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Gene
CNV
Animal Models
PIN
Human Gene Search Results
Download Human Gene
Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
Gene Ranking
Biallelic
# of Variants
Associated Disorders
# of Reports
Primary Reference
Display
GEN1227
AHNAK
AHNAKnucleoprotein
11q12.3
Rare single gene variant
4
55
6
Wang T et al. 2020
Edit
GEN981
AMBRA1
autophagy and beclin 1 regulator 1
11p11.2
Functional
2
6
8
Dere E , et al. 2014
Edit
GEN1014
APBB1
amyloid beta precursor protein binding family B member 1
11p15.4
Functional
3
6
4
Iossifov I et al. 2014
Edit
GEN816
ARHGAP32
Rho GTPase activating protein 32
11q24.3
Multigenic CNV
3
29
10
Akshoomoff N , et al. 2014
Edit
GEN1343
BACE1
beta-secretase 1
11q23.3
Functional
2
2
4
Kim IB et al. 2022
Edit
GEN625
BDNF
Brain-derived neurotrophic factor
11p14.1
Functional
2
13
Kyzar EJ , et al. 2012
Edit
GEN1080
BRSK2
BR serine/threonine kinase 2
11p15.5
Rare single gene variant
5
33
12
De Rubeis S , et al. 2014
Edit
GEN036
CADM1
cell adhesion molecule 1
11q23.3
Rare Single Gene variant
2
6
10
Zhiling Y , et al. 2008
Edit
GEN555
CAPRIN1
Cell cycle associated protein 1
11p13
Functional
4
17
6
Jiang YH , et al. 2013
Edit
GEN1319
CAT
catalase
11p13
Functional
2
5
4
Iossifov I et al. 2014
Edit
GEN041
CD44
CD44 molecule (Indian blood group)
11p13
Functional
2
2
5
Hu VW , et al. 2006
Edit
GEN1201
CDON
cell adhesion associated, oncogene regulated
11q24.2
Rare single gene variant
2
15
4
Trost B et al. 2020
Edit
GEN385
CNTN5
Contactin 5
11q22.1
Rare single gene variant
3
36
11
van Daalen E , et al. 2011
Edit
GEN1375
CPSF7
cleavage and polyadenylation specific factor 7
11q12.2
Rare single gene variant
2
8
7
C Yuen RK et al. 2017
Edit
GEN1334
CTR9
CTR9homolog, Paf1/RNA polymerase II complex component
11p15.4
Rare single gene variant
3
29
9
De Rubeis S , et al. 2014
Edit
GEN508
DAGLA
diacylglycerol lipase alpha
11q12.2
Rare single gene variant
3
42
7
Prasad A , et al. 2013
Edit
GEN610
DEAF1
DEAF1 transcription factor
11p15.5
Rare single gene variant
5
90
32
Vulto-van Silfhout AT , et al. 2014
Edit
GEN675
DGKZ
diacylglycerol kinase zeta
11p11.2
Rare single gene variant
2
5
3
Li J , et al. 2015
Edit
GEN063
DHCR7
7-dehydrocholesterol reductase
11q13.4
Syndromic
2
37
20
Tierney E , et al. 2001
Edit
GEN852
DIXDC1
DIX domain containing 1
11q23.1
Functional
4
48
6
Martin PM , et al. 2016
Edit
GEN1107
DLG2
discs large MAGUK scaffold protein 2
11q14.1
Rare single gene variant
2
26
14
De Rubeis S , et al. 2014
Edit
GEN1111
DPP3
dipeptidyl peptidase 3
11q13.2
Rare single gene variant
2
6
4
De Rubeis S , et al. 2014
Edit
GEN358
DRD2
Dopamine receptor D2
11q23.2
Rare single gene variant
2
11
7
Hettinger JA , et al. 2012
Edit
GEN733
ELP4
Elongator acetyltransferase complex subunit 4
11p13
Multigenic CNV
2
19
7
Addis L , et al. 2015
Edit
GEN669
EMSY
EMSY, BRCA2 interacting transcriptional repressor
11q13.5
Rare single gene variant
3
14
5
Gupta S , et al. 2014
Edit
GEN413
FOLH1
folate hydrolase 1
11p11.12
Functional
0
2
Han L , et al. 2009
Edit
GEN1272
GAB2
GRB2 associated binding protein 2
