Gene Page: TBC1D7
Summary ?
| GeneID | 51256 |
| Symbol | TBC1D7 |
| Synonyms | MGCPH|PIG51|TBC7 |
| Description | TBC1 domain family member 7 |
| Reference | MIM:612655|HGNC:HGNC:21066|Ensembl:ENSG00000145979|HPRD:18165|Vega:OTTHUMG00000014272 |
| Gene type | protein-coding |
| Map location | 6p24.1 |
| Pascal p-value | 0.031 |
| Sherlock p-value | 0.193 |
| Fetal beta | 0.257 |
| DMG | 1 (# studies) |
| eGene | Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans Meta |
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 |
| GSMA_I | Genome scan meta-analysis | Psr: 0.0159 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
| Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| cg22477331 | 6 | 13328902 | TBC1D7 | 1.43E-5 | -0.326 | 0.014 | DMG:Wockner_2014 |
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs12407228 | chr1 | 245900038 | TBC1D7 | 51256 | 0.09 | trans | ||
| rs398151 | 6 | 13281628 | TBC1D7 | ENSG00000145979.13 | 5.573E-7 | 0.01 | 47187 | gtex_brain_ba24 |
| rs202041 | 6 | 13288425 | TBC1D7 | ENSG00000145979.13 | 5.572E-7 | 0.01 | 40390 | gtex_brain_ba24 |
| rs202039 | 6 | 13288578 | TBC1D7 | ENSG00000145979.13 | 5.572E-7 | 0.01 | 40237 | gtex_brain_ba24 |
| rs67298859 | 6 | 13288679 | TBC1D7 | ENSG00000145979.13 | 5.572E-7 | 0.01 | 40136 | gtex_brain_ba24 |
| rs202036 | 6 | 13288737 | TBC1D7 | ENSG00000145979.13 | 5.572E-7 | 0.01 | 40078 | gtex_brain_ba24 |
| rs361522 | 6 | 13289996 | TBC1D7 | ENSG00000145979.13 | 5.591E-7 | 0.01 | 38819 | gtex_brain_ba24 |
| rs202070 | 6 | 13267938 | TBC1D7 | ENSG00000145979.13 | 5.228E-7 | 0 | 60877 | gtex_brain_putamen_basal |
| rs202071 | 6 | 13268158 | TBC1D7 | ENSG00000145979.13 | 5.228E-7 | 0 | 60657 | gtex_brain_putamen_basal |
| rs202072 | 6 | 13268211 | TBC1D7 | ENSG00000145979.13 | 5.228E-7 | 0 | 60604 | gtex_brain_putamen_basal |
| rs202073 | 6 | 13268605 | TBC1D7 | ENSG00000145979.13 | 4.696E-7 | 0 | 60210 | gtex_brain_putamen_basal |
| rs35742117 | 6 | 13269369 | TBC1D7 | ENSG00000145979.13 | 6.053E-7 | 0 | 59446 | gtex_brain_putamen_basal |
| rs202077 | 6 | 13271438 | TBC1D7 | ENSG00000145979.13 | 1.881E-7 | 0 | 57377 | gtex_brain_putamen_basal |
| rs202053 | 6 | 13273643 | TBC1D7 | ENSG00000145979.13 | 1.304E-7 | 0 | 55172 | gtex_brain_putamen_basal |
| rs202050 | 6 | 13274137 | TBC1D7 | ENSG00000145979.13 | 4.714E-7 | 0 | 54678 | gtex_brain_putamen_basal |
| rs202048 | 6 | 13274501 | TBC1D7 | ENSG00000145979.13 | 1.404E-7 | 0 | 54314 | gtex_brain_putamen_basal |
| rs202046 | 6 | 13275570 | TBC1D7 | ENSG00000145979.13 | 1.362E-9 | 0 | 53245 | gtex_brain_putamen_basal |
| rs202045 | 6 | 13275914 | TBC1D7 | ENSG00000145979.13 | 1.3E-9 | 0 | 52901 | gtex_brain_putamen_basal |
| rs202044 | 6 | 13275950 | TBC1D7 | ENSG00000145979.13 | 1.031E-7 | 0 | 52865 | gtex_brain_putamen_basal |
| rs2235173 | 6 | 13276545 | TBC1D7 | ENSG00000145979.13 | 2.224E-6 | 0 | 52270 | gtex_brain_putamen_basal |
| rs202042 | 6 | 13277714 | TBC1D7 | ENSG00000145979.13 | 9.654E-8 | 0 | 51101 | gtex_brain_putamen_basal |
| rs495895 | 6 | 13277915 | TBC1D7 | ENSG00000145979.13 | 2.169E-8 | 0 | 50900 | gtex_brain_putamen_basal |
| rs3817735 | 6 | 13278648 | TBC1D7 | ENSG00000145979.13 | 7.041E-7 | 0 | 50167 | gtex_brain_putamen_basal |
| rs375661 | 6 | 13279431 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 49384 | gtex_brain_putamen_basal |
| rs405078 | 6 | 13279867 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 48948 | gtex_brain_putamen_basal |
