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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C1orf167-MTHFR (FusionGDB2 ID:HG284498TG4524)

Fusion Gene Summary for C1orf167-MTHFR

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf167-MTHFR
Fusion gene ID: hg284498tg4524
HgeneTgene
Gene symbol

C1orf167

MTHFR

Gene ID

284498

4524

Gene namechromosome 1 open reading frame 167methylenetetrahydrofolate reductase
Synonyms--
Cytomap('C1orf167')('MTHFR')

1p36.22

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C1orf167methylenetetrahydrofolate reductase5,10-methylenetetrahydrofolate reductase (NADPH)methylenetetrahydrofolate reductase (NAD(P)H)
Modification date2020032720200320
UniProtAcc

Q5SNV9

P42898

Ensembl transtripts involved in fusion geneENST00000433342, ENST00000435090, 
ENST00000484153, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: C1orf167 [Title/Abstract] AND MTHFR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1orf167(11848489)-MTHFR(11848514), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMTHFR

GO:0031060

regulation of histone methylation

24769206

TgeneMTHFR

GO:0035999

tetrahydrofolate interconversion

12673793

TgeneMTHFR

GO:0050667

homocysteine metabolic process

20031578

TgeneMTHFR

GO:0070829

heterochromatin maintenance

24769206



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for C1orf167-MTHFR

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for C1orf167-MTHFR


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for C1orf167-MTHFR


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:11848489/:11848514)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf167

Q5SNV9

MTHFR

P42898

FUNCTION: Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. {ECO:0000269|PubMed:25736335}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for C1orf167-MTHFR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for C1orf167-MTHFR


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for C1orf167-MTHFR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMTHFRP42898DB00115CyanocobalaminCofactorSmall moleculeApproved|Nutraceutical

