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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
GEN274 ADK adenosine kinase 10q22.2 Rare Single Gene variant
Yes 2 2 Najmabadi H , et al. 2011 Edit
GEN1214 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 10q22.2 Rare single gene variant
2
4 2 Luo Y et al. 2020 Edit
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
3
50 34 Bi C , et al. 2012 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
3
7 7 Stark Z , et al. 2010 Edit
GEN298 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) 10q23.32 Rare Single Gene variant
3
16 9 Salyakina D , et al. 2011 Edit
GEN1095 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase 10q24.32 Rare single gene variant
2
4 4 De Rubeis S , et al. 2014 Edit
GEN612 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit 10p12.33-p12.31 Genetic association
3
16 12 Breitenkamp AF , et al. 2014 Edit
GEN1289 CELF2 CUGBP Elav-like family member 2 10p14 Rare single gene variant
3
9 4 C Yuen RK et al. 2017 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
3
Yes 62 19 Wang K , et al. 2009 Edit
GEN883 DIP2C disco interacting protein 2 homolog C 10p15.3 Rare single gene variant
4
29 7 Iossifov I et al. 2014 Edit
GEN748 DOCK1 Dedicator of cytokinesis 1 10q26.2 Rare single gene variant
2
3 3 Griswold AJ , et al. 2015 Edit
GEN516 DYDC1 DPY30 domain containing 1 10q23.1 Multigenic CNV
2
8 2 Girirajan S , et al. 2013 Edit
GEN517 DYDC2 DPY30 domain containing 2 10q23.1 Multigenic CNV
7 1 Girirajan S , et al. 2013 Edit
GEN989 EBF3 early B-cell factor 3 10q26.3 Rare single gene variant
4
106 22 Tanaka AJ , et al. 2017 Edit
GEN076 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) 10q21.3 Functional
0
1 5 Hu VW , et al. 2006 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
0 1 Gkogkas CG , et al. 2012 Edit
GEN681 EXOC6 exocyst complex component 6 10q23.33 Rare single gene variant
2
8 3 Li J , et al. 2015 Edit
GEN299 FGFBP3 fibroblast growth factor binding protein 3 10q23.32 Rare Single Gene variant
1 1 Salyakina D , et al. 2011 Edit
GEN1030 FGFR2 fibroblast growth factor receptor 2 10q26.13 Functional
3
9 8 Szczurkowska J , et al. 2018 Edit
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
2
7 7 Glessner JT , et al. 2009 Edit
GEN1246 HNRNPF heterogeneous nuclear ribonucleoprotein F 10q11.21 Rare single gene variant
2
4 4 Iossifov I et al. 2014 Edit
GEN131 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 10q23.31 Genetic Association
2
6 5 Lassig JP , et al. 1999 Edit
GEN1325 ITGA8 integrin subunit alpha 8 10p13 Rare single gene variant
3
15 7 Iossifov I et al. 2014 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
3
22 10 Castermans D , et al. 2007 Edit
GEN1231 KAT6B lysine acetyltransferase 6B 10q22.2 Rare single gene variant
3
66 8 Wang T et al. 2020 Edit
GEN141 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 10q22.3 Rare single gene variant
4
39 31 Laumonnier F , et al. 2006 Edit
GEN1155 LDB1 LIM domain binding 1 10q24.32 Rare single gene variant
3
6 4 De Rubeis S , et al. 2014 Edit
GEN147 LZTS2 leucine zipper, putative tumor suppressor 2 10q24.31 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN1149 MKX mohawk homeobox 10p12.1 Rare single gene variant
2
4 3 Satterstrom FK et al. 2020 Edit
GEN693 MYOZ1 myozenin 1 10q22.2 Rare single gene variant
2
1 1 Li J , et al. 2015 Edit
GEN399 PCDH15 protocadherin related 15 10q21.1 Genetic association
3
45 11 Anney R , et al. 2012 Edit
GEN1308 PDZD8 PDZ domain containing 8 10q25.3-q26.11 Functional
2
5 3 Al-Amri AH et al. 2022 Edit
GEN1187 POLR3A RNA polymerase III subunit A 10q22.3 Syndromic
3
Yes 14 11 C Yuen RK et al. 2017 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
5
177 100 Goffin A , et al. 2001 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
1 3 Castermans D , et al. 2007 Edit
GEN1406 SLC35G1 solute carrier family 35 member G1 10q23.33 Rare single gene variant
2
5 4 Wang J et al. 2023 Edit
GEN877 SMC3 structural maintenance of chromosomes 3 10q25.2 Syndromic
3
28 14 Iossifov I et al. 2014 Edit
GEN1192 SORCS3 sortilin related VPS10 domain containing receptor 3 10q25.1 Rare single gene variant
0
6 6 Wu Y et al. 2020 Edit
GEN1213 SYCE1 synaptonemal complex central element protein 1 10q26.3 Rare single gene variant
2
7 3 Luo Y et al. 2020 Edit
GEN1277 TAF5 TATA-box binding protein associated factor 5 10q24.33 Rare single gene variant
2
7 3 Wilfert AB et al. 2021 Edit
GEN652 TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) 10q25.2-q25.3 Rare single gene variant
4
37 13 Iossifov I et al. 2014 Edit
GEN1400 TRIM8 tripartite motif containing 8 10q24.32 Rare single gene variant
4
20 5 Miyake N et al. 2023 Edit
GEN845 UCN3 urocortin 3 10p15.1 Functional
0 1 Shemesh Y , et al. 2016 Edit
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
3
13 10 Nguyen LS , et al. 2013 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
4
68 30 Iossifov I et al. 2014 Edit
GEN1065 WDFY4 WDFY family member 4 10q11.23 Rare single gene variant
3
16 11 Iossifov I et al. 2014 Edit
GEN1424 WDR37 WD repeat domain 37 10p15.3 Rare single gene variant
2
15 6 et al. Edit
GEN1143 ZMIZ1 zinc finger MIZ-type containing 1 10q22.3 Syndromic
3
27 11 Liu Y , et al. 2018 Edit
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
4
53 14 Iossifov I , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 3
 
