Gene Page: PRPF40A
Summary ?
| GeneID | 55660 |
| Symbol | PRPF40A |
| Synonyms | FBP-11|FBP11|FLAF1|FNBP3|HIP-10|HIP10|HYPA|NY-REN-6|Prp40 |
| Description | pre-mRNA processing factor 40 homolog A |
| Reference | MIM:612941|HGNC:HGNC:16463|Ensembl:ENSG00000196504|Vega:OTTHUMG00000154031 |
| Gene type | protein-coding |
| Map location | 2q23.3 |
| Pascal p-value | 2.395E-4 |
| Support | Ascano FMRP targets |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.02395 | |
| Expression | Meta-analysis of gene expression | P value: 2 | |
| Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.1276 |
Section I. Genetics and epigenetics annotation
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:0005515 | protein binding | IPI | 15383276 |17353931 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006397 | mRNA processing | IEA | - | |
| GO:0008380 | RNA splicing | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005634 | nucleus | IEA | - | |
| GO:0016607 | nuclear speck | IEA | - |
Section IV. Protein-protein interaction annotation
| Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
|---|---|---|---|---|---|
| CHD3 | Mi-2a | Mi2-ALPHA | ZFH | chromodomain helicase DNA binding protein 3 | - | HPRD | 15383276 |
| CUL1 | MGC149834 | MGC149835 | cullin 1 | - | HPRD | 14603323 |
| FASLG | APT1LG1 | CD178 | CD95L | FASL | TNFSF6 | Fas ligand (TNF superfamily, member 6) | - | HPRD | 11741599 |
| FMN1 | DKFZp686C2281 | DKFZp686G2387 | FLJ45135 | FMN | LD | MGC125288 | MGC125289 | formin 1 | Protein-peptide | BioGRID | 11604498 |
| FMNL3 | DKFZp762B245 | FHOD3 | FLJ45265 | MGC45819 | WBP3 | formin-like 3 | - | HPRD,BioGRID | 9171351 |
| HNRNPUL1 | E1B-AP5 | E1BAP5 | FLJ12944 | HNRPUL1 | heterogeneous nuclear ribonucleoprotein U-like 1 | Two-hybrid | BioGRID | 16169070 |
| HTT | HD | IT15 | huntingtin | - | HPRD,BioGRID | 9700202 |
| HTT | HD | IT15 | huntingtin | Huntingtin interacts with HYPA | BIND | 9700202 |
| MAP1LC3A | LC3 | LC3A | MAP1ALC3 | MAP1BLC3 | microtubule-associated protein 1 light chain 3 alpha | - | HPRD | 15383276 |
| MECP2 | AUTSX3 | DKFZp686A24160 | MRX16 | MRX79 | MRXS13 | MRXSL | PPMX | RTS | RTT | methyl CpG binding protein 2 (Rett syndrome) | - | HPRD,BioGRID | 9171351 |
| MLL4 | HRX2 | KIAA0304 | MLL2 | TRX2 | WBP7 | myeloid/lymphoid or mixed-lineage leukemia 4 | - | HPRD | 9171351 |
| PIAS4 | FLJ12419 | MGC35296 | PIASY | Piasg | ZMIZ6 | protein inhibitor of activated STAT, 4 | - | HPRD | 15383276 |
| RNPS1 | E5.1 | MGC117332 | RNA binding protein S1, serine-rich domain | Affinity Capture-MS | BioGRID | 17353931 |
| RNU1A | HU1-1 | RNU1 | RNU1G4 | Rnu1a1 | U1 | RNA, U1A small nuclear | Affinity Capture-RNA | BioGRID | 15456888 |
| RNU2-1 | RNU2 | U2 | RNA, U2 small nuclear 1 | Affinity Capture-RNA | BioGRID | 15456888 |
| SERPINB9 | CAP-3 | CAP3 | PI9 | serpin peptidase inhibitor, clade B (ovalbumin), member 9 | Two-hybrid | BioGRID | 16169070 |
| SF1 | D11S636 | ZFM1 | ZNF162 | splicing factor 1 | - | HPRD | 15456888 |
| SRPK2 | FLJ36101 | SFRSK2 | SFRS protein kinase 2 | - | HPRD | 9171351 |
| U2AF2 | U2AF65 | U2 small nuclear RNA auxiliary factor 2 | - | HPRD | 15456888 |
| WASL | DKFZp779G0847 | MGC48327 | N-WASP | NWASP | Wiskott-Aldrich syndrome-like | - | HPRD | 14697212 |
| WBP11 | DKFZp779M1063 | NPWBP | SIPP1 | WW domain binding protein 11 | - | HPRD | 10744724 |
| WBP5 | DKFZp313K1940 | TCEAL9 | WW domain binding protein 5 | - | HPRD,BioGRID | 9171351 |
| YWHAG | 14-3-3GAMMA | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide | - | HPRD | 15324660 |
| ZFHX3 | ATBF1 | ATBT | zinc finger homeobox 3 | - | HPRD,BioGRID | 9171351 |
| ZHX1 | - | zinc fingers and homeoboxes 1 | - | HPRD | 15383276 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG SPLICEOSOME | 128 | 72 | All SZGR 2.0 genes in this pathway |
