|
A. C9orf72-FL
|
|
C9orf72
|
chromosome 9 open reading frame 72
|
108
|
103
|
|
TOP 20 C9orf72-INTERACTING PROTEINS
|
|
SMCR8
|
Smith-Magenis syndrome chromosome region, candidate 8
|
165
|
217
|
|
WDR41
|
WD repeat domain 41
|
69
|
85
|
|
FLG2
|
filaggrin family member 2
|
33
|
6
|
|
LRPPRC
|
leucine rich pentatricopeptide repeat containing
|
23
|
25
|
|
IARS
|
isoleucyl-tRNA synthetase
|
21
|
22
|
|
SERPINB3
|
serpin family B member 3
|
21
|
0
|
|
CALML5
|
calmodulin like 5
|
20
|
0
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, alpha subunit
|
18
|
14
|
|
CDSN
|
corneodesmosin
|
17
|
8
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
15
|
18
|
|
FABP5
|
fatty acid binding protein 5
|
15
|
0
|
|
COPB1
|
coatomer protein complex subunit beta 1
|
14
|
14
|
|
DSC1
|
desmocollin 1
|
14
|
15
|
|
U2AF2
|
U2 small nuclear RNA auxiliary factor 2
|
14
|
6
|
|
LUC7L3
|
LUC7 like 3 pre-mRNA splicing factor
|
13
|
4
|
|
EIF2S3
|
eukaryotic translation initiation factor 2 subunit gamma
|
12
|
10
|
|
HNRNPH2
|
heterogeneous nuclear ribonucleoprotein H2
|
12
|
9
|
|
KHDRBS1
|
KH RNA binding domain containing, signal transduction associated 1
|
12
|
6
|
|
PSMC2
|
proteasome 26S subunit, ATPase 2
|
12
|
25
|
|
B. FL-SMCR8
|
|
SMCR8
|
Smith-Magenis syndrome chromosome region, candidate 8
|
1135
|
1182
|
|
TOP 25 SMCR8-INTERACTING PROTEINS
|
|
DNAJA1
|
DnaJ heat shock protein family member A1
|
70
|
76
|
|
GTF2I
|
general transcription factor IIi
|
55
|
61
|
|
CAD
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
|
62
|
48
|
|
ATP1A1
|
ATPase Na+/K+ transporting subunit alpha 1
|
38
|
46
|
|
EPRS
|
glutamyl-prolyl-tRNA synthetase
|
36
|
40
|
|
MAGED1
|
MAGE family member D1
|
26
|
33
|
|
WDR41
|
WD repeat domain 41
|
32
|
33
|
|
DNAJC7
|
DnaJ heat shock protein family member C7
|
30
|
32
|
|
SLC25A3
|
solute carrier family 25 member 3
|
22
|
32
|
|
STUB1
|
STIP1 homology and U-box containing protein 1
|
30
|
31
|
|
GCN1
|
GCN1, eIF2 alpha kinase activator homolog
|
37
|
30
|
|
DDB1
|
damage specific DNA binding protein 1
|
31
|
29
|
|
DYNC1H1
|
dynein cytoplasmic 1 heavy chain 1
|
38
|
29
|
|
CHD4
|
chromodomain helicase DNA binding protein 4
|
13
|
28
|
|
SLC25A11
|
solute carrier family 25 member 11
|
14
|
28
|
|
RANBP2
|
RAN binding protein 2
|
29
|
25
|
|
RUVBL2
|
RuvB like AAA ATPase 2
|
30
|
25
|
|
ATP2A2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
19
|
22
|
|
DNAJA3
|
DnaJ heat shock protein family member A3
|
19
|
22
|
|
IARS
|
isoleucyl-tRNA synthetase
|
18
|
22
|
|
STIP1
|
stress induced phosphoprotein 1
|
37
|
22
|
|
COPA
|
coatomer protein complex subunit alpha
|
23
|
20
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
29
|
20
|
|
AIFM1
|
apoptosis inducing factor, mitochondria associated 1
|
18
|
18
|
|
C9orf72
|
chromosome 9 open reading frame 72
|
15
|
18
|
|
