Gene Page:EFHB
Summary?
| GeneID | 151651 |
| Symbol | EFHB |
| Synonyms | CFAP21 |
| Description | EF-hand domain family member B |
| Reference | HGNC:HGNC:26330|Ensembl:ENSG00000163576|HPRD:08054|Vega:OTTHUMG00000150505 |
| Gene type | protein-coding |
| Map location | 3p24.3 |
| Pascal p-value | 0.014 |
| eGene | Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Hippocampus Hypothalamus 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 | |
| GSMA_I | Genome scan meta-analysis | Psr: 0.006 |
Section I. Genetics and epigenetics annotation
eQTL annotation
eQTL annotation| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs4103004 | chr3 | 20042833 | EFHB | 151651 | 0.03 | cis | ||
| rs1578978 | chr8 | 118196802 | EFHB | 151651 | 0.07 | trans | ||
| rs6798420 | 3 | 19983360 | EFHB | ENSG00000163576.13 | 2.194E-7 | 0 | 5157 | gtex_brain_ba24 |
| rs71316239 | 3 | 19983631 | EFHB | ENSG00000163576.13 | 2.198E-7 | 0 | 4886 | gtex_brain_ba24 |
| rs7434271 | 3 | 19985778 | EFHB | ENSG00000163576.13 | 1.992E-7 | 0 | 2739 | gtex_brain_ba24 |
| rs4610240 | 3 | 19985955 | EFHB | ENSG00000163576.13 | 2.282E-7 | 0 | 2562 | gtex_brain_ba24 |
| rs13097697 | 3 | 19986489 | EFHB | ENSG00000163576.13 | 2.282E-7 | 0 | 2028 | gtex_brain_ba24 |
| rs1133328 | 3 | 19987539 | EFHB | ENSG00000163576.13 | 8.812E-14 | 0 | 978 | gtex_brain_ba24 |
| rs11128927 | 3 | 19988437 | EFHB | ENSG00000163576.13 | 3.266E-12 | 0 | 80 | gtex_brain_ba24 |
| rs11128928 | 3 | 19990813 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -2296 | gtex_brain_ba24 |
| rs17181400 | 3 | 19992137 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -3620 | gtex_brain_ba24 |
| rs59608170 | 3 | 19993083 | EFHB | ENSG00000163576.13 | 9.308E-7 | 0 | -4566 | gtex_brain_ba24 |
| rs13098388 | 3 | 19995799 | EFHB | ENSG00000163576.13 | 9.353E-7 | 0 | -7282 | gtex_brain_ba24 |
| rs11128929 | 3 | 19996373 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -7856 | gtex_brain_ba24 |
| rs68018818 | 3 | 20000934 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -12417 | gtex_brain_ba24 |
| rs34305656 | 3 | 20001837 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -13320 | gtex_brain_ba24 |
| rs13070135 | 3 | 20003188 | EFHB | ENSG00000163576.13 | 2.59E-6 | 0 | -14671 | gtex_brain_ba24 |
| rs13070536 | 3 | 20003189 | EFHB | ENSG00000163576.13 | 2.59E-6 | 0 | -14672 | gtex_brain_ba24 |
| rs7618928 | 3 | 20003809 | EFHB | ENSG00000163576.13 | 4.761E-7 | 0 | -15292 | gtex_brain_ba24 |
| rs17796115 | 3 | 20004260 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -15743 | gtex_brain_ba24 |
| rs13076973 | 3 | 20004455 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -15938 | gtex_brain_ba24 |
| rs12629485 | 3 | 20005281 | EFHB | ENSG00000163576.13 | 8.032E-7 | 0 | -16764 | gtex_brain_ba24 |
| rs35713165 | 3 | 20006346 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -17829 | gtex_brain_ba24 |
