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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 FAM184A |
 Gene summary |
| Gene information | Gene symbol | FAM184A | Gene ID | 79632 |
| Gene name | family with sequence similarity 184 member A | |
| Synonyms | C6orf60 | |
| Cytomap | 6q22.31 | |
| Type of gene | protein-coding | |
| Description | protein FAM184A | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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 FAM184A |
| 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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ENSG00000111879
| 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 |
| CB | DOWN | ENST00000517987.5 | FAM184A-209:protein_coding:FAM184A | 2.311799e+01 | -2.938011e+00 | 4.435585e-09 | 1.519542e-07 |
| CB | DOWN | ENST00000617072.4 | FAM184A-213:protein_coding:FAM184A | 6.058834e+01 | -9.425668e-01 | 1.491508e-04 | 1.040959e-03 |
| CB | DOWN | ENST00000521043.5 | FAM184A-210:protein_coding:FAM184A | 5.952677e+01 | -9.925628e-01 | 5.785358e-03 | 2.220233e-02 |
| CB | UP | ENST00000368475.8 | FAM184A-204:protein_coding:FAM184A | 7.832991e+01 | 1.040106e+00 | 6.659815e-03 | 2.489722e-02 |
| TC | DOWN | ENST00000517987.5 | FAM184A-209:protein_coding:FAM184A | 1.761327e+01 | -2.139510e+00 | 6.619229e-08 | 4.335912e-06 |
| 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 FAM184A |
| 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_12270 | chr6 | 118961929:118961963:118964667:118964771:118966835:118966952 | 118964667:118964771 |
| exon_skip_146782 | chr6 | 118961929:118961963:118966835:118966952:118975024:118975208 | 118966835:118966952 |
| exon_skip_173305 | chr6 | 118960769:118960863:118961761:118961963:118964667:118964771 | 118961761:118961963 |
| exon_skip_180553 | chr6 | 118960769:118960863:118961761:118961963:118964667:118964768 | 118961761:118961963 |
| exon_skip_183226 | chr6 | 118960103:118960184:118960769:118960863:118964667:118964771 | 118960769:118960863 |
| exon_skip_190989 | chr6 | 118961929:118961963:118964667:118964771:118966835:118966947 | 118964667:118964771 |
| exon_skip_221904 | chr6 | 118960103:118960184:118961761:118961963:118966835:118966952 | 118961761:118961963 |
| exon_skip_227019 | chr6 | 118966835:118966952:118974428:118974574:118975024:118975206 | 118974428:118974574 |
| exon_skip_231647 | chr6 | 118966835:118966952:118974428:118974574:118975024:118975208 | 118974428:118974574 |
| exon_skip_233903 | chr6 | 118959829:118960184:118961929:118961963:118964667:118964740 | 118961929:118961963 |
| exon_skip_234670 | chr6 | 118959830:118960184:118961929:118961996:118964667:118964740 | 118961929:118961996 |
| exon_skip_240686 | chr6 | 118960103:118960184:118961929:118961963:118964667:118964740 | 118961929:118961963 |
| exon_skip_263883 | chr6 | 119019978:119020159:119022945:119023080:119023959:119024813 | 119022945:119023080 |
| exon_skip_272747 | chr6 | 118961929:118961963:118966835:118966952:118974428:118974525 | 118966835:118966952 |
| exon_skip_277200 | chr6 | 118960103:118960184:118960769:118960863:118961761:118961954 | 118960769:118960863 |
| exon_skip_285998 | chr6 | 118960103:118960184:118961761:118961963:118966835:118966947 | 118961761:118961963 |
| exon_skip_293682 | chr6 | 119016747:119016944:119019978:119020159:119022945:119023080 | 119019978:119020159 |
| exon_skip_38968 | chr6 | 118960103:118960184:118961761:118961963:118964667:118964740 | 118961761:118961963 |
| exon_skip_46558 | chr6 | 118961929:118961963:118964667:118964771:118966835:118966944 | 118964667:118964771 |
| exon_skip_75535 | chr6 | 118960103:118960184:118961929:118961996:118964667:118964740 | 118961929:118961996 |
