72 O'Roak BJ , et al. 2011 Edit
GEN414 GAP43 Growth associated protein 43 3q13.31 Functional
2
 1 2 Zaccaria KJ , et al. 2010 Edit
GEN1288 GBE1 1,4-alpha-glucan branching enzyme 1 3p12.2 Rare single gene variant
2
 11 5 Fanjul-Fernández M et al. 2021 Edit
GEN108 GPX1 glutathione peroxidase 1 3p21.31 Genetic Association
2
 2 6 Ming X , et al. 2009 Edit
GEN716 GRM7 Glutamate receptor, metabotropic 7 3p26.1 Genetic association
2
 25 18 Yang Y and Pan C 2012 Edit
GEN416 GSK3B Glycogen synthase kinase 3 beta 3q13.33 Functional
3
 3 5 Mines MA , et al. 2010 Edit
GEN130 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C 3q27.1 Genetic Association
2
 10 8 Rehnstrm K , et al. 2008 Edit
GEN880 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 3p26.1 Rare single gene variant
3
 26 17 De Rubeis S , et al. 2014 Edit
GEN764 KAT2B K(lysine) acetyltransferase 2B 3p24.3 Rare single gene variant
3
 8 8 Sanders SJ , et al. 2015 Edit
GEN1210 KNG1 kininogen 1 3q27.3 Rare single gene variant
2
 2 2 Luo Y et al. 2020 Edit
GEN1090 MED12L mediator complex subunit 12L 3q25.1 Rare single gene variant
3
 16 7 Iossifov I et al. 2014 Edit
GEN1404 MSL2 MSL complex subunit 2 3q22.3 Rare single gene variant
3
 9 5 Costa CIS et al. 2023 Edit
GEN943 MUC4 mucin 4, cell surface associated 3q29 Rare single gene variant
3
 96 9 Iossifov I , et al. 2012 Edit
GEN1209 MYLK myosin light chain kinase 3q21.1 Rare single gene variant
2
 5 4 Luo Y et al. 2020 Edit
GEN777 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 3q26.31 Genetic association
2
 6 4 Kuo PH , et al. 2015 Edit
GEN170 NLGN1 neuroligin 1 3q26.31 Genetic Association
3
 17 21 Glessner JT , et al. 2009 Edit
GEN187 OXTR oxytocin receptor 3p25.3 Genetic Association
0
 53 50 Wu S , et al. 2005 Edit
GEN1037 PAK2 p21 (RAC1) activated kinase 2 3q29 Rare single gene variant/Functional
2
 5 6 Wang Y , et al. 2018 Edit
GEN858 PCCB propionyl-CoA carboxylase beta subunit 3q22.3 Syndromic
2
 35 12 Witters P , et al. 2016 Edit
GEN1228 PHF7 PHD finger protein 7 3p21.1 Rare single gene variant
2
 15 4 Wang T et al. 2020 Edit
GEN1255 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 3q26.32 Rare single gene variant
3
 12 8 Turner TN et al. 2016 Edit
GEN197 PLCD1 phospholipase C, delta 1 3p22.2 Rare Single Gene variant
2
 6 11 O'Roak BJ , et al. 2011 Edit
GEN1257 PLXNA1 plexin A1 3q21.3 Rare single gene variant
3
 Yes 24 9 De Rubeis S , et al. 2014 Edit
GEN872 PLXNB1 plexin B1 3p21.31 Rare single gene variant
3
 9 5 De Rubeis S , et al. 2014 Edit
GEN545 PRICKLE2 prickle planar cell polarity protein 2 3p14.1 Rare single gene variant/multigenic CNV
3
 14 8 Sowers LP , et al. 2013 Edit
GEN1374 PSMD6 proteasome 26S subunit, non-ATPase 6 3p14.1 Rare single gene variant
2
 3 3 Satterstrom FK et al. 2020 Edit
GEN919 QRICH1 glutamine rich 1 3p21.31 Rare single gene variant
4
 57 14 De Rubeis S , et al. 2014 Edit
GEN725 RAB43 RAB43, member RAS oncogene family 3q21.3 Rare single gene variant
2
 2 2 Krumm N , et al. 2015 Edit
GEN211 RBMS3 RNA binding motif, single stranded interacting protein 3 3p24.1 Rare Single Gene variant
2
 2 3 O'Roak BJ , et al. 2011 Edit
GEN218 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 3p12.3 Functional
3
 15 15 Hu VW , et al. 2006 Edit
GEN493 ROBO2 roundabout guidance receptor 2 3p12.3 Functional
2
 11 10 Prasad A , et al. 2013 Edit
GEN1173 RSRC1 arginine and serine rich coiled-coil 1 3q25.32 Syndromic
Yes 13 7 Perez Y et al. 2018 Edit
GEN1160 SATB1 SATB homeobox 1 3p24.3 Rare single gene variant
4
 40 4 Satterstrom FK et al. 2020 Edit
GEN1263 SCN10A sodium voltage-gated channel alpha subunit 10 3p22.2 Rare single gene variant
2
 Yes 29 8 Kambouris M et al. 2016 Edit
GEN695 SCN5A sodium voltage-gated channel alpha subunit 5 3p22.2 Rare single gene variant
2
 8 5 Li J , et al. 2015 Edit
GEN1077 SEMA3F semaphorin 3F 3p21.31 Functional
2
 5 4 Li Z , et al. 2019 Edit
GEN474 SETD2 SET domain containing 2 3p21.31 Rare Single Gene variant
4
 84 26 O'Roak BJ , et al. 2012 Edit
GEN607 SETD5 SET domain containing 5 3p25.3 Rare Single Gene variant
4
 141 40 Grozeva D , et al. 2014 Edit
GEN832 SLC33A1 solute carrier family 33 member 1 3q25.31 Functional
0 4 Hullinger R , et al. 2016 Edit
GEN714 SLC6A1 Solute carrier family 6 (neurotransmitter transporter), member 1 3p25.3 Rare single gene variant
5
 169 55 Sanders SJ , et al. 2012 Edit
GEN238 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 3q24 Rare Single Gene variant
3
 23 17 Morrow EM , et al. 2008 Edit
GEN1282 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 3p21.31 Rare single gene variant
2
 7 4 Wilfert AB et al. 2021 Edit
GEN879 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 3p25.3 Rare single gene variant
3
 8 6 Iossifov I et al. 2014 Edit
GEN863 STAG1 stromal antigen 1 3q22.3 Syndromic
3
 25 10 Lehalle D , et al. 2017 Edit
GEN242 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 3p14.1 Rare Single Gene variant
2
 6 6 Bucan M , et al. 2009 Edit
GEN563 SYN2 Synapsin II 3p25.2 Genetic association
2
 5 7 Corradi A , et al. 2013 Edit
GEN980 TBC1D23 TBC1 domain family member 23 3q12.1-q12.2 Syndromic
2
 11 6 Marin-Valencia I , et al. 2017 Edit
GEN248 TBC1D5 TBC1 domain family, member 5 3p24.3 Rare Single Gene variant
2
 8 10 Pinto D , et al. 2010 Edit
GEN476 TBL1XR1 transducin beta like 1 X-linked receptor 1 3q26.32 Rare Single Gene variant
4
 51 34 O'Roak BJ , et al. 2012 Edit
GEN959 TM4SF19 transmembrane 4 L six family member 19 3q29 Rare single gene variant
2
 3 4 Iossifov I , et al. 2012 Edit
GEN1354 TOP2B DNA topoisomerase II beta 3p24.2 Functional
3
 6 7 Zhou X et al. 2022 Edit
GEN266 XIRP1 xin actin-binding repeat containing 1 3p22.2 Rare Single Gene variant
3
 14 11 O'Roak BJ , et al. 2011 Edit
GEN267 XPC xeroderma pigmentosum, complementation group C 3p25.1 Rare Single Gene variant
2
 8 12 Khan SG , et al. 1998 Edit
GEN397 YEATS2 YEATS domain containing 2 3q27.1 Genetic association
3
 7 4 Anney R , et al. 2012 Edit
GEN619 ZBTB20 Zinc finger and BTB domain containing 20 3q13.31 Multigenic CNV
4
 71 31 Cordeddu V , et al. 2014 Edit
GEN1417 ZBTB47 zinc finger and BTB domain containing 47 3p22.1 Rare single gene variant
2
 U 5 1 et al. Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
3
Deletion-Duplication
 10
 