| WANG LMO4 TARGETS DN | 352 | 225 | All SZGR 2.0 genes in this pathway |
| WANG CLIM2 TARGETS DN | 186 | 114 | All SZGR 2.0 genes in this pathway |
| OSMAN BLADDER CANCER UP | 404 | 246 | All SZGR 2.0 genes in this pathway |
| KINSEY TARGETS OF EWSR1 FLII FUSION UP | 1278 | 748 | All SZGR 2.0 genes in this pathway |
| KIM WT1 TARGETS DN | 459 | 276 | All SZGR 2.0 genes in this pathway |
| DODD NASOPHARYNGEAL CARCINOMA DN | 1375 | 806 | All SZGR 2.0 genes in this pathway |
| RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP | 633 | 376 | All SZGR 2.0 genes in this pathway |
| RODRIGUES THYROID CARCINOMA ANAPLASTIC UP | 722 | 443 | All SZGR 2.0 genes in this pathway |
| MARTORIATI MDM4 TARGETS FETAL LIVER DN | 514 | 319 | All SZGR 2.0 genes in this pathway |
| PUJANA BRCA1 PCC NETWORK | 1652 | 1023 | All SZGR 2.0 genes in this pathway |
| PUJANA ATM PCC NETWORK | 1442 | 892 | All SZGR 2.0 genes in this pathway |
| NUYTTEN EZH2 TARGETS DN | 1024 | 594 | 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 |
| WEI MYCN TARGETS WITH E BOX | 795 | 478 | All SZGR 2.0 genes in this pathway |
| SCHAEFFER PROSTATE DEVELOPMENT 6HR DN | 514 | 330 | All SZGR 2.0 genes in this pathway |
| SCHAEFFER PROSTATE DEVELOPMENT AND CANCER BOX1 UP | 15 | 10 | All SZGR 2.0 genes in this pathway |
| SCHAEFFER PROSTATE DEVELOPMENT AND CANCER BOX4 DN | 32 | 22 | All SZGR 2.0 genes in this pathway |
| BENPORATH ES 1 | 379 | 235 | All SZGR 2.0 genes in this pathway |
| IIZUKA LIVER CANCER PROGRESSION G1 G2 DN | 25 | 18 | All SZGR 2.0 genes in this pathway |
| PENG LEUCINE DEPRIVATION DN | 187 | 122 | All SZGR 2.0 genes in this pathway |
| FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN | 546 | 351 | All SZGR 2.0 genes in this pathway |
| PENG RAPAMYCIN RESPONSE DN | 245 | 154 | All SZGR 2.0 genes in this pathway |
| PENG GLUTAMINE DEPRIVATION DN | 337 | 230 | 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 |
| LEI MYB TARGETS | 318 | 215 | All SZGR 2.0 genes in this pathway |
| LI WILMS TUMOR VS FETAL KIDNEY 1 DN | 163 | 115 | All SZGR 2.0 genes in this pathway |
| IVANOVA HEMATOPOIESIS EARLY PROGENITOR | 532 | 309 | All SZGR 2.0 genes in this pathway |
| BLALOCK ALZHEIMERS DISEASE INCIPIENT UP | 390 | 242 | All SZGR 2.0 genes in this pathway |
| BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | All SZGR 2.0 genes in this pathway |
| MARSON BOUND BY FOXP3 STIMULATED | 1022 | 619 | All SZGR 2.0 genes in this pathway |
| MARSON BOUND BY FOXP3 UNSTIMULATED | 1229 | 713 | All SZGR 2.0 genes in this pathway |
| FUJII YBX1 TARGETS DN | 202 | 132 | All SZGR 2.0 genes in this pathway |
| SHAFFER IRF4 TARGETS IN ACTIVATED B LYMPHOCYTE | 81 | 66 | All SZGR 2.0 genes in this pathway |
| MILI PSEUDOPODIA HAPTOTAXIS UP | 518 | 299 | All SZGR 2.0 genes in this pathway |
| ROME INSULIN TARGETS IN MUSCLE DN | 204 | 114 | All SZGR 2.0 genes in this pathway |
| YAGI AML WITH T 8 21 TRANSLOCATION | 368 | 247 | All SZGR 2.0 genes in this pathway |
| YAGI AML WITH INV 16 TRANSLOCATION | 422 | 277 | All SZGR 2.0 genes in this pathway |
| FOURNIER ACINAR DEVELOPMENT LATE 2 | 277 | 172 | All SZGR 2.0 genes in this pathway |
| CHANDRAN METASTASIS DN | 306 | 191 | All SZGR 2.0 genes in this pathway |
| LI DCP2 BOUND MRNA | 89 | 57 | All SZGR 2.0 genes in this pathway |
| JOHNSTONE PARVB TARGETS 3 DN | 918 | 550 | All SZGR 2.0 genes in this pathway |
| BRUINS UVC RESPONSE LATE | 1137 | 655 | All SZGR 2.0 genes in this pathway |
| PASINI SUZ12 TARGETS DN | 315 | 215 | All SZGR 2.0 genes in this pathway |
| LEE BMP2 TARGETS DN | 882 | 538 | All SZGR 2.0 genes in this pathway |
| WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D | 658 | 397 | All SZGR 2.0 genes in this pathway |