11q14.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN373
GAS2
Growth arrest-specific 2
11p14.3
Genetic association
2
1
Weiss LA , et al. 2009
Edit
GEN775
GRIK4
Glutamate receptor, ionotropic, kainate 4
11q23.3
Rare single gene variant
2
9
7
Aller MI , et al. 2015
Edit
GEN355
GRM5
glutamate metabotropic receptor 5
11q14.2-q14.3
Rare single gene variant
3
25
11
Iossifov I , et al. 2012
Edit
GEN400
GUCY1A2
guanylate cyclase 1 soluble subunit alpha 2
11q22.3
Genetic association
2
3
3
Anney R , et al. 2012
Edit
GEN118
HEPACAM
hepatic and glial cell adhesion molecule
11q24.2
Syndromic
2
33
11
Lpez-Hernndez T , et al. 2011
Edit
GEN1249
HNRNPUL2
heterogeneous nuclear ribonucleoprotein U like 2
11q12.3
Rare single gene variant
3
20
4
Gillentine MA et al. 2021
Edit
GEN124
HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
11p15.5
Rare Single Gene variant
2
18
12
Hrault J , et al. 1993
Edit
GEN129
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A
11q23.2
Functional
2
9
9
Anderson BM , et al. 2009
Edit
GEN1074
KCNC1
potassium voltage-gated channel subfamily C member 1
11p15.1
Rare single gene variant
2
8
10
Iossifov I et al. 2014
Edit
GEN967
KCNK7
potassium two pore domain channel subfamily K member 7
11q13.1
Rare single gene variant
2
6
3
Li J , et al. 2017
Edit
GEN1326
KDM2A
lysine demethylase 2A
11q13.2
Rare single gene variant
4
25
9
Iossifov I et al. 2014
Edit
GEN789
KIRREL3
Kin of IRRE like 3 (Drosophila)
11q24.2
Rare single gene variant
3
33
19
Talkowski ME , et al. 2012
Edit
GEN388
KLC2
Kinesin light chain 2
11q13.2
Rare single gene variant
2
4
3
Awadalla P , et al. 2010
Edit
GEN700
KMT2A
Lysine (K)-specific methyltransferase 2A
11q23.3
Syndromic
5
215
50
De Rubeis S , et al. 2014
Edit
GEN336
KMT5B
lysine methyltransferase 5B
11q13.2
Rare Single Gene variant
5
98
27
Sanders SJ , et al. 2012
Edit
GEN1163
LRRC4C
leucine rich repeat containing 4C
11p12
Rare single gene variant
2
4
2
Satterstrom FK et al. 2020
Edit
GEN1300
MAPK8IP1
mitogen-activated protein kinase 8 interacting protein 1
11p11.2
Rare single gene variant
2
3
4
Iossifov I et al. 2014
Edit
GEN765
MFRP
Membrane frizzled-related protein
11q23.3
Rare single gene variant
3
12
8
Sanders SJ , et al. 2015
Edit
GEN921
MSANTD2
Myb/SANT DNA binding domain containing 2
11q24.2
Rare single gene variant
2
3
2
Lim ET , et al. 2017
Edit
GEN814
NAV2
neuron navigator 2
11p15.1
Rare single gene variant
3
26
13
Sanders SJ , et al. 2012
Edit
GEN440
NELL1
neural EGFL like 1
11p15.1
Genetic association
3
3
Connolly JJ , et al. 2012
Edit
GEN271
NRXN2
neurexin 2
11q13.1
Rare Single Gene variant
3
28
17
Gauthier J , et al. 2011
Edit
GEN1207
NXF1
nuclear RNA export factor 1
11q12.3
Rare single gene variant
0
2
2
Luo Y et al. 2020
Edit
GEN767
OR52M1
Olfactory receptor, family 52, subfamily M, member 1
11p15.4
Rare single gene variant
2
2
3
Sanders SJ , et al. 2015
Edit
GEN803
PACS1
phosphofurin acidic cluster sorting protein 1
11q13.1-q13.2
Syndromic
4
54
20
Schuurs-Hoeijmakers JH , et al. 2016
Edit
GEN1113
PAFAH1B2
platelet activating factor acetylhydrolase 1b catalytic subunit 2
11q23.3
