Summary?
GeneID 837
Symbol CASP4
Synonyms ICE(rel)II|ICEREL-II|ICH-2|Mih1/TX|TX
Description caspase 4
Reference MIM:602664|HGNC:HGNC:1505|Ensembl:ENSG00000196954|HPRD:04047|Vega:OTTHUMG00000166078
Gene type protein-coding
Map location 11q22.2-q22.3
Pascal p-value 0.021
Fetal beta -0.973
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Girard_2011 Whole Exome Sequencing analysis The data set included 15 DNMs found from the exomes of 14 schizophrenia probands and their parents.
PMID:cooccur High-throughput literature-search 系统ematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_I Genome scan meta-analysis Psr: 0.006
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 1.6047

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
CASP4 chr11 104825480 T C NM_001225
NM_033306
p.86K>E
p.30K>E
missense
missense
Schizophrenia DNM:Girard_2011


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

前10名中的基因s
Gene Pearson's Correlation Spearman's Correlation
DNAH7 0.61 0.49
SPAG1 0.57 0.42
DNAH12 0.55 0.40
KIAA1529 0.55 0.41
DNAH2 0.55 0.42
CCDC65 0.54 0.41
DNAH6 0.54 0.39
WDR66 0.54 0.41
FAM154B 0.54 0.39
WDR52 0.54 0.40
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
TAF10 -0.29 -0.37
FAM128A -0.28 -0.36
NRL -0.28 -0.27
AF347015.21 -0.27 -0.19
UQCR -0.27 -0.34
SERF2 -0.26 -0.30
FAM128B -0.26 -0.31
C22orf32 -0.25 -0.29
COX6A1 -0.25 -0.25
C19orf53 -0.25 -0.28

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005515 protein binding IEA -
GO:0005515 protein binding 新闻学会 17353931
GO:0004197 cysteine-type endopeptidase activity IEA -
GO:0008233 peptidase activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006508 proteolysis IEA -
GO:0006508 proteolysis TAS 7797510
GO:0006917 induction of apoptosis TAS 7743998
GO:0042981 regulation of apoptosis IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005622 intracellular IEA -

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
APAF1 CED4 | DKFZp781B1145 apoptotic peptidase activating factor 1 - HPRD,BioGRID 9539746
APP AAA | ABETA | ABPP | AD1 | APPI | CTFgamma | CVAP | PN2 amyloid beta (A4) precursor protein - HPRD 15123740
CASP1 ICE | IL1BC | P45 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) Reconstituted Complex BioGRID 10477277
CASP10 ALPS2 | FLICE2 | MCH4 caspase 10, apoptosis-related cysteine peptidase - HPRD,BioGRID 8962078
CASP14 MGC119078 | MGC119079 caspase 14, apoptosis-related cysteine peptidase - HPRD,BioGRID 9792675
CASP4 ICE(rel)II | ICEREL-II | ICH-2 | Mih1/TX | TX caspase 4, apoptosis-related cysteine peptidase - HPRD,BioGRID 10872455
CASP8 ALPS2B | CAP4 | FLICE | FLJ17672 | MACH | MCH5 | MGC78473 caspase 8, apoptosis-related cysteine peptidase Biochemical Activity BioGRID 8962078
CDK2 p33(CDK2) cyclin-dependent kinase 2 Affinity Capture-MS BioGRID 17353931
CTNNBIP1 ICAT | MGC15093 catenin, beta interacting protein 1 Affinity Capture-MS BioGRID 17353931
DSP DPI | DPII desmoplakin - HPRD 15500642
EIF2S3 EIF2 | EIF2G | EIF2gamma | eIF-2gA eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa Affinity Capture-MS BioGRID 17353931
GCN1L1 GCN1 | GCN1L | KIAA0219 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) Affinity Capture-MS BioGRID 17353931
GSN DKFZp313L0718 gelsolin (amyloidosis, Finnish type) Affinity Capture-MS BioGRID 17353931
HEATR2 FLJ20397 | FLJ25564 | FLJ31671 | FLJ39381 HEAT repeat containing 2 Affinity Capture-MS BioGRID 17353931
IL18 IGIF | IL-18 | IL-1g | IL1F4 | MGC12320 interleukin 18 (interferon-gamma-inducing factor) Biochemical Activity BioGRID 12096920
IL1F7 FIL1 | FIL1(ZETA) | FIL1Z | IL-1F7 | IL-1H4 | IL-1RP1 | IL1H4 | IL1RP1 interleukin 1 family, member 7 (zeta) Biochemical Activity BioGRID 12096920
KIAA0776 RP3-393D12.1 KIAA0776 Affinity Capture-MS BioGRID 17353931
MSH6 GTBP | HNPCC5 | HSAP mutS homolog 6 (E. coli) Affinity Capture-MS BioGRID 17353931
MTHFD1L DKFZp586G1517 | FLJ21145 | FTHFSDC1 | MTC1THFS | dJ292B18.2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like Affinity Capture-MS BioGRID 17353931
MYCBPAP AMAP-1 | AMAP1 | DKFZp434N1415 MYCBP associated protein Affinity Capture-MS BioGRID 17353931
NOD1 CARD4 | CLR7.1 | NLRC1 nucleotide-binding oligomerization domain containing 1 - HPRD,BioGRID 10329646
NUP93 KIAA0095 | MGC21106 nucleoporin 93kDa Affinity Capture-MS BioGRID 17353931
PSEN1 AD3 | FAD | PS1 | S182 presenilin 1 PS1 interacts with caspase 4. This interaction was modeled on a demonstrated interaction between human PS1 and mouse caspase 4. BIND 10069390
PSMB1 FLJ25321 | HC5 | KIAA1838 | PMSB1 | PSC5 proteasome (prosome, macropain) subunit, beta type, 1 Affinity Capture-MS BioGRID 17353931
SERPINB9 CAP-3 | CAP3 | PI9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 - HPRD 10477277
SLC25A22 FLJ13044 | GC1 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 Affinity Capture-MS BioGRID 17353931
SMC1A CDLS2 | DKFZp686L19178 | DXS423E | KIAA0178 | MGC138332 | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCB structural maintenance of chromosomes 1A Affinity Capture-MS BioGRID 17353931
SMC2 CAP-E | CAPE | FLJ10093 | SMC2L1 | hCAP-E structural maintenance of chromosomes 2 Affinity Capture-MS BioGRID 17353931
SMC3 BAM | BMH | CDLS3 | CSPG6 | HCAP | SMC3L1 structural maintenance of chromosomes 3 Affinity Capture-MS BioGRID 17353931
SRPRB APMCF1 signal recognition particle receptor, B subunit Affinity Capture-MS BioGRID 17353931
USP9X DFFRX | FAF | FAM ubiquitin specific peptidase 9, X-linked Affinity Capture-MS BioGRID 17353931
VDAC3 HD-VDAC3 voltage-dependent anion channel 3 Affinity Capture-MS BioGRID 17353931
XIAP API3 | BIRC4 | ILP1 | MIHA | XLP2 X-linked inhibitor of apoptosis Affinity Capture-Western BioGRID 11927604


