Summary?
GeneID 9882
Symbol TBC1D4
Synonyms AS160|NIDDM5
Description TBC1 domain family member 4
Reference MIM:612465|HGNC:HGNC:19165|Ensembl:ENSG00000136111|HPRD:18164|Vega:OTTHUMG00000017088
Gene type protein-coding
Map location 13q22.2
Pascal p-value 0.285
Sherlock p-value 0.444
Fetal beta -0.658
DMG 1 (# studies)
eGene Cerebellum
Cortex
Myers' cis & trans
Support Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
TBC1D4 chr13 76055883 A G NM_014832 . silent Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg17878506 13 76056784 TBC1D4 2.037E-4 -0.364 0.035 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs2256500 chr1 17890573 TBC1D4 9882 0.19 trans

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

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
MTMR6 0.89 0.89
ARL1 0.89 0.90
TSNAX 0.88 0.89
IMPA1 0.88 0.90
SPTLC1 0.86 0.87
C6orf211 0.86 0.89
DNAJB9 0.86 0.89
PPP3R1 0.86 0.89
EFHA2 0.85 0.90
ARL8B 0.85 0.87
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AL022328.1 -0.51 -0.57
ZNF814 -0.46 -0.52
AC006028.3 -0.46 -0.50
C16orf79 -0.45 -0.49
AC010300.1 -0.44 -0.47
DMPK -0.44 -0.43
NPIP -0.43 -0.43
IL3RA -0.43 -0.57
WDR86 -0.43 -0.42
SMTN -0.42 -0.45

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
C12orf35 FLJ10652 | FLJ20696 chromosome 12 open reading frame 35 - HPRD 12421765
C3orf63 DKFZp686C2456 | KIAA1105 | RAP140 | se89-1 chromosome 3 open reading frame 63 - HPRD 12421765
CDK5RAP2 C48 | Cep215 | DKFZp686B1070 | DKFZp686D1070 | KIAA1633 | MCPH3 CDK5 regulatory subunit associated protein 2 - HPRD 12421765
DNPEP ASPEP | DAP aspartyl aminopeptidase Affinity Capture-MS BioGRID 17353931
EP400 CAGH32 | DKFZP434I225 | FLJ42018 | FLJ45115 | P400 | TNRC12 E1A binding protein p400 - HPRD 12421765
KIAA0556 - KIAA0556 - HPRD 12421765
NAV1 DKFZp781D0314 | FLJ12560 | FLJ14203 | KIAA1151 | MGC14961 | POMFIL3 | steerin-1 neuron navigator 1 - HPRD 12421765
NFAT5 KIAA0827 | NF-AT5 | NFATL1 | NFATZ | OREBP | TONEBP nuclear factor of activated T-cells 5, tonicity-responsive - HPRD 12421765
RBM12 HRIHFB2091 | KIAA0765 | SWAN RNA binding motif protein 12 - HPRD 12421765
TOPBP1 TOP2BP1 topoisomerase (DNA) II binding protein 1 - HPRD 12421765
ZMIZ1 FLJ13541 | KIAA1224 | MIZ | RAI17 | Zimp10 | hZIMP10 zinc finger, MIZ-type containing 1 - HPRD 12421765


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID INSULIN GLUCOSE PATHWAY 26 24 All SZGR 2.0 genes in this pathway
PID PI3KCI AKT PATHWAY 35 30 All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER UP 96 57 All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579 346 All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663 425 All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320 184 All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362 238 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501 327 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
PROVENZANI METASTASIS DN 136 94 All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232 154 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 UP 121 71 All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 AND DCC TARGETS 35 25 All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464 276 All SZGR 2.0 genes in this pathway
KIM GERMINAL CENTER T HELPER UP 66 42 All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS DN 371 218 All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261 183 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953 554 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911 527 All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011 592 All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491 310 All SZGR 2.0 genes in this pathway
阿塞维多甲基化在肝脏CANCER DN 940 425 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 UP 338 225 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418 282 All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 DN 245 150 All SZGR 2.0 genes in this pathway
LEE EARLY T LYMPHOCYTE DN 57 36 All SZGR 2.0 genes in this pathway
JISON SICKLE CELL DISEASE DN 181 97 All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745 475 All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS UP 279 155 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-138 761 767 1A hsa-miR-138brain AGCUGGUGUUGUGAAUC
miR-181 431 438 1A,m8 hsa-miR-181abrain AACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZ AACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrain AACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrain AACAUUCAUUGUUGUCGGUGGGUU
miR-23 1097 1103 1A hsa-miR-23abrain AUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrain AUCACAUUGCCAGGGAUUACC
miR-26 418 425 1A,m8 hsa-miR-26abrain UUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZ UUCAAGUAAUUCAGGAUAGGUU
miR-433-3p 307 313 1A hsa-miR-433brain AUCAUGAUGGGCUCCUCGGUGU
miR-493-5p 212 218 m8 hsa-miR-493-5p UUGUACAUGGUAGGCUUUCAUU
miR-9 448 454 1A hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA