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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for FERMT2 |
 Gene summary |
| Gene information | Gene symbol | FERMT2 | Gene ID | 10979 |
| Gene name | fermitin family member 2 | |
| Synonyms | KIND2|MIG2|PLEKHC1|UNC112|UNC112B|mig-2 | |
| Cytomap | 14q22.1 | |
| Type of gene | protein-coding | |
| Description | fermitin family homolog 2PH domain-containing family C member 1kindlin 2mitogen inducible gene 2 proteinpleckstrin homology domain containing, family C (with FERM domain) member 1pleckstrin homology domain containing, family C member 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30371777(Candidate-based Screening via Gene Modulation in Human Neurons and Astrocytes Implicates FERMT2 in Aβ and TAU Proteostasis) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for FERMT2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000073712
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000555546.5 | FERMT2-211:retained_intron:FERMT2 | 2.340739e+01 | 1.345248e+00 | 8.577569e-08 | 4.738600e-05 |
| STG | UP | ENST00000399304.7 | FERMT2-204:protein_coding:FERMT2 | 8.218120e+00 | 4.943812e+00 | 1.219693e-03 | 4.262126e-02 |
| CB | DOWN | ENST00000555546.5 | FERMT2-211:retained_intron:FERMT2 | 3.102250e+02 | -9.238874e-01 | 1.071940e-09 | 4.622119e-08 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FERMT2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106391 | chr14 | 52893376:52893427:52919123:52919356:52950412:52950568 | 52919123:52919356 |
| exon_skip_118706 | chr14 | 52860341:52860465:52861014:52861034:52861587:52861610 | 52861014:52861034 |
| exon_skip_136836 | chr14 | 52861014:52861034:52861587:52861610:52864401:52864521 | 52861587:52861610 |
| exon_skip_138684 | chr14 | 52860341:52860465:52861014:52861034:52864401:52864521 | 52861014:52861034 |
| exon_skip_175939 | chr14 | 52874177:52874226:52875223:52875357:52878582:52878689 | 52875223:52875357 |
| exon_skip_201457 | chr14 | 52881244:52881469:52881796:52881828:52893293:52893333 | 52881796:52881828 |
| exon_skip_237731 | chr14 | 52881244:52881469:52893293:52893427:52919123:52919339 | 52893293:52893427 |
| exon_skip_92127 | chr14 | 52919123:52919356:52948562:52948580:52950412:52950577 | 52948562:52948580 |
| exon_skip_95442 | chr14 | 52864747:52864853:52872799:52872923:52874177:52874226 | 52872799:52872923 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for FERMT2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000341590 | 52919123 | 52919356 | In-frame |
| ENST00000395631 | 52919123 | 52919356 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000341590 | 52872799 | 52872923 | Frame-shift |
| ENST00000395631 | 52872799 | 52872923 | Frame-shift |
| ENST00000341590 | 52875223 | 52875357 | In-frame |
| ENST00000395631 | 52875223 | 52875357 | In-frame |
| ENST00000341590 | 52893293 | 52893427 | In-frame |
| ENST00000395631 | 52893293 | 52893427 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FERMT2 |
p-ENSG00000073712_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000341590 | 3355 | 680 | 52919123 | 52919356 | 344 | 576 | 52 | 130 |
| ENST00000395631 | 3386 | 680 | 52919123 | 52919356 | 375 | 607 | 52 | 130 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000341590 | 3355 | 680 | 52893293 | 52893427 | 578 | 711 | 130 | 175 |
| ENST00000395631 | 3386 | 680 | 52893293 | 52893427 | 609 | 742 | 130 | 175 |
| ENST00000341590 | 3355 | 680 | 52875223 | 52875357 | 1150 | 1283 | 321 | 365 |
| ENST00000395631 | 3386 | 680 | 52875223 | 52875357 | 1181 | 1314 | 321 | 365 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q96AC1 | 52 | 130 | 58 | 65 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Q96AC1 | 52 | 130 | 58 | 65 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Q96AC1 | 52 | 130 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 52 | 130 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 52 | 130 | 79 | 82 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Q96AC1 | 52 | 130 | 79 | 82 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Q96AC1 | 52 | 130 | 74 | 81 | Mutagenesis | Note=Abolishes lipid-binding via the N-terminus%3B when associated with A-40. KTHWTLDK->ATAATLDA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22078565;Dbxref=PMID:22078565 |
| Q96AC1 | 52 | 130 | 74 | 81 | Mutagenesis | Note=Abolishes lipid-binding via the N-terminus%3B when associated with A-40. KTHWTLDK->ATAATLDA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22078565;Dbxref=PMID:22078565 |
| Q96AC1 | 52 | 130 | 40 | 81 | Region | Note=Interaction with membranes containing phosphatidylinositol phosphate |
| Q96AC1 | 52 | 130 | 40 | 81 | Region | Note=Interaction with membranes containing phosphatidylinositol phosphate |
| Q96AC1 | 52 | 130 | 66 | 68 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Q96AC1 | 52 | 130 | 66 | 68 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LGX |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q96AC1 | 130 | 175 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 130 | 175 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 130 | 175 | 159 | 159 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q96AC1 | 130 | 175 | 159 | 159 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q96AC1 | 321 | 365 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 321 | 365 | 1 | 680 | Chain | ID=PRO_0000219456;Note=Fermitin family homolog 2 |
| Q96AC1 | 321 | 365 | 189 | 661 | Domain | Note=FERM |
| Q96AC1 | 321 | 365 | 189 | 661 | Domain | Note=FERM |
| Q96AC1 | 321 | 365 | 354 | 357 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSU |
| Q96AC1 | 321 | 365 | 354 | 357 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSU |
| Q96AC1 | 321 | 365 | 339 | 339 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q96AC1 | 321 | 365 | 339 | 339 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q96AC1 | 321 | 365 | 351 | 351 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569 |
| Q96AC1 | 321 | 365 | 351 | 351 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569 |
| Q96AC1 | 321 | 365 | 347 | 353 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSU |
| Q96AC1 | 321 | 365 | 347 | 353 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSU |
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3'-UTR located exon skipping events that lost miRNA binding sites in FERMT2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for FERMT2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for FERMT2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FERMT2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for FERMT2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_201457 | 5.633036e-01 | 1.108634e-13 |
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RelatedDrugs for FERMT2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FERMT2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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