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Gene: SORL1 |
Gene summary for SORL1 |
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Gene information | Species | Human | Gene symbol | SORL1 | Gene ID | 6653 |
Gene name | sortilin related receptor 1 | |
Gene Alias | C11orf32 | |
Cytomap | 11q24.1 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A024R3H2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6653 | SORL1 | CA_HPV_2 | Human | Cervix | CC | 4.09e-02 | -3.72e-01 | 0.0391 |
6653 | SORL1 | CA_HPV_3 | Human | Cervix | CC | 1.42e-09 | -3.26e-01 | 0.0414 |
6653 | SORL1 | N_HPV_1 | Human | Cervix | N_HPV | 6.72e-06 | -4.26e-01 | 0.0079 |
6653 | SORL1 | N_HPV_2 | Human | Cervix | N_HPV | 1.84e-02 | -1.68e-01 | -0.0131 |
6653 | SORL1 | CCI_1 | Human | Cervix | CC | 1.15e-03 | -5.73e-01 | 0.528 |
6653 | SORL1 | CCII_1 | Human | Cervix | CC | 4.24e-11 | -6.02e-01 | 0.3249 |
6653 | SORL1 | Tumor | Human | Cervix | CC | 1.54e-07 | -4.53e-01 | 0.1241 |
6653 | SORL1 | sample1 | Human | Cervix | CC | 2.76e-11 | -6.14e-01 | 0.0959 |
6653 | SORL1 | sample3 | Human | Cervix | CC | 6.79e-09 | -4.11e-01 | 0.1387 |
6653 | SORL1 | L1 | Human | Cervix | CC | 7.48e-07 | -5.13e-01 | 0.0802 |
6653 | SORL1 | T1 | Human | Cervix | CC | 5.26e-19 | -5.89e-01 | 0.0918 |
6653 | SORL1 | T3 | Human | Cervix | CC | 1.17e-06 | -3.97e-01 | 0.1389 |
6653 | SORL1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.38e-11 | 8.42e-01 | -0.0811 |
6653 | SORL1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.85e-02 | 4.46e-01 | -0.1088 |
6653 | SORL1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.62e-23 | 9.15e-01 | -0.1954 |
6653 | SORL1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.41e-03 | 9.47e-01 | -0.2602 |
6653 | SORL1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.43e-03 | 6.84e-01 | -0.2061 |
6653 | SORL1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.15e-07 | 6.49e-01 | 0.0588 |
6653 | SORL1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.42e-04 | 5.47e-01 | 0.281 |
6653 | SORL1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 7.31e-07 | 6.56e-01 | 0.3859 |
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∗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 |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004217610 | Cervix | CC | regulation of protein catabolic process | 104/2311 | 391/18723 | 9.39e-15 | 9.36e-12 | 104 |
GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
GO:004573210 | Cervix | CC | positive regulation of protein catabolic process | 65/2311 | 231/18723 | 7.44e-11 | 1.39e-08 | 65 |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:190382910 | Cervix | CC | positive regulation of cellular protein localization | 72/2311 | 276/18723 | 3.20e-10 | 4.46e-08 | 72 |
GO:000989610 | Cervix | CC | positive regulation of catabolic process | 109/2311 | 492/18723 | 5.26e-10 | 6.99e-08 | 109 |
GO:004325410 | Cervix | CC | regulation of protein-containing complex assembly | 96/2311 | 428/18723 | 2.91e-09 | 3.05e-07 | 96 |
GO:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
GO:005122210 | Cervix | CC | positive regulation of protein transport | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
GO:004586110 | Cervix | CC | negative regulation of proteolysis | 80/2311 | 351/18723 | 2.88e-08 | 1.98e-06 | 80 |
GO:005165110 | Cervix | CC | maintenance of location in cell | 55/2311 | 214/18723 | 6.63e-08 | 3.85e-06 | 55 |
GO:190495110 | Cervix | CC | positive regulation of establishment of protein localization | 73/2311 | 319/18723 | 9.69e-08 | 5.25e-06 | 73 |
GO:003133010 | Cervix | CC | negative regulation of cellular catabolic process | 63/2311 | 262/18723 | 1.10e-07 | 5.68e-06 | 63 |
GO:005109810 | Cervix | CC | regulation of binding | 80/2311 | 363/18723 | 1.32e-07 | 6.42e-06 | 80 |
GO:00513469 | Cervix | CC | negative regulation of hydrolase activity | 81/2311 | 379/18723 | 4.27e-07 | 1.67e-05 | 81 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:00104669 | Cervix | CC | negative regulation of peptidase activity | 60/2311 | 262/18723 | 1.27e-06 | 4.34e-05 | 60 |
GO:000989510 | Cervix | CC | negative regulation of catabolic process | 69/2311 | 320/18723 | 2.15e-06 | 6.55e-05 | 69 |
GO:000660510 | Cervix | CC | protein targeting | 68/2311 | 314/18723 | 2.17e-06 | 6.55e-05 | 68 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 |
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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 |
SORL1 | SNV | Missense_Mutation | novel | c.2444N>C | p.Leu815Pro | p.L815P | Q92673 | protein_coding | deleterious(0.01) | probably_damaging(0.98) | TCGA-MX-A663-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SORL1 | SNV | Missense_Mutation | novel | c.3920N>C | p.Asp1307Ala | p.D1307A | Q92673 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-R5-A7ZI-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SORL1 | SNV | Missense_Mutation | novel | c.2593N>A | p.Phe865Ile | p.F865I | Q92673 | protein_coding | tolerated(0.09) | benign(0.007) | TCGA-RD-A7BT-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
SORL1 | SNV | Missense_Mutation | novel | c.2180G>T | p.Gly727Val | p.G727V | Q92673 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
SORL1 | SNV | Missense_Mutation | novel | c.3676G>A | p.Asp1226Asn | p.D1226N | Q92673 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
SORL1 | SNV | Missense_Mutation | rs144747223 | c.5767N>A | p.Val1923Ile | p.V1923I | Q92673 | protein_coding | tolerated(0.26) | benign(0) | TCGA-VQ-A8PO-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SORL1 | SNV | Missense_Mutation | novel | c.1570N>G | p.Ser524Gly | p.S524G | Q92673 | protein_coding | deleterious(0.03) | probably_damaging(0.978) | TCGA-VQ-A91D-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
SORL1 | SNV | Missense_Mutation | novel | c.1669N>A | p.Glu557Lys | p.E557K | Q92673 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-VQ-A91K-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
SORL1 | SNV | Missense_Mutation | rs764129966 | c.3625N>A | p.Gly1209Arg | p.G1209R | Q92673 | protein_coding | deleterious(0.03) | benign(0.391) | TCGA-VQ-A924-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SORL1 | deletion | In_Frame_Del | novel | c.1506_1508delNNN | p.Leu503del | p.L503del | Q92673 | protein_coding | TCGA-B7-5816-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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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