| rs13089853 | 3 | 20006903 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -18386 | gtex_brain_ba24 |
| rs7646128 | 3 | 20008994 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -20477 | gtex_brain_ba24 |
| rs7634934 | 3 | 20009231 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -20714 | gtex_brain_ba24 |
| rs7615145 | 3 | 20010037 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -21520 | gtex_brain_ba24 |
| rs6796425 | 3 | 20016593 | EFHB | ENSG00000163576.13 | 9.299E-7 | 0 | -28076 | gtex_brain_ba24 |
| rs13086159 | 3 | 20018135 | EFHB | ENSG00000163576.13 | 9.626E-7 | 0 | -29618 | gtex_brain_ba24 |
| rs17181862 | 3 | 20019470 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -30953 | gtex_brain_ba24 |
| rs1143451 | 3 | 20020154 | EFHB | ENSG00000163576.13 | 9.35E-7 | 0 | -31637 | gtex_brain_ba24 |
| rs35175665 | 3 | 20020861 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -32344 | gtex_brain_ba24 |
| rs11128930 | 3 | 20022050 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -33533 | gtex_brain_ba24 |
| rs34343204 | 3 | 20022595 | EFHB | ENSG00000163576.13 | 8.036E-7 | 0 | -34078 | gtex_brain_ba24 |
| rs77001658 | 3 | 20024269 | EFHB | ENSG00000163576.13 | 3.081E-7 | 0 | -35752 | gtex_brain_ba24 |
| rs11128931 | 3 | 20027708 | EFHB | ENSG00000163576.13 | 9.801E-7 | 0 | -39191 | gtex_brain_ba24 |
| rs34150278 | 3 | 20028612 | EFHB | ENSG00000163576.13 | 1.039E-6 | 0 | -40095 | gtex_brain_ba24 |
| rs34417128 | 3 | 20029081 | EFHB | ENSG00000163576.13 | 1.075 e-6 | 0 | -40564 | gtex_brain_ba24 |
| rs13078505 | 3 | 20029447 | EFHB | ENSG00000163576.13 | 9.47E-7 | 0 | -40930 | gtex_brain_ba24 |
| rs4103004 | 3 | 20042834 | EFHB | ENSG00000163576.13 | 1.808E-9 | 0 | -54317 | gtex_brain_ba24 |
| rs62279142 | 3 | 19965171 | EFHB | ENSG00000163576.13 | 1.899E-6 | 0 | 23346 | gtex_brain_putamen_basal |
| rs111345314 | 3 | 19965877 | EFHB | ENSG00000163576.13 | 2.443E-6 | 0 | 22640 | gtex_brain_putamen_basal |
| rs62279143 | 3 | 19966199 | EFHB | ENSG00000163576.13 | 2.465E-6 | 0 | 22318 | gtex_brain_putamen_basal |
| rs62279146 | 3 | 19967348 | EFHB | ENSG00000163576.13 | 1.869E-6 | 0 | 21169 | gtex_brain_putamen_basal |
| rs114995982 | 3 | 19969453 | EFHB | ENSG00000163576.13 | 2.032E-6 | 0 | 19064 | gtex_brain_putamen_basal |
| rs17180735 | 3 | 19973830 | EFHB | ENSG00000163576.13 | 1.848E-6 | 0 | 14687 | gtex_brain_putamen_basal |
| rs6798420 | 3 | 19983360 | EFHB | ENSG00000163576.13 | 4.521E-7 | 0 | 5157 | gtex_brain_putamen_basal |
| rs62280069 | 3 | 19983452 | EFHB | ENSG00000163576.13 | 1.561E-6 | 0 | 5065 | gtex_brain_putamen_basal |
| rs71316239 | 3 | 19983631 | EFHB | ENSG00000163576.13 | 4.514E-7 | 0 | 4886 | gtex_brain_putamen_basal |
| rs62241269 | 3 | 19984160 | EFHB | ENSG00000163576.13 | 1.56E-6 | 0 | 4357 | gtex_brain_putamen_basal |