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN1127
PAK1
p21 (RAC1) activated kinase 1
11q13.5-q14.1
Syndromic
3
13
7
Kernohan KD , et al. 2019
Edit
GEN743
PAX6
Paired box 6
11p13
Multigenic CNV
2
6
9
Umeda T , et al. 2011
Edit
GEN1330
PC
pyruvate carboxylase
11q13.2
Rare single gene variant
3
18
8
Iossifov I et al. 2014
Edit
GEN1346
PDE3B
phosphodiesterase 3B
11p15.2
Rare single gene variant
3
24
8
Kim IB et al. 2022
Edit
GEN1070
PHF21A
PHD finger protein 21A
11p11.2
Syndromic
4
29
17
Iossifov I et al. 2014
Edit
GEN738
PHRF1
PHD and ring finger domains 1
11p15.5
Rare single gene variant
2
6
5
De Rubeis S , et al. 2014
Edit
GEN1260
PIDD1
p53-induced death domain protein 1
11p15.5
Syndromic
2
Yes
11
4
Zaki MS et al. 2021
Edit
GEN922
POLA2
DNA polymerase alpha 2, accessory subunit
11q13.1
Rare single gene variant
2
7
7
Iossifov I et al. 2014
Edit
GEN512
PPFIA1
PTPRF interacting protein alpha 1
11q13.3
Rare single gene variant
2
6
5
Schluth-Bolard C , et al. 2013
Edit
GEN810
PPP2R1B
protein phosphatase 2 regulatory subunit A, beta
11q23.1
Rare single gene variant
2
8
8
Sanders SJ , et al. 2012
Edit
GEN1421
PRPF19
pre-mRNA processing factor 19
11q12.2
Rare single gene variant
3
9
3
et al.
Edit
GEN229
SHANK2
SH3 and multiple ankyrin repeat domains 2
11q13.3-q13.4
Rare Single Gene variant
4
144
54
Berkel S , et al. 2010
Edit
GEN706
SLC1A2
Solute carrier family 1 (glial high affinity glutamate transporter), member 2
11p13
Multigenic CNV
2
26
10
Aida T , et al. 2015
Edit
GEN809
SLC22A9
solute carrier family 22 member 9
11q12.3
Rare single gene variant
2
6
6
Sanders SJ , et al. 2012
Edit
GEN466
SNX19
sorting nexin 19
11q24.3-q25
Rare single gene variant
0
3
3
Winiowiecka-Kowalnik B , et al. 2012
Edit
GEN1178
SOX6
SRY-box transcription factor 6
11p15.2
Syndromic
2
19
3
Tolchin D et al. 2020
Edit
GEN1147
SRPRA
SRP receptor subunit alpha
11q24.2
Rare single gene variant
3
6
3
Iossifov I et al. 2014
Edit
GEN977
SSRP1
structure specific recognition protein 1
11q12.1
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN1371
TBCEL
tubulin folding cofactor E like
11q23.3
Rare single gene variant
3
3
3
Satterstrom FK et al. 2020
Edit
GEN933
TECTA
tectorin alpha
11q23.3
Rare single gene variant
3
12
9
Sanders SJ , et al. 2012
Edit
GEN251
TH
tyrosine hydroxylase
11p15.5
Genetic Association
2
8
21
Comings DE , et al. 1995
Edit
GEN1217
TMEM134
transmembrane protein 134
11q13.2
Rare single gene variant
2
3
3
Luo Y et al. 2020
Edit
GEN666
TRPC6
Transient receptor potential cation channel, subfamily C, member 6
11q22.1
Rare single gene variant/functional
3
19
6
Griesi-Oliveira K , et al. 2014
Edit
GEN1105
TSPAN4
tetraspanin 4
11p15.5
Rare single gene variant
2
4
5
Iossifov I et al. 2014
Edit
GEN422
TYR
tyrosinase
11q14.3
Functional
3
3
Hamilton SM , et al. 2010
Edit
GEN401
ZBTB16
Zinc finger and BTB domain containing 16
11q23.2
Genetic association
2
2
3
Anney R , et al. 2012
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
11p11.11
Deletion-Duplication
1
11
11p11.12
Deletion-Duplication
13
11
11p11.12-p11.11
Deletion
1
11
11p11.2
Deletion-Duplication