AMINOACYL-tRNA SYNTHESIS
|
|
EPRS
|
glutamyl-prolyl-tRNA synthetase
|
40
|
13
|
|
IARS
|
isoleucyl-tRNA synthetase
|
18
|
22
|
|
DARS
|
aspartyl-tRNA synthetase
|
11
|
8
|
|
MARS
|
methionyl-tRNA synthetase
|
10
|
6
|
|
RARS
|
arginyl-tRNA synthetase
|
9
|
8
|
|
LARS
|
leucyl-tRNA synthetase
|
9
|
14
|
|
QARS
|
glutaminyl-tRNA synthetase
|
8
|
7
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
6
|
4
|
|
TARS
|
threonyl-tRNA synthetase
|
4
|
0
|
|
FARSA
|
phenylalanyl-tRNA synthetase alpha subunit
|
0
|
6
|
|
CELL CYCLE
|
|
SMC3
|
structural maintenance of chromosomes 3
|
12
|
8
|
|
CDK4
|
cyclin dependent kinase 4
|
5
|
0
|
|
PCNA
|
proliferating cell nuclear antigen
|
5
|
4
|
|
MCM7
|
minichromosome maintenance complex component 7
|
4
|
6
|
|
YWHAZ
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
|
4
|
9
|
|
RAD21
|
RAD21 cohesin complex component
|
3
|
0
|
|
CDC7
|
cell division cycle 7
|
3
|
0
|
|
PLK1
|
polo like kinase 1
|
3
|
9
|
|
PPP6C
|
protein phosphatase 6 catalytic subunit
|
3
|
0
|
|
CDKN2A
|
cyclin dependent kinase inhibitor 2A
|
0
|
3
|
|
MCM2
|
minichromosome maintenance complex component 2
|
0
|
4
|
|
MCM5
|
minichromosome maintenance complex component 5
|
0
|
4
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
0
|
4
|
|
HEAT SHOCK PROTEINS / CHAPERONES
|
|
DNAJA1
|
DnaJ heat shock protein family member A1
|
70
|
76
|
|
DNAJC7
|
DnaJ heat shock protein family member C7
|
30
|
32
|
|
DNAJA3
|
DnaJ heat shock protein family member A3
|
19
|
22
|
|
DNAJA3
|
DnaJ heat shock protein family member A3
|
19
|
22
|
|
HSPH1
|
heat shock protein family H member 1
|
19
|
8
|
|
BAG5
|
BCL2 associated athanogene 5
|
18
|
11
|
|
DNAJA2
|
DnaJ heat shock protein family member A2
|
15
|
16
|
|
BAG2
|
BCL2 associated athanogene 2
|
11
|
16
|
|
BAG6
|
BCL2 associated athanogene 6
|
11
|
8
|
|
SERPINH1
|
serpin family H member 1
|
11
|
0
|
|
HSPB1
|
heat shock protein family B member 1
|
10
|
9
|
|
MDN1
|
midasin AAA ATPase 1
|
10
|
14
|
|
FKBP8
|
FK506 binding protein 8
|
8
|
0
|
|
DNAJB6
|
DnaJ heat shock protein family member B6
|
6
|
4
|
|
PFDN2
|
prefoldin subunit 2
|
5
|
4
|
|
DNAJB1
|
DnaJ heat shock protein family member B1
|
4
|
0
|
|
HSPA4
|
heat shock protein family A member 4
|
4
|
3
|
|
HSPA4
|
heat shock protein family A member 4
|
4
|
3
|
|
RBBP7
|
RB binding protein 7, chromatin remodeling factor
|
3
|
4
|
|
SERPINB3
|
serpin family B member 3
|
3
|
0
|
|
BAG3
|
BCL2 associated athanogene 3
|
2
|
3
|
|
UNC45A
|
unc-45 myosin chaperone A
|
2
|
5
|
|
DNAJB11
|
DnaJ heat shock protein family member B11
|
0
|
6
|
|
DNAJC10
|
DnaJ heat shock protein family member C10
|
0
|
5
|
|
PARK7
|
Parkinsonism associated deglycase
|
0
|
4
|
|
MISMATCH REPAIR
|
|
RFC3
|
replication factor C subunit 3
|
5
|
0
|
|
SSBP1
|
single stranded DNA binding protein 1
|
5
|
0
|
|
MSH6
|