| exon_skip_77209 | chr6 | 118960103:118960184:118960769:118960863:118961761:118961963 | 118960769:118960863 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_231647 | MSBB_STG | 4.369388e-01 | 3.085714e-01 | 1.283673e-01 | 8.470926e-03 |
| exon_skip_227019 | Mayo_TC | 6.002439e-01 | 4.781818e-01 | 1.220621e-01 | 1.210538e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for FAM184A |
| 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 |
| ENST00000338891 | 118961761 | 118961963 | Frame-shift |
| ENST00000338891 | 119019978 | 119020159 | Frame-shift |
| ENST00000338891 | 119022945 | 119023080 | Frame-shift |
| ENST00000338891 | 118964667 | 118964771 | In-frame |
| ENST00000338891 | 118974428 | 118974574 | 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 |
| ENST00000338891 | 118961761 | 118961963 | Frame-shift |
| ENST00000338891 | 119019978 | 119020159 | Frame-shift |
| ENST00000338891 | 119022945 | 119023080 | Frame-shift |
| ENST00000338891 | 118964667 | 118964771 | In-frame |
| ENST00000338891 | 118974428 | 118974574 | In-frame |
| 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 |
| ENST00000338891 | 118961761 | 118961963 | Frame-shift |
| ENST00000338891 | 119019978 | 119020159 | Frame-shift |
| ENST00000338891 | 119022945 | 119023080 | Frame-shift |
| ENST00000338891 | 118964667 | 118964771 | In-frame |
| ENST00000338891 | 118974428 | 118974574 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM184A |
p-ENSG00000111879_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 |
| ENST00000338891 | 4158 | 1140 | 118974428 | 118974574 | 3213 | 3358 | 923 | 971 |
| ENST00000338891 | 4158 | 1140 | 118964667 | 118964771 | 3478 | 3581 | 1011 | 1045 |
| 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 |
| ENST00000338891 | 4158 | 1140 | 118974428 | 118974574 | 3213 | 3358 | 923 | 971 |
| ENST00000338891 | 4158 | 1140 | 118964667 | 118964771 | 3478 | 3581 | 1011 | 1045 |
| 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 |
| ENST00000338891 | 4158 | 1140 | 118974428 | 118974574 | 3213 | 3358 | 923 | 971 |
| ENST00000338891 | 4158 | 1140 | 118964667 | 118964771 | 3478 | 3581 | 1011 | 1045 |
| 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 |
| Q8NB25 | 923 | 971 | 924 | 972 | Alternative sequence | ID=VSP_007446;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q8NB25 | 923 | 971 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
| Q8NB25 | 1011 | 1045 | 1012 | 1046 | Alternative sequence | ID=VSP_007447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NB25 | 1011 | 1045 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
| 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 |
| Q8NB25 | 923 | 971 | 924 | 972 | Alternative sequence | ID=VSP_007446;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q8NB25 | 923 | 971 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
| Q8NB25 | 1011 | 1045 | 1012 | 1046 | Alternative sequence | ID=VSP_007447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NB25 | 1011 | 1045 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
| 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 |
| Q8NB25 | 923 | 971 | 924 | 972 | Alternative sequence | ID=VSP_007446;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q8NB25 | 923 | 971 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
| Q8NB25 | 1011 | 1045 | 1012 | 1046 | Alternative sequence | ID=VSP_007447;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NB25 | 1011 | 1045 | 1 | 1140 | Chain | ID=PRO_0000089512;Note=Protein FAM184A |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAM184A |
| 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 FAM184A |