15
11
11p11.2-p11.12
Deletion-Duplication
4
11
11p11.2-q11
Duplication
1
11
11p12
Deletion-Duplication
15
11
11p12-p11.2
Deletion
2
11
11p13
Deletion-Duplication
29
11
11p13-p11.2
Deletion
2
11
11p13-p12
Deletion-Duplication
4
11
11p14.1
Deletion-Duplication
5
11
11p14.1-p11.2
Deletion
1
11
11p14.1-p12
Deletion
3
11
11p14.1-p13
Deletion
4
11
11p14.2
Deletion
2
11
11p14.2-p12
Deletion
1
11
11p14.2-p13
Deletion
2
11
11p14.2-p14.1
Duplication
1
11
11p14.3
Deletion-Duplication
18
11
11p14.3-p11.2
Deletion
1
11
11p14.3-p12
Deletion
2
11
11p14.3-p13
Deletion
2
11
11p14.3-p14.1
Deletion
1
11
11p14.3-p14.2
Duplication
4
11
11p15.1
Deletion-Duplication
20
11
11p15.1-p11.2
Deletion
1
11
11p15.1-p12
Deletion
1
11
11p15.1-p13
Deletion
1
11
11p15.2
Duplication
11
11
11p15.2-p15.1
Deletion
2
11
11p15.3
Deletion-Duplication
5
11
11p15.3-p15.2
Duplication
1
11
11p15.4
Deletion-Duplication
34
11
11p15.5
Deletion-Duplication
23
11
11p15.5-p13
Duplication
1
11
11p15.5-p15.4
Duplication
1
11
11q11
Deletion-Duplication
18
11
11q11-q12.1
Deletion
3
11
11q12.1
Deletion-Duplication
11
11
11q12.1-q12.2
Duplication
5
11
11q12.2
Deletion-Duplication
7
11
11q12.3
Deletion-Duplication
11
11
11q12.3-q13.1
Deletion
1
11
11q13
Deletion
1
11
11q13.1
Deletion
12
11
11q13.1-q13.2
Deletion-Duplication
1
11
11q13.2
Deletion-Duplication
18
11
11q13.2-q13.3
Deletion
1
11
11q13.2-q13.4
Deletion
3
11
11q13.2-q25
Duplication
1
11
11q13.3
Deletion
7
11
11q13.3-q13.4
Duplication
3
11
11q13.4
Deletion-Duplication
17
11
11q13.4-q13.5
Deletion
1
11
11q13.4-q14.1
Deletion
1
11
11q13.5
Duplication
7
11
11q14
Deletion
1
11
11q14.1
Deletion-Duplication
34
11
11q14.1-q14.2
Duplication
2
11
11q14.1-q22.2
Deletion
1
11
11q14.1-q22.3
Deletion
1
11
11q14.2
Deletion-Duplication
10
11
11q14.2-q14.3
Deletion
3
11
11q14.3
Deletion-Duplication
9
11
11q21
Deletion-Duplication
11
11
11q21-q22.1
Deletion-Duplication
2
11
11q21-q22.3
Deletion
1
11
11q22.1
Deletion-Duplication
18
11
11q22.1-q22.2
Duplication
1
11
11q22.1-q25
Duplication
1
11
11q22.2
Deletion-Duplication
4
11
11q22.3
Deletion-Duplication
26
11
11q22.3-q23.1
Deletion
1
11
11q23.1
Deletion-Duplication
5
11
11q23.2
Deletion
3
11
11q23.2-q23.3
Duplication
2
11
11q23.3
Deletion-Duplication
19
11
11q23.3-q24.1
Duplication
1
11
11q23.3-q25
Deletion
9
11
11q24.1
Deletion-Duplication
6
11
11q24.1-q24.2
Deletion
1
11
11q24.1-q24.3
Duplication
1
11
11q24.1-q25
Deletion-Duplication
5
11
11q24.2
Deletion-Duplication
13
11
11q24.2-q24.3
Deletion
2
11
11q24.2-q25
Deletion
9
11
11q24.3
Deletion-Duplication
11
11
11q24.3-q25
Deletion
9
11
11q25
Deletion-Duplication
23
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Hmt4-20
Histone methyltransferase 4-20
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Kmt5b
lysine methyltransferase 5B
Mus musculus
NA
Wickramasekara RN et al. 2021
2
2
Kmt2a
Lysine (K)-specific methyltransferase 2A
Mus musculus
Shen EY , et al. 2016
3
4
Htr3a
5-hydroxytryptamine (serotonin) receptor 3A
Mus musculus
Unknown
Bhattacharya A , et al. 2004
2
3
Grik4
Glutamate receptor, ionotropic, kainate 4
Mus musculus
et al.