 
3
Duplication
 1
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 11
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Duplication
 2
 
 
3
Deletion-Duplication
 23
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Duplication
 2
 
 
3
Deletion
 12
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Deletion
 11
 
 
3
Deletion-Duplication
 29
 
 
3
Deletion
 1
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 15
 
 
3
Deletion
 1
 
 
3
Duplication
 4
 
 
3
Deletion
 7
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 3
 
 
3
Deletion-Duplication
 17
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 2
 
 
3
Deletion
 13
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 12
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 14
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 18
 
 
3
Deletion-Duplication
 1
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 15
 
 
3
Deletion
 2
 
 
3
Deletion
 6
 
 
3
Deletion-Duplication
 20
 
 
3
Duplication
 1
 
 
3
Deletion
 3
 
 
3
Deletion-Duplication
 23
 
 
3
Deletion
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 17
 
 
3
N/A
 2
 
 
3
Deletion-Duplication
 63
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 3
 
 
3
Deletion
 4
 
 
3
Duplication
 14
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 9
 
 
3
Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 6
 
 
3
Deletion-Duplication
 4
 
 
3
Deletion
 1
 
 
3
Deletion
 6
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 5
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 5
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 4
 
 
3
Deletion
 7
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 17
 
 
3
Duplication
 4
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 6
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion-Duplication
 5
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion-Duplication
 13
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 4
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 18
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 13
 
