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Gene: MAMLD1 |
Gene summary for MAMLD1 |
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Gene information | Species | Human | Gene symbol | MAMLD1 | Gene ID | 10046 |
Gene name | mastermind like domain containing 1 | |
Gene Alias | CG1 | |
Cytomap | Xq28 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q13495 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10046 | MAMLD1 | HCC1 | Human | Liver | HCC | 4.41e-08 | 2.17e+00 | 0.5336 |
10046 | MAMLD1 | S027 | Human | Liver | HCC | 1.34e-06 | 5.25e-01 | 0.2446 |
10046 | MAMLD1 | S028 | Human | Liver | HCC | 4.50e-07 | 3.51e-01 | 0.2503 |
10046 | MAMLD1 | S029 | Human | Liver | HCC | 2.84e-06 | 3.16e-01 | 0.2581 |
10046 | MAMLD1 | 047563_1562-all-cells | Human | Prostate | BPH | 7.60e-06 | 3.10e-01 | 0.0791 |
10046 | MAMLD1 | 048752_1579-all-cells | Human | Prostate | BPH | 2.61e-31 | 6.03e-01 | 0.1008 |
10046 | MAMLD1 | 052095_1628-all-cells | Human | Prostate | BPH | 1.46e-06 | 2.32e-01 | 0.1032 |
10046 | MAMLD1 | 052097_1595-all-cells | Human | Prostate | BPH | 1.84e-27 | 5.32e-01 | 0.0972 |
10046 | MAMLD1 | 052099_1652-all-cells | Human | Prostate | BPH | 2.00e-11 | 2.96e-01 | 0.1038 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease | ||
Prostate | ![]() | BPH: Benign Prostatic Hyperplasia |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Thyroid | PTC | ![]() |
Thyroid | goiters | ![]() |
Thyroid | ATC | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006145811 | Liver | HCC | reproductive system development | 205/7958 | 427/18723 | 1.16e-02 | 4.27e-02 | 205 |
GO:006145810 | Prostate | BPH | reproductive system development | 126/3107 | 427/18723 | 1.35e-11 | 9.95e-10 | 126 |
GO:004860810 | Prostate | BPH | reproductive structure development | 124/3107 | 424/18723 | 3.76e-11 | 2.43e-09 | 124 |
GO:00085844 | Prostate | BPH | male gonad development | 42/3107 | 141/18723 | 6.69e-05 | 6.62e-04 | 42 |
GO:00465464 | Prostate | BPH | development of primary male sexual characteristics | 42/3107 | 142/18723 | 8.00e-05 | 7.66e-04 | 42 |
GO:00466614 | Prostate | BPH | male sex differentiation | 47/3107 | 165/18723 | 8.70e-05 | 8.22e-04 | 47 |
GO:00084063 | Prostate | BPH | gonad development | 58/3107 | 221/18723 | 1.73e-04 | 1.48e-03 | 58 |
GO:00451373 | Prostate | BPH | development of primary sexual characteristics | 58/3107 | 227/18723 | 3.67e-04 | 2.71e-03 | 58 |
GO:00075483 | Prostate | BPH | sex differentiation | 68/3107 | 276/18723 | 3.75e-04 | 2.76e-03 | 68 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
MAMLD1 | SNV | Missense_Mutation | c.1585N>T | p.Pro529Ser | p.P529S | Q13495 | protein_coding | deleterious(0.05) | possibly_damaging(0.791) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | |
MAMLD1 | SNV | Missense_Mutation | novel | c.2404N>A | p.Asp802Asn | p.D802N | Q13495 | protein_coding | deleterious(0.05) | possibly_damaging(0.648) | TCGA-AC-A3EH-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MAMLD1 | SNV | Missense_Mutation | c.1120N>A | p.Leu374Met | p.L374M | Q13495 | protein_coding | tolerated(0.08) | benign(0.127) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAMLD1 | SNV | Missense_Mutation | c.626N>T | p.Ala209Val | p.A209V | Q13495 | protein_coding | tolerated(1) | benign(0.001) | TCGA-D8-A146-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MAMLD1 | SNV | Missense_Mutation | novel | c.1816N>C | p.Asp606His | p.D606H | Q13495 | protein_coding | deleterious(0) | possibly_damaging(0.639) | TCGA-LL-A5YO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
MAMLD1 | SNV | Missense_Mutation | novel | c.2428C>A | p.Pro810Thr | p.P810T | Q13495 | protein_coding | tolerated(0.14) | benign(0) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
MAMLD1 | SNV | Missense_Mutation | novel | c.7G>A | p.Asp3Asn | p.D3N | Q13495 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.919) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
MAMLD1 | insertion | Frame_Shift_Ins | novel | c.881_882insAAAG | p.Gln296LysfsTer59 | p.Q296Kfs*59 | Q13495 | protein_coding | TCGA-BH-A0C7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR | ||
MAMLD1 | SNV | Missense_Mutation | novel | c.1121N>C | p.Leu374Pro | p.L374P | Q13495 | protein_coding | tolerated(0.16) | possibly_damaging(0.838) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MAMLD1 | SNV | Missense_Mutation | novel | c.1682N>A | p.Ala561Asp | p.A561D | Q13495 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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