4
12
Grm5
glutamate receptor, metabotropic 5
Mus musculus
Lu YM , et al. 1997
3
12
Shank2
SH3/ankyrin domain gene 2
Mus musculus
Schmeisser MJ , et al. 2012
9
24
Shank2
SH3 and multiple ankyrin repeat domains 2
Rattus norvegicus
Modi ME , et al. 2018
1
5
Drd4
dopamine receptor D4
Mus musculus
Unknown
Nemirovsky SI , et al. 2009
1
1
Trpc6
Transient receptor potential cation channel, subfamily C, member 6
Mus musculus
Griesi-Oliveira K , et al. 2014
1
4
Tyr
Tyrosinase
Mus musculus
Unknown
Hamilton SM , et al. 2010
1
1
Caprin1
RNA granule protein 105 (Caprin 1)
Mus musculus
Unknown
Ohashi R , et al. 2016
1
2
Nrxn2
Neurexin 2
Mus musculus
Dachtler J , et al. 2014
2
3
Cadm1
cell adhesion molecule 1
Mus musculus
Unknown
Takayanagi Y , et al. 2010
2
4
Bdnf
brain derived neurotrophic factor
Mus musculus
Kyzar EJ , et al. 2012
1
1
Nell1
NEL-like 1
Mus musculus
et al.
1
2
Kirrel3
kirre like nephrin family adhesion molecule 3
Mus musculus
Hisaoka T , et al. 2018
1
1
Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
Mus musculus
Aida T , et al. 2015
1
8
Deaf1
Deformed epidermal autoregulatory factor-1
Drosophila melanogaster
Veraksa A , et al. 2002
1
17
Deaf1
Deformed epidermal autoregulatory factor 1
Mus musculus
11p15.5
Luckhart C , et al. 2016
3
9
Pax6
paired box 6
Rattus norvegicus
Umeda T , et al. 2011
2
2
Dhcr7
7-dehydrocholesterol reductase
Mus musculus
Fitzky BU , et al. 2001
3
5
Dagla
diacylglycerol lipase, alpha
Mus musculus
Shonesy BC , et al. 2018
1
4
Ambra1
autophagy and beclin 1 regulator 1
Mus musculus
11p11.2
Dere E , et al. 2014
3
4
pacs1a
phosphofurin acidic cluster sorting protein 1a
Danio rerio
Schuurs-Hoeijmakers JH , et al. 2012
1
2
Arntl
aryl hydrocarbon receptor nuclear translocator-like
Mus musculus
Liu D et al. 2022
2
4
Folh1
folate hydrolase
Mus musculus
-
Han L , et al. 2009
2
4
Arhgap32
Rho GTPase activating protein 32
Mus musculus
Nakamura T , et al. 2016
1
3
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ARHGAP32
Rho GTPase activating protein 32
9
BDNF
brain-derived neurotrophic factor
9
CADM1
cell adhesion molecule 1
22
CAPRIN1
cell cycle associated protein 1
4
CD44
CD44 molecule (Indian blood group)
53
CHORDC1
cysteine and histidine-rich domain (CHORD) containing 1
17
DEAF1
DEAF1 transcription factor
25
DGKZ
diacylglycerol kinase, zeta
4
DHCR7
7-dehydrocholesterol reductase
10
DRD2
dopamine receptor D2
45
GRM5
glutamate receptor, metabotropic 5
38
HEPACAM
hepatic and glial cell adhesion molecule
8
HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
43
KLC2
kinesin light chain 2
22
KMT2A
lysine (K)-specific methyltransferase 2A
3
NELL1
NEL-like 1 (chicken)
22
NRXN2
Neurexin-2
12
PAX6
paired box 6
347
PPFIA1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
16
PTPMT1
protein tyrosine phosphatase, mitochondrial 1
1
SHANK2
SH3 and multiple ankyrin repeat domains 2
27
TH
Tyrosine 3-monooxygenase
10
TRPC6
Short transient receptor potential channel 6
2
MYO7A
Unconventional myosin-VIIa
0
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