| rs17181086 | 3 | 19985618 | EFHB | ENSG00000163576.13 | 1.554E-6 | 0 | 2899 | gtex_brain_putamen_basal |
| rs7434271 | 3 | 19985778 | EFHB | ENSG00000163576.13 | 6.527E-7 | 0 | 2739 | gtex_brain_putamen_basal |
| rs4610240 | 3 | 19985955 | EFHB | ENSG00000163576.13 | 4.496E-7 | 0 | 2562 | gtex_brain_putamen_basal |
| rs13097697 | 3 | 19986489 | EFHB | ENSG00000163576.13 | 4.496E-7 | 0 | 2028 | gtex_brain_putamen_basal |
| rs1133328 | 3 | 19987539 | EFHB | ENSG00000163576.13 | 3.729E-19 | 0 | 978 | gtex_brain_putamen_basal |
| rs11128927 | 3 | 19988437 | EFHB | ENSG00000163576.13 | 5.272E-19 | 0 | 80 | gtex_brain_putamen_basal |
| rs56070425 | 3 | 19991487 | EFHB | ENSG00000163576.13 | 7.784E-7 | 0 | -2970 | gtex_brain_putamen_basal |
| rs17181400 | 3 | 19992137 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -3620 | gtex_brain_putamen_basal |
| rs11717172 | 3 | 19992312 | EFHB | ENSG00000163576.13 | 7.428E-7 | 0 | -3795 | gtex_brain_putamen_basal |
| rs10510496 | 3 | 19992588 | EFHB | ENSG00000163576.13 | 7.317E-7 | 0 | -4071 | gtex_brain_putamen_basal |
| rs59608170 | 3 | 19993083 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -4566 | gtex_brain_putamen_basal |
| rs62241282 | 3 | 19993382 | EFHB | ENSG00000163576.13 | 7.011E-7 | 0 | -4865 | gtex_brain_putamen_basal |
| rs80185919 | 3 | 19993673 | EFHB | ENSG00000163576.13 | 6.905E-7 | 0 | -5156 | gtex_brain_putamen_basal |
| rs62241284 | 3 | 19995446 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -6929 | gtex_brain_putamen_basal |
| rs145524739 | 3 | 19995516 | EFHB | ENSG00000163576.13 | 2.378E-7 | 0 | -6999 | gtex_brain_putamen_basal |
| rs13098388 | 3 | 19995799 | EFHB | ENSG00000163576.13 | 3.089E-6 | 0 | -7282 | gtex_brain_putamen_basal |
| rs17181547 | 3 | 19999504 | EFHB | ENSG00000163576.13 | 1.371E-6 | 0 | -10987 | gtex_brain_putamen_basal |
| rs62241287 | 3 | 19999780 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -11263 | gtex_brain_putamen_basal |
| rs62241288 | 3 | 20000228 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -11711 | gtex_brain_putamen_basal |
| rs34305656 | 3 | 20001837 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -13320 | gtex_brain_putamen_basal |
| rs77093173 | 3 | 20002147 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -13630 | gtex_brain_putamen_basal |
| rs11715597 | 3 | 20003109 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -14592 | gtex_brain_putamen_basal |
| rs7618928 | 3 | 20003809 | EFHB | ENSG00000163576.13 | 2.743E-6 | 0 | -15292 | gtex_brain_putamen_basal |
| rs17796115 | 3 | 20004260 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -15743 | gtex_brain_putamen_basal |
| rs13076973 | 3 | 20004455 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -15938 | gtex_brain_putamen_basal |
| rs142063274 | 3 | 20006424 | EFHB | ENSG00000163576.13 | 6.624E-7 | 0 | -17907 | gtex_brain_putamen_basal |