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
BIOCARTA CASPASE PATHWAY 23 15 All SZGR 2.0 genes in this pathway
PID CASPASE PATHWAY 52 39 All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279 178 All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933 616 All SZGR 2.0 genes in this pathway
REACTOME NOD1 2 SIGNALING PATHWAY 30 22 All SZGR 2.0 genes in this pathway
REACTOME NUCLEOTIDE BINDING DOMAIN LEUCINE RICH REPEAT CONTAINING RECEPTOR NLR SIGNALING PATHWAYS 46 33 All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE DN 92 51 All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN 267 178 All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA ERYTHROID DN 493 298 All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320 184 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455 304 All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER 20Q13 AMPLIFICATION DN 180 101 All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 12HR DN 209 122 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722 443 All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS UP 126 72 All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION CDC25 UP 120 73 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229 142 All SZGR 2.0 genes in this pathway
MARKEY RB1 ACUTE LOF UP 215 137 All SZGR 2.0 genes in this pathway
MANN RESPONSE TO AMIFOSTINE UP 20 12 All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER UP 358 245 All SZGR 2.0 genes in this pathway
ALCALA APOPTOSIS 88 60 All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769 437 All SZGR 2.0 genes in this pathway
MANTOVANI NFKB TARGETS UP 43 33 All SZGR 2.0 genes in this pathway
FERREIRA EWINGS SARCOMA UNSTABLE VS STABLE UP 167 92 All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382 224 All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR UP 176 115 All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN 206 136 All SZGR 2.0 genes in this pathway
BASSO B LYMPHOCYTE NETWORK 143 96 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555 346 All SZGR 2.0 genes in this pathway
LEE LIVER CANCER E2F1 UP 62 35 All SZGR 2.0 genes in this pathway
NEMETH INFLAMMATORY RESPONSE LPS UP 88 64 All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408 274 All SZGR 2.0 genes in this pathway
WU HBX TARGETS 3 UP 18 11 All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228 146 All SZGR 2.0 genes in this pathway
MURAKAMI UV RESPONSE 6HR UP 37 31 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 1691 1088 All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE DN 123 76 All SZGR 2.0 genes in this pathway
ZHANG PROLIFERATING VS QUIESCENT 51 41 All SZGR 2.0 genes in this pathway
GAJATE RESPONSE TO TRABECTEDIN UP 67 45 All SZGR 2.0 genes in this pathway
WU HBX TARGETS 1 UP 16 10 All SZGR 2.0 genes in this pathway
SAFFORD T LYMPHOCYTE ANERGY 87 54 All SZGR 2.0 genes in this pathway
WU HBX TARGETS 2 UP 23 13 All SZGR 2.0 genes in this pathway
HARRIS BRAIN CANCER PROGENITORS 44 23 All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P2 79 55 All SZGR 2.0 genes in this pathway
GALI TP53 TARGETS APOPTOTIC UP 8 7 All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA UP 259 185 All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB UP 245 159 All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D DN 252 155 All SZGR 2.0 genes in this pathway
SEKI INFLAMMATORY RESPONSE LPS UP 77 56 All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN 442 275 All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422 277 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF LCP WITH H3K4ME3 128 68 All SZGR 2.0 genes in this pathway
ONO AML1 TARGETS DN 41 25 All SZGR 2.0 genes in this pathway
ONO FOXP3 TARGETS DN 42 23 All SZGR 2.0 genes in this pathway
KESHELAVA MULTIPLE DRUG RESISTANCE 88 56 All SZGR 2.0 genes in this pathway
FONTAINE FOLLICULAR THYROID ADENOMA DN 68 45 All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 83 63 All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES DN 210 141 All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA LB DN 44 23 All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721 492 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 0 76 54 All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS DN 87 66 All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN DN 88 68 All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA MESENCHYMAL 216 130 All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP 242 159 All SZGR 2.0 genes in this pathway
KIM GLIS2 TARGETS UP 84 61 All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682 433 All SZGR 2.0 genes in this pathway
ALTEMEIER RESPONSE TO LPS WITH MECHANICAL VENTILATION 128 81 All SZGR 2.0 genes in this pathway