| rs441213 | 6 | 13279906 | TBC1D7 | ENSG00000145979.13 | 1.116E-7 | 0 | 48909 | gtex_brain_putamen_basal |
| rs377704 | 6 | 13280019 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 48796 | gtex_brain_putamen_basal |
| rs413120 | 6 | 13280641 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 48174 | gtex_brain_putamen_basal |
| rs445590 | 6 | 13280864 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 47951 | gtex_brain_putamen_basal |
| rs445591 | 6 | 13280866 | TBC1D7 | ENSG00000145979.13 | 9.598E-10 | 0 | 47949 | gtex_brain_putamen_basal |
| rs445714 | 6 | 13280958 | TBC1D7 | ENSG00000145979.13 | 9.6E-10 | 0 | 47857 | gtex_brain_putamen_basal |
| rs202040 | 6 | 13288535 | TBC1D7 | ENSG00000145979.13 | 8.98E-8 | 0 | 40280 | gtex_brain_putamen_basal |
| rs202038 | 6 | 13288648 | TBC1D7 | ENSG00000145979.13 | 8.98E-8 | 0 | 40167 | gtex_brain_putamen_basal |
| rs8541 | 6 | 13290238 | TBC1D7 | ENSG00000145979.13 | 6.67E-8 | 0 | 38577 | gtex_brain_putamen_basal |
| rs202034 | 6 | 13291015 | TBC1D7 | ENSG00000145979.13 | 4.248E-8 | 0 | 37800 | gtex_brain_putamen_basal |
| rs202030 | 6 | 13292152 | TBC1D7 | ENSG00000145979.13 | 8.98E-8 | 0 | 36663 | gtex_brain_putamen_basal |
| rs202028 | 6 | 13292429 | TBC1D7 | ENSG00000145979.13 | 8.988E-8 | 0 | 36386 | gtex_brain_putamen_basal |
| rs515111 | 6 | 13293948 | TBC1D7 | ENSG00000145979.13 | 2.729E-7 | 0 | 34867 | gtex_brain_putamen_basal |
| rs4602719 | 6 | 13295502 | TBC1D7 | ENSG00000145979.13 | 8.701E-8 | 0 | 33313 | gtex_brain_putamen_basal |
| rs1550526 | 6 | 13295515 | TBC1D7 | ENSG00000145979.13 | 1.389E-6 | 0 | 33300 | gtex_brain_putamen_basal |
| rs454563 | 6 | 13295536 | TBC1D7 | ENSG00000145979.13 | 8.701E-8 | 0 | 33279 | gtex_brain_putamen_basal |
| rs7755309 | 6 | 13296347 | TBC1D7 | ENSG00000145979.13 | 3.314E-6 | 0 | 32468 | gtex_brain_putamen_basal |
| rs475165 | 6 | 13297163 | TBC1D7 | ENSG00000145979.13 | 4.286E-7 | 0 | 31652 | gtex_brain_putamen_basal |
| rs6924855 | 6 | 13297476 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 31339 | gtex_brain_putamen_basal |
| rs9369976 | 6 | 13297524 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 31291 | gtex_brain_putamen_basal |
| rs6923757 | 6 | 13297558 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 31257 | gtex_brain_putamen_basal |
| rs9473908 | 6 | 13297883 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 30932 | gtex_brain_putamen_basal |
| rs9473909 | 6 | 13297945 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 30870 | gtex_brain_putamen_basal |
| rs9296641 | 6 | 13298011 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 30804 | gtex_brain_putamen_basal |
| rs9296642 | 6 | 13298184 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 30631 | gtex_brain_putamen_basal |
| rs6909879 | 6 | 13298330 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 30485 | gtex_brain_putamen_basal |
| rs2002961 | 6 | 13298898 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 29917 | gtex_brain_putamen_basal |
| rs909508 | 6 | 13298992 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 29823 | gtex_brain_putamen_basal |
| rs3857594 | 6 | 13299110 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 29705 | gtex_brain_putamen_basal |
| rs878700 | 6 | 13299318 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 29497 | gtex_brain_putamen_basal |