| rs62241291 | 3 | 20006761 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -18244 | gtex_brain_putamen_basal |
| rs62241292 | 3 | 20007355 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -18838 | gtex_brain_putamen_basal |
| rs7646128 | 3 | 20008994 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -20477 | gtex_brain_putamen_basal |
| rs17796169 | 3 | 20009177 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -20660 | gtex_brain_putamen_basal |
| rs7634934 | 3 | 20009231 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -20714 | gtex_brain_putamen_basal |
| rs62241293 | 3 | 20009689 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -21172 | gtex_brain_putamen_basal |
| rs7615145 | 3 | 20010037 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -21520 | gtex_brain_putamen_basal |
| rs202101955 | 3 | 20010522 | EFHB | ENSG00000163576.13 | 5.116E-7 | 0 | -22005 | gtex_brain_putamen_basal |
| rs62241297 | 3 | 20012343 | EFHB | ENSG00000163576.13 | 4.924E-7 | 0 | -23826 | gtex_brain_putamen_basal |
| rs200346355 | 3 | 20012703 | EFHB | ENSG00000163576.13 | 6.647E-7 | 0 | -24186 | gtex_brain_putamen_basal |
| rs17796242 | 3 | 20013946 | EFHB | ENSG00000163576.13 | 4.929E-7 | 0 | -25429 | gtex_brain_putamen_basal |
| rs62241298 | 3 | 20014238 | EFHB | ENSG00000163576.13 | 4.929E-7 | 0 | -25721 | gtex_brain_putamen_basal |
| rs62241299 | 3 | 20014512 | EFHB | ENSG00000163576.13 | 4.929E-7 | 0 | -25995 | gtex_brain_putamen_basal |
| rs62241315 | 3 | 20015486 | EFHB | ENSG00000163576.13 | 5.376E-7 | 0 | -26969 | gtex_brain_putamen_basal |
| rs6796425 | 3 | 20016593 | EFHB | ENSG00000163576.13 | 3.064E-6 | 0 | -28076 | gtex_brain_putamen_basal |
| rs13086159 | 3 | 20018135 | EFHB | ENSG00000163576.13 | 2.535E-6 | 0 | -29618 | gtex_brain_putamen_basal |
| rs17181862 | 3 | 20019470 | EFHB | ENSG00000163576.13 | 1.438E-6 | 0 | -30953 | gtex_brain_putamen_basal |
| rs1143451 | 3 | 20020154 | EFHB | ENSG00000163576.13 | 3.09E-6 | 0 | -31637 | gtex_brain_putamen_basal |
| rs77001658 | 3 | 20024269 | EFHB | ENSG00000163576.13 | 1.714E-6 | 0 | -35752 | gtex_brain_putamen_basal |
| rs11128931 | 3 | 20027708 | EFHB | ENSG00000163576.13 | 3.198E-6 | 0 | -39191 | gtex_brain_putamen_basal |
| rs62241318 | 3 | 20028246 | EFHB | ENSG00000163576.13 | 5.352E-7 | 0 | -39729 | gtex_brain_putamen_basal |
| rs34417128 | 3 | 20029081 | EFHB | ENSG00000163576.13 | 3.422E-6 | 0 | -40564 | gtex_brain_putamen_basal |
| rs77731814 | 3 | 20029624 | EFHB | ENSG00000163576.13 | 5.718E-7 | 0 | -41107 | gtex_brain_putamen_basal |
| rs62241319 | 3 | 20031729 | EFHB | ENSG00000163576.13 | 6.48E-7 | 0 | -43212 | gtex_brain_putamen_basal |
| rs62241320 | 3 | 20032147 | EFHB | ENSG00000163576.13 | 6.677E-7 | 0 | -43630 | gtex_brain_putamen_basal |
| rs62241323 | 3 | 20033186 | EFHB | ENSG00000163576.13 | 7.3E-7 | 0 | -44669 | gtex_brain_putamen_basal |