mutS homolog 6(MSH6)
|
5
|
5
|
|
POLD3
|
DNA polymerase delta 3, accessory subunit
|
2
|
3
|
|
PCNA
|
proliferating cell nuclear antigen
|
0
|
4
|
|
POLD1
|
DNA polymerase delta 1, catalytic subunit
|
0
|
3
|
|
PHAGOSOME/AUTOPHAGY
|
|
DYNC1H1
|
dynein cytoplasmic 1 heavy chain 1
|
38
|
29
|
|
SEC16A
|
SEC16 homolog A, endoplasmic reticulum export factor
|
14
|
12
|
|
TUBB4A
|
tubulin beta 4A class IVa
|
11
|
10
|
|
IRS4
|
insulin receptor substrate 4
|
10
|
13
|
|
TUBB3
|
tubulin beta 3 class III
|
9
|
13
|
|
TUBB6
|
tubulin beta 6 class V
|
9
|
18
|
|
PPP2R1A
|
protein phosphatase 2 scaffold subunit Aalpha
|
7
|
5
|
|
CDK5
|
cyclin dependent kinase 5
|
7
|
0
|
|
SEC61B
|
Sec61 translocon beta subunit
|
6
|
0
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
5
|
5
|
|
ANKRD28
|
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
|
5
|
5
|
|
RAB1B
|
RAB1B, member RAS oncogene family
|
5
|
0
|
|
SLC3A2
|
solute carrier family 3 member 2
|
4
|
8
|
|
SEC24C
|
SEC24 homolog C, COPII coat complex component
|
4
|
3
|
|
TFRC
|
transferrin receptor
|
4
|
0
|
|
AP3M1
|
adaptor related proteincomplex 3 Mu 1 subunit
|
3
|
0
|
|
PPP6C
|
protein phosphatase 6 catalytic subunit
|
3
|
0
|
|
BAG3
|
BCL2 associated athanogene 3
|
2
|
3
|
|
WDR5
|
WD repeat domain 5
|
0
|
5
|
|
YME1L1
|
YME1 like 1 ATPase
|
0
|
4
|
|
KEAP1
|
kelch like ECH associated protein 1
|
0
|
4
|
|
DYNC1I2
|
dynein cytoplasmic 1 intermediate chain 2
|
0
|
4
|
|
CDKN2A
|
cyclin dependent kinase inhibitor 2A
|
0
|
3
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
0
|
3
|
|
PROTEIN PROCESSING IN THE ENDOPLASMIC RETICULUM
|
|
DNAJA1
|
DnaJ heat shock protein family (Hsp40) member A1
|
70
|
76
|
|
STUB1
|
STIP1 homology and U-box containing protein 1
|
30
|
31
|
|
HSPH1
|
heat shock protein family H (Hsp110) member 1
|
19
|
8
|
|
DNAJA2
|
DnaJ heat shock protein family (Hsp40) member A2
|
15
|
16
|
|
BAG2
|
BCL2 associated athanogene 2
|
11
|
16
|
|
SEC61B
|
Sec61 translocon beta subunit
|
6
|
0
|
|
RPN1
|
ribophorin I
|
5
|
3
|
|
TXNDC5
|
thioredoxin domain containing 5
|
5
|
2
|
|
DNAJB1
|
DnaJ heat shock protein family (Hsp40) member B1
|
4
|
0
|
|
SEC24C
|
SEC24 homolog C, COPII coat complex component
|
4
|
3
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kD subunit
|
3
|
4
|
|
SSR4
|
signal sequence receptor subunit 4
|
2
|
3
|
|
DNAJB11
|
DnaJ heat shock protein family (Hsp40) member B11
|
0
|
6
|
|
DNAJC10
|
DnaJ heat shock protein family (Hsp40) member C10
|
0
|
5
|
|
RRBP1
|
ribosome binding protein 1
|
0
|
3
|
|
PROTEOSOME
|
|
PSMC2
|
proteasome 26S subunit, ATPase 2
|
22
|
18
|
|
PSMD2
|
proteasome 26S subunit, non-ATPase 2
|
18
|
10
|
|
PSMA7
|
proteasome subunit alpha 7
|
17
|
16
|
|
PSMD11
|
proteasome 26S subunit, non-ATPase 11
|
14
|
9
|
|
PSMC3
|
proteasome 26S subunit, ATPase 3
|
12
|
9
|
|
PSMD3
|