| rs7742398 | 6 | 13300999 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 27816 | gtex_brain_putamen_basal |
| rs34142643 | 6 | 13301178 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 27637 | gtex_brain_putamen_basal |
| rs35952102 | 6 | 13301215 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 27600 | gtex_brain_putamen_basal |
| rs9369978 | 6 | 13301704 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 27111 | gtex_brain_putamen_basal |
| rs6922200 | 6 | 13302034 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 26781 | gtex_brain_putamen_basal |
| rs9369979 | 6 | 13302285 | TBC1D7 | ENSG00000145979.13 | 3.316E-6 | 0 | 26530 | gtex_brain_putamen_basal |
| rs9473929 | 6 | 13305816 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 22999 | gtex_brain_putamen_basal |
| rs9473930 | 6 | 13305950 | TBC1D7 | ENSG00000145979.13 | 1.399E-7 | 0 | 22865 | gtex_brain_putamen_basal |
| rs3800486 | 6 | 13306331 | TBC1D7 | ENSG00000145979.13 | 2.015E-7 | 0 | 22484 | gtex_brain_putamen_basal |
| rs3800485 | 6 | 13306354 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 22461 | gtex_brain_putamen_basal |
| rs3800484 | 6 | 13307046 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 21769 | gtex_brain_putamen_basal |
| rs3800483 | 6 | 13307077 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 21738 | gtex_brain_putamen_basal |
| rs3800482 | 6 | 13307520 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 21295 | gtex_brain_putamen_basal |
| rs3800481 | 6 | 13307536 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 21279 | gtex_brain_putamen_basal |
| rs3823443 | 6 | 13308289 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 20526 | gtex_brain_putamen_basal |
| rs3823442 | 6 | 13308314 | TBC1D7 | ENSG00000145979.13 | 1.255E-7 | 0 | 20501 | gtex_brain_putamen_basal |
| rs6914796 | 6 | 13313458 | TBC1D7 | ENSG00000145979.13 | 1.278E-7 | 0 | 15357 | gtex_brain_putamen_basal |
| rs12697949 | 6 | 13315212 | TBC1D7 | ENSG00000145979.13 | 8.199E-8 | 0 | 13603 | gtex_brain_putamen_basal |
| rs11759028 | 6 | 13315898 | TBC1D7 | ENSG00000145979.13 | 9.076E-8 | 0 | 12917 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
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.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005097 | Rab GTPase activator activity | IEA | - | |
| GO:0005096 | GTPase activator activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0032313 | regulation of Rab GTPase activity | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005622 | intracellular | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| WANG LMO4 TARGETS DN | 352 | 225 | All SZGR 2.0 genes in this pathway |
| RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP | 633 | 376 | All SZGR 2.0 genes in this pathway |
| NUYTTEN NIPP1 TARGETS UP | 769 | 437 | All SZGR 2.0 genes in this pathway |
| NUYTTEN EZH2 TARGETS UP | 1037 | 673 | All SZGR 2.0 genes in this pathway |
| NIKOLSKY BREAST CANCER 6P24 P22 AMPLICON | 21 | 17 | All SZGR 2.0 genes in this pathway |
| DOUGLAS BMI1 TARGETS DN | 314 | 188 | All SZGR 2.0 genes in this pathway |
| SANSOM APC TARGETS | 212 | 121 | All SZGR 2.0 genes in this pathway |
| ZEMBUTSU SENSITIVITY TO MITOMYCIN | 19 | 11 | All SZGR 2.0 genes in this pathway |
| BRUINS UVC RESPONSE LATE | 1137 | 655 | All SZGR 2.0 genes in this pathway |
| CHANGOLKAR H2AFY TARGETS UP | 48 | 28 | All SZGR 2.0 genes in this pathway |