 
3
Duplication
 1
 
 
3
Duplication
 3
 
 
3
Deletion
 1
 
 
3
Deletion
 8
 
 
3
Deletion
 1
 
 
3
Deletion
 3
 
 
3
Deletion
 3
 
 
3
Deletion-Duplication
 5
 
 
3
Deletion
 8
 
 
3
Duplication
 2
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 5
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 24
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 3
 
 
3
Deletion
 5
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion-Duplication
 5
 
 
3
Duplication
 2
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 5
 
 
3
Deletion
 1
 
 
3
Deletion
 4
 
 
3
Deletion-Duplication
 6
 
 
3
Deletion
 1
 
 
3
Deletion
 4
 
 
3
Deletion-Duplication
 16
 
 
3
Duplication
 5
 
 
3
Deletion-Duplication
 69
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  stj
 straightjacket
 Drosophila melanogaster
 
 1
 6
 
 calcium channel, voltage-dependent, alpha2/delta subunit 3
 Mus musculus
 3p21.1-p14.3
 1
 2
 
  Atg7
 Autophagy related 7
 Mus musculus
 
 1
 2
 
  Syn2
 Synapsin II
 Mus musculus
 
 2
 3
 
 prickle homolog 2 (Drosophila)
 Mus musculus
 
 2
 2
 
 calcium channel, voltage-dependent, L type, alpha 1D subunit
 Mus musculus
 
 2
 6
 
  Cntn4
 contactin 4
 Mus musculus
 Unknown
 3
 3
 
  Setd5
 SET domain containing 5
 Mus musculus
 
 3
 4
 
  Dvl3
 Dishevelled segment polarity protein 3
 Mus musculus
 
 1
 5
 
  Drd3
 Dopamine receptor 3
 Mus musculus
 Unknown
 2
 3
 
  PlexB
 Plexin B
 Drosophila melanogaster
 
 1
 2
 
  Fezf2
 Fez family zinc finger 2
 Mus musculus
 Unknown
 1
 1
 
  Gap43
 growth associated protein 43
 Mus musculus
 Unknown
 1
 1
 
  Foxp1
 forkhead box P1
 Mus musculus
 Unknown
 6
 9
 
  Slc9a9
 solute carrier family 9 (sodium/hydrogen exchanger), member 9
 Mus musculus
 Chromosome 3
 1
 3
 
  Epha6
 Eph receptor A6
 Mus musculus
 Unknown
 1
 1
 
  Pak2
 p21 (RAC1) activated kinase 2
 Mus musculus
 
 1
 3
 
  Gsk3b
 glycogen synthase kinase 3 beta
 Mus musculus
 Unknown
 1
 1
 
  Atp2b2
 ATPase, Ca++ transporting, plasma membrane 2
 Mus musculus
 
 1
 1
 
  Slc6a1
 Solute carrier family 6
 Mus musculus
 
 1
 1
 
  Eif4g1
 eukaryotic translation initiation factor 4, gamma 1
 Mus musculus
 
 1
 2
 
  Nlgn1
 neuroligin 1
 Mus musculus
 Unknown
 7
 10
 
  Sema3f
 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
 Mus musculus
 
 1
 3
 
  Oxtr
 Oxytocin receptor
 Mus musculus
 Unknown
 7
 17
 
 Solute carrier family 33 member 1
 Mus musculus
 Unknown
 1
 2
 
  ctnnb1
 catenin (cadherin associated protein), beta 1
 Mus musculus
 Not reported
 1
 1
 
  dlg1
 discs large 1
 Drosophila melanogaster
 
 2
 7

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
Adenylate cyclase type 5
1
ATPase, Ca++ transporting, plasma membrane 2
121
ataxin 7
3
contactin 4
6
contactin 6
3
catenin (cadherin-associated protein), beta 1, 88kDa
235
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
12
discs, large homolog 1 (Drosophila)
18
dopamine receptor D3
8
dishevelled, dsh homolog 3 (Drosophila)
27
F-box only protein 40
6
Fez family zinc finger protein 2
4
fragile histidine triad gene
14
forkhead box P1
153
growth associated protein 43
33
glutathione peroxidase 1
3
glycogen synthase kinase 3 beta
26
5-hydroxytryptamine receptor 3C
42
K(lysine) acetyltransferase 2B
28
neuroligin 1
21
oxytocin receptor
13
prickle homolog 2 (Drosophila)
17
roundabout, axon guidance receptor, homolog 1 (Drosophila)
3
roundabout, axon guidance receptor, homolog 2 (Drosophila)
5
sodium channel, voltage-gated, type V, alpha subunit
5
SET domain containing 2
26
SET domain containing 5
17
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3
succinate-CoA ligase, GDP-forming, beta subunit
10
TBC1 domain family, member 5
14
transducin (beta)-like 1 X-linked receptor 1
49
XPC
xeroderma pigmentosum, complementation group C
56
zinc finger and BTB domain containing 20
18
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