proteasome 26S subunit, non-ATPase 3
|
12
|
8
|
|
PSMA5
|
proteasome subunit alpha 5
|
11
|
6
|
|
PSMC5
|
proteasome 26S Subunit, ATPase 5
|
10
|
10
|
|
PSME3
|
proteasome activator subunit 3
|
10
|
11
|
|
PSMA6
|
proteasome subunit alpha 6
|
9
|
0
|
|
PSMD6
|
proteasome 26S subunit, non-ATPase 6
|
9
|
7
|
|
PSMA3
|
proteasome subunit alpha 3
|
8
|
3
|
|
PSMD1
|
proteasome 26S subunit, non-ATPase 1
|
8
|
8
|
|
PSMA1
|
proteasome subunit alpha 1
|
7
|
7
|
|
PSMB1
|
proteasome subunit beta 1
|
7
|
7
|
|
PSMB5
|
proteasome subunit beta 5
|
6
|
6
|
|
PSMC1
|
proteasome 26S subunit, ATPase 1
|
6
|
6
|
|
PSMB2
|
proteasome subunit beta 2
|
5
|
5
|
|
PSMB6
|
proteasome subunit beta 6
|
5
|
5
|
|
PSMC4
|
proteasome 26S subunit, ATPase 4
|
5
|
0
|
|
PSMC6
|
proteasome 26S subunit, ATPase 6
|
5
|
6
|
|
PSMD12
|
proteasome 26S subunit, non-ATPase 12
|
4
|
2
|
|
PSMD7
|
proteasome 26S subunit, non-ATPase 7
|
3
|
0
|
|
PSMD13
|
proteasome 26S subunit, non-ATPase 13
|
0
|
3
|
|
PSMD14
|
proteasome 26S subunit, non-ATPase 14
|
0
|
3
|
|
PSMD8
|
proteasome 26S subunit, non-ATPase 8
|
0
|
6
|
|
RNA TRANSPORT
|
|
RANBP2
|
RAN binding protein 2
|
29
|
25
|
|
XPO1
|
exportin 1
|
13
|
13
|
|
NUP93
|
nucleoporin 93
|
11
|
10
|
|
NUP133
|
nucleoporin 133
|
10
|
15
|
|
THOC2
|
THO complex 2
|
9
|
6
|
|
RANGAP1
|
Ran GTPase activating protein 1
|
8
|
11
|
|
KPNB1
|
karyopherin subunit beta 1
|
7
|
5
|
|
KPNA2
|
karyopherin subunit alpha 2
|
6
|
4
|
|
EIF4A1
|
eukaryotic translation initiation factor 4A1
|
5
|
4
|
|
EIF4G1
|
eukaryotic translation initiation factor 4 gamma 1
|
5
|
4
|
|
NUP155
|
nucleoporin 155
|
4
|
6
|
|
NUP210
|
nucleoporin 210
|
4
|
0
|
|
EIF3F
|
eukaryotic translation initiation factor 3 subunit F
|
3
|
3
|
|
FXR2
|
FMR1 autosomal homolog 2
|
3
|
0
|
|
NUP160
|
nucleoporin 160
|
3
|
4
|
|
NUP205
|
nucleoporin 205
|
3
|
4
|
|
EIF3E
|
eukaryotic translation initiation factor 3 subunit E
|
2
|
4
|
|
FMR1
|
fragile X mental retardation 1
|
2
|
0
|
|
NUP98
|
nucleoporin 98
|
2
|
5
|
|
NUP153
|
nucleoporin 153
|
0
|
5
|
|
THOC3
|
THO complex 3
|
0
|
4
|
|
XPOT
|
exportin for tRNA
|
0
|
4
|
|
UBIQUITINATION / SUMOYLATION
|
|
STUB1
|
STIP1 homology and U-box containing protein 1
|
30
|
31
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin ligase
|
29
|
20
|
|
RANBP2
|
RAN binding protein 2, E3 SUMO ligase
|
29
|
25
|
|
RNF40
|
ring finger protein 40, E3 ubiquitin ligase
|
4
|
10
|
|
USP7
|
ubiquitin specific peptidase 7
|
4
|
9
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
4
|
5
|
|
RNF2
|
ring finger protein 2, , E3 ubiquitin protein ligase
|
3
|
0
|
|
UBR5
|
ubiquitin protein ligase E3 component n-recognin 5
|
3
|
12
|
|
USP15
|
ubiquitin specific peptidase 15
|
3
|
0
|
|
SUMO3
|
small ubiquitin-like modifier 3
|
0
|
3
|
|
MKRN2
|
makorin ring finger protein 2, E3 ubiquitin ligase
|
0
|
3
|