| - 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 FAM184A |
| 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 FAM184A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_231647 | rs2884078 | chr6:119065019 | 2.325384e-04 | 1.835425e-02 |
| HCC | exon_skip_231647 | rs9374777 | chr6:119056334 | 2.629040e-04 | 2.026072e-02 |
| HCC | exon_skip_231647 | rs9401118 | chr6:119053584 | 3.895751e-04 | 2.782543e-02 |
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Correlation with RNA binding proteins (RBPs) for FAM184A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBFOX2 | exon_skip_231647 | -6.345103e-01 | 3.047742e-38 |
| DLPFC | RBM3 | exon_skip_231647 | -4.482448e-01 | 1.444225e-17 |
| DLPFC | KHDRBS2 | exon_skip_231647 | -5.769311e-01 | 2.081074e-30 |
| FL | RBFOX2 | exon_skip_231647 | -5.457760e-01 | 1.445621e-13 |
| FL | RBM3 | exon_skip_231647 | -5.373022e-01 | 4.014934e-13 |
| FL | KHDRBS3 | exon_skip_231647 | -4.214633e-01 | 3.863534e-08 |
| FL | HNRNPL | exon_skip_231647 | -4.638083e-01 | 9.495067e-10 |
| HCC | RBFOX2 | exon_skip_231647 | -4.033732e-01 | 5.010449e-12 |
| HCC | RBM3 | exon_skip_231647 | -4.379723e-01 | 3.967912e-14 |
| HCC | KHDRBS2 | exon_skip_231647 | -4.145582e-01 | 1.113604e-12 |
| PCC | RBM3 | exon_skip_12270 | -4.688464e-01 | 1.153449e-11 |
| PCC | G3BP2 | exon_skip_12270 | -4.217471e-01 | 1.662990e-09 |
| PCC | RBFOX2 | exon_skip_231647 | -5.329722e-01 | 8.276081e-17 |
| PCC | RBM3 | exon_skip_231647 | -5.519358e-01 | 3.856171e-18 |
| STG | RBFOX2 | exon_skip_231647 | -5.439472e-01 | 1.134592e-06 |
| STG | SRSF11 | exon_skip_231647 | -4.321287e-01 | 1.873072e-04 |
| STG | RBM3 | exon_skip_231647 | -5.371841e-01 | 1.630642e-06 |
| STG | KHDRBS2 | exon_skip_231647 | -4.646461e-01 | 5.075149e-05 |
| STG | KHDRBS3 | exon_skip_231647 | -4.691422e-01 | 4.192148e-05 |
| STG | NUP42 | exon_skip_231647 | -4.311969e-01 | 1.940789e-04 |
| STG | HNRNPL | exon_skip_231647 | -5.148622e-01 | 5.113293e-06 |
| STG | SRSF9 | exon_skip_231647 | -4.115362e-01 | 4.010790e-04 |
| STG | ZCRB1 | exon_skip_231647 | -4.168229e-01 | 3.313905e-04 |
| STG | NOVA1 | exon_skip_231647 | -4.149646e-01 | 3.545121e-04 |
| TC | RBFOX2 | exon_skip_277200 | -4.007042e-01 | 1.516810e-07 |
| TC | ELAVL4 | exon_skip_46558 | -4.680541e-01 | 4.938553e-10 |
| TC | RBM3 | exon_skip_46558 | -5.376566e-01 | 2.719565e-13 |
| TC | G3BP2 | exon_skip_46558 | -4.625217e-01 | 8.365892e-10 |
| TC | KHDRBS2 | exon_skip_46558 | -5.070910e-01 | 9.052906e-12 |
| TC | HNRNPA0 | exon_skip_46558 | -4.982348e-01 | 2.345650e-11 |
| TC | HNRNPDL | exon_skip_46558 | -4.113244e-01 | 7.203982e-08 |
| TC | HNRNPD | exon_skip_46558 | -4.484692e-01 | 3.061388e-09 |
| TC | RBM42 | exon_skip_46558 | -4.129727e-01 | 6.311736e-08 |
| TC | ESRP1 | exon_skip_46558 | -4.261443e-01 | 2.138156e-08 |
| TC | RBFOX2 | exon_skip_227019 | -5.361308e-01 | 3.267080e-13 |
| TC | RBM6 | exon_skip_227019 | 4.116170e-01 | 7.037228e-08 |
| TC | RBM3 | exon_skip_227019 | -6.395968e-01 | 1.143666e-19 |
| TC | KHDRBS2 | exon_skip_227019 | -5.991410e-01 | 7.260595e-17 |
| TC | KHDRBS3 | exon_skip_227019 | -4.580328e-01 | 1.274295e-09 |
| TC | RBM45 | exon_skip_227019 | -4.760503e-01 | 2.266973e-10 |
| TC | HNRNPD | exon_skip_227019 | -4.912304e-01 | 4.886327e-11 |
| TC | NUP42 | exon_skip_227019 | -5.635477e-01 | 1.045797e-14 |
| TC | NOVA1 | exon_skip_227019 | -7.033894e-01 | 4.765998e-25 |
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RelatedDrugs for FAM184A |
| 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 FAM184A |
| 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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