 
10
Deletion-Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 2
 
 
10
Duplication
 7
 
 
10
Deletion-Duplication
 7
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 17
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 2
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 18
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 7
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 24
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 4
 
 
10
Duplication
 6
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 14
 
 
10
Duplication
 4
 
 
10
Duplication
 4
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 23
 
 
10
Duplication
 17
 
 
10
Deletion-Duplication
 13
 
 
10
Duplication
 5
 
 
10
Duplication
 3
 
 
10
Deletion-Duplication
 28
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 44
 
 
10
Duplication
 2
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 11
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 25
 
 
10
Deletion
 2
 
 
10
Deletion
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 8
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 15
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 7
 
 
10
Deletion
 11
 
 
10
Duplication
 1
 
 
10
Duplication
 2
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 12
 
 
10
Deletion
 1
 
 
10
Duplication
 6
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 7
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
10
Deletion-Duplication
 7
 
 
10
Duplication
 1
 
 
10
Deletion
 4
 
 
10
Deletion-Duplication
 7
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 6
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 43
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 eukaryotic translation initiation factor 4E binding protein 2
 Mus musculus
 
 1
 5
 
  Pten
 Phosphatase and tensin homolog
 Drosophila melanogaster
 
 2
 5
 
  Pten
 phosphatase and tensin homolog
 Mus musculus
 Unknown
 20
 34
 
  Pten
 phosphatase and tensin homolog
 Rattus norvegicus
 
 1
 1
 
  Grid1
 glutamate receptor, ionotropic, delta 1
 Mus musculus
 
 1
 1
 
 Solute carrier family 35, member G1
 Mus musculus
 
 1
 2
 
  Fgfr2
 fibroblast growth factor receptor 2
 Mus musculus
 
 1
 6
 
  Tcf7l2
 transcription factor 7 like 2, T cell specific, HMG box
 Mus musculus
 
 2
 16
 
  Ucn3
 Urocortin 3
 Mus musculus
 
 1
 2
 
  Upf2
 UPF2regulator of nonsense transcripts homolog
 Mus musculus
 
 1
 3
 
  Kcnma1
 potassium large conductance calcium-activated channel, subfamily M, alpha member 1
 Mus musculus
 Yes
 3
 3
 
  Atrnl1
 Attractin like 1
 Mus musculus
 Unknown
 1
 3
 
  kn
 knot
 Drosophila melanogaster
 
 1
 15

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
ADK
adenosine kinase
6
ankyrin 3, node of Ranvier (ankyrin G)
57
attractin-like 1
1
calcium channel, voltage-dependent, beta 2 subunit
7
catenin (cadherin-associated protein), alpha 3
33
DPY30 domain-containing protein 1
13
eukaryotic translation initiation factor 4E binding protein 2
9
exocyst complex component 6
22
jumonji domain containing 1C
13
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
26
leucine zipper, putative tumor suppressor 2
235
phosphatase and tensin homolog
184
receptor accessory protein 3
3
transcription factor 7-like 2 (T-cell specific, HMG-box)
42
WAC
WW domain containing adaptor with coiled-coil
95
zinc finger, MYND-type containing 11
39
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