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Related Diseases for C1orf167-MTHFR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1856058HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY16CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC0013221Drug toxicity11CTD_human
TgeneC0041755Adverse reaction to drug11CTD_human
TgeneC0598608Hyperhomocysteinemia11CTD_human
TgeneC0009402Colorectal Carcinoma8CTD_human
TgeneC0009404Colorectal Neoplasms8CTD_human
TgeneC1856059Mthfr Deficiency, Thermolabile Type7CLINGEN
TgeneC1856061Methylenetetrahydrofolate reductase deficiency7CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneC0011581Depressive disorder6CTD_human;PSYGENET
TgeneC0041696Unipolar Depression6CTD_human;PSYGENET
TgeneC0001969Alcoholic Intoxication5PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0013080Down Syndrome4CTD_human
TgeneC0432416Down Syndrome, Partial Trisomy 214CTD_human
TgeneC0432417Trisomy 21, Meiotic Nondisjunction4CTD_human
TgeneC0525045Mood Disorders4PSYGENET
TgeneC0751081Trisomy 21, Mitotic Nondisjunction4CTD_human
TgeneC0036341Schizophrenia3CTD_human
TgeneC0038454Cerebrovascular accident3CTD_human
TgeneC0751956Acute Cerebrovascular Accidents3CTD_human
TgeneC0002871Anemia2CTD_human
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0007222Cardiovascular Diseases2CTD_human
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0024623Malignant neoplasm of stomach2CTD_human
TgeneC0038356Stomach Neoplasms2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0001723Affective Disorders, Psychotic1PSYGENET
TgeneC0002170Alopecia1CTD_human
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0002902Anencephaly1ORPHANET
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005587Depression, Bipolar1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0009081Congenital clubfoot1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0010068Coronary heart disease1CTD_human
TgeneC0010346Crohn Disease1CTD_human
TgeneC0011057Hearing Loss, Sudden1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011609Drug Eruptions1CTD_human
TgeneC0011875Diabetic Angiopathies1CTD_human
TgeneC0011999Diastematomyelia1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0017178Gastrointestinal Diseases1CTD_human
TgeneC0018133Graft-vs-Host Disease1CTD_human
TgeneC0018798Congenital Heart Defects1CTD_human
TgeneC0018939Hematological Disease1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023434Chronic Lymphocytic Leukemia1CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023530Leukopenia1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024299Lymphoma1CTD_human
TgeneC0024301Lymphoma, Follicular1CTD_human
TgeneC0024302Reticulosarcoma1CTD_human
TgeneC0024304Lymphoma, Mixed-Cell1CTD_human
TgeneC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneC0024306Lymphoma, Undifferentiated1CTD_human
TgeneC0024713Manic Disorder1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0025312Meningomyelocele1CTD_human
TgeneC0025945Microangiopathy, Diabetic1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0027794Neural Tube Defects1CTD_human
TgeneC0027806Neurenteric Cyst1CTD_human
TgeneC0027947Neutropenia1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0034065Pulmonary Embolism1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0037198Sinus Thrombosis, Intracranial1CTD_human
TgeneC0037274Dermatologic disorders1CTD_human
TgeneC0037928Spinal Cord Diseases1CTD_human
TgeneC0038219Status Dysraphicus1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0040034Thrombocytopenia1CTD_human
TgeneC0040156Thyrotoxicosis1CTD_human
TgeneC0042373Vascular Diseases1CTD_human
TgeneC0042487Venous Thrombosis1CTD_human
TgeneC0079740High Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079741Lymphoma, Intermediate-Grade1CTD_human
TgeneC0079745Lymphoma, Large-Cell, Follicular1CTD_human
TgeneC0079747Low Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
TgeneC0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
TgeneC0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
TgeneC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
TgeneC0080178Spina Bifida1CTD_human
TgeneC0080218Tethered Cord Syndrome1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0086664Myelocele1CTD_human
TgeneC0086873Pseudopelade1CTD_human
TgeneC0149871Deep Vein Thrombosis1CTD_human
TgeneC0152234Iniencephaly1CTD_human
TgeneC0152426Craniorachischisis1CTD_human
TgeneC0156147Crohn's disease of large bowel1CTD_human
TgeneC0162311Androgenetic Alopecia1CTD_human
TgeneC0162429Malnutrition1CTD_human
TgeneC0206064Microvascular Angina1CTD_human
TgeneC0206708Cervical Intraepithelial Neoplasia1CTD_human
TgeneC0221074Depression, Postpartum1PSYGENET
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0263477Female pattern alopecia (disorder)1CTD_human
TgeneC0266453Exencephaly1CTD_human
TgeneC0266508Rachischisis1CTD_human
TgeneC0267380Crohn's disease of the ileum1CTD_human
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0311375Arsenic Poisoning1CTD_human
TgeneC0333355Inflammatory disease of mucous membrane1CTD_human
TgeneC0338831Manic1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0344479Spinal Cord Myelodysplasia1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0398623Thrombophilia1CTD_human
TgeneC0406537Morbilliform Drug Reaction1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0524702Pulmonary Thromboembolisms1CTD_human
TgeneC0524948Maxillofacial Abnormalities1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0559031Functional Gastrointestinal Disorders1CTD_human
TgeneC0678202Regional enteritis1CTD_human
TgeneC0702169Acrania1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0751316Acquired Meningomyelocele1CTD_human
TgeneC0751500Petrous Sinus Thrombophlebitis1CTD_human
TgeneC0751501Intracranial Sinus Thrombophlebitis1CTD_human
TgeneC0751502Petrous Sinus Thrombosis1CTD_human
TgeneC0751851Arsenic Encephalopathy1CTD_human
TgeneC0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0851140Carcinoma in situ of uterine cervix1CTD_human
TgeneC0852077Blood Coagulation Disorders, Inherited1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0920269Microsatellite Instability1CTD_human
TgeneC0948480Coronary Restenosis1CTD_human
TgeneC0949272IIeocolitis1CTD_human
TgeneC1148477Deafness, Sudden1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC1565321Cholera Infantum1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1721098Replication Error Phenotype1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC1956130Lymphoma, Follicular, Grade 11CTD_human
TgeneC1956131Lymphoma, Follicular, Grade 31CTD_human
TgeneC1956132Lymphoma, Follicular, Grade 21CTD_human
TgeneC1960883Spina bifida aperta of cervical spine1ORPHANET
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC3714542Lymphoma, Diffuse1CTD_human
TgeneC4017062HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY1GENOMICS_ENGLAND
TgeneC4048328cervical cancer1CTD_human
TgeneC4083212Alopecia, Male Pattern1CTD_human
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human