| rs62241325 | 3 | 20036360 | EFHB | ENSG00000163576.13 | 1.039E-6 | 0 | -47843 | gtex_brain_putamen_basal |
| rs12497083 | 3 | 20037117 | EFHB | ENSG00000163576.13 | 1.14E-6 | 0 | -48600 | gtex_brain_putamen_basal |
| rs34914456 | 3 | 20041924 | EFHB | ENSG00000163576.13 | 4.086E-6 | 0 | -53407 | gtex_brain_putamen_basal |
| rs4103004 | 3 | 20042834 | EFHB | ENSG00000163576.13 | 1.067E-13 | 0 | -54317 | gtex_brain_putamen_basal |
| rs2948102 | 3 | 20045701 | EFHB | ENSG00000163576.13 | 2.028E-13 | 0 | -57184 | gtex_brain_putamen_basal |
| rs35662929 | 3 | 20046636 | EFHB | ENSG00000163576.13 | 4.04E-13 | 0 | -58119 | gtex_brain_putamen_basal |
| rs201933186 | 3 | 20046645 | EFHB | ENSG00000163576.13 | 9.781E-7 | 0 | -58128 | gtex_brain_putamen_basal |
| rs6802632 | 3 | 20053676 | EFHB | ENSG00000163576.13 | 3.866E-6 | 0 | -65159 | gtex_brain_putamen_basal |
| rs187314512 | 3 | 20054307 | EFHB | ENSG00000163576.13 | 3.866E-6 | 0 | -65790 | gtex_brain_putamen_basal |
| rs2929409 | 3 | 20055990 | EFHB | ENSG00000163576.13 | 1.692E-8 | 0 | -67473 | gtex_brain_putamen_basal |
| rs56232690 | 3 | 20058022 | EFHB | ENSG00000163576.13 | 3.825E-6 | 0 | -69505 | gtex_brain_putamen_basal |
| rs138694025 | 3 | 20062183 | EFHB | ENSG00000163576.13 | 3.787E-6 | 0 | -73666 | gtex_brain_putamen_basal |
| rs200174099 | 3 | 20062353 | EFHB | ENSG00000163576.13 | 3.792E-6 | 0 | -73836 | gtex_brain_putamen_basal |
| rs11720698 | 3 | 20063620 | EFHB | ENSG00000163576.13 | 3.772 e-6 | 0 | -75103 | gtex_brain_putamen_basal |
| rs6767657 | 3 | 20063773 | EFHB | ENSG00000163576.13 | 1.494E-9 | 0 | -75256 | gtex_brain_putamen_basal |
| rs74406340 | 3 | 20064599 | EFHB | ENSG00000163576.13 | 3.884E-6 | 0 | -76082 | gtex_brain_putamen_basal |
| rs17626752 | 3 | 20064998 | EFHB | ENSG00000163576.13 | 3.866E-6 | 0 | -76481 | gtex_brain_putamen_basal |
| rs55941927 | 3 | 20065978 | EFHB | ENSG00000163576.13 | 3.629E-6 | 0 | -77461 | gtex_brain_putamen_basal |
| rs11709453 | 3 | 20067661 | EFHB | ENSG00000163576.13 | 6.646E-7 | 0 | -79144 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
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:0005509 | calcium ion binding | IEA | - |
部分诉通路注释
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| SENGUPTA NASOPHARYNGEAL CARCINOMA DN | 349 | 157 | All SZGR 2.0 genes in this pathway |
| SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 DN | 175 | 82 | All SZGR 2.0 genes in this pathway |
| DODD NASOPHARYNGEAL CARCINOMA UP | 1821 | 933 | All SZGR 2.0 genes in this pathway |
| LIU SMARCA4 TARGETS | 64 | 39 | All SZGR 2.0 genes in this pathway |
| CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 | 473 | 224 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN ES ICP WITH H3K4ME3 | 718 | 401 | All SZGR 2.0 genes in this pathway |
| RAO BOUND BY SALL4 ISOFORM B | 517 | 302 | All SZGR 2.0 genes in this pathway |