Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001097611 | Prostate | Tumor | positive regulation of neuron projection development | 42/3246 | 163/18723 | 4.24e-03 | 2.12e-02 | 42 |
GO:00508901 | Prostate | Tumor | cognition | 69/3246 | 296/18723 | 5.03e-03 | 2.45e-02 | 69 |
GO:190121514 | Prostate | Tumor | negative regulation of neuron death | 51/3246 | 208/18723 | 5.24e-03 | 2.52e-02 | 51 |
GO:004867514 | Prostate | Tumor | axon extension | 32/3246 | 120/18723 | 6.77e-03 | 3.09e-02 | 32 |
GO:199013814 | Prostate | Tumor | neuron projection extension | 43/3246 | 172/18723 | 6.83e-03 | 3.10e-02 | 43 |
GO:19018901 | Prostate | Tumor | positive regulation of cell junction assembly | 28/3246 | 104/18723 | 9.45e-03 | 4.06e-02 | 28 |
GO:004863813 | Prostate | Tumor | regulation of developmental growth | 74/3246 | 330/18723 | 1.00e-02 | 4.20e-02 | 74 |
GO:005080711 | Prostate | Tumor | regulation of synapse organization | 50/3246 | 211/18723 | 1.11e-02 | 4.56e-02 | 50 |
GO:003432919 | Skin | AK | cell junction assembly | 86/1910 | 420/18723 | 1.95e-10 | 2.68e-08 | 86 |
GO:004851119 | Skin | AK | rhythmic process | 67/1910 | 298/18723 | 3.47e-10 | 4.37e-08 | 67 |
GO:006156416 | Skin | AK | axon development | 91/1910 | 467/18723 | 8.60e-10 | 8.63e-08 | 91 |
GO:001604920 | Skin | AK | cell growth | 93/1910 | 482/18723 | 9.55e-10 | 9.42e-08 | 93 |
GO:005109826 | Skin | AK | regulation of binding | 74/1910 | 363/18723 | 4.40e-09 | 3.30e-07 | 74 |
GO:000740916 | Skin | AK | axonogenesis | 80/1910 | 418/18723 | 2.07e-08 | 1.19e-06 | 80 |
GO:007149627 | Skin | AK | cellular response to external stimulus | 63/1910 | 320/18723 | 2.30e-07 | 9.13e-06 | 63 |
GO:001072015 | Skin | AK | positive regulation of cell development | 59/1910 | 298/18723 | 4.52e-07 | 1.67e-05 | 59 |
GO:001097517 | Skin | AK | regulation of neuron projection development | 79/1910 | 445/18723 | 6.49e-07 | 2.23e-05 | 79 |
GO:000155820 | Skin | AK | regulation of cell growth | 73/1910 | 414/18723 | 2.21e-06 | 6.27e-05 | 73 |
GO:190188815 | Skin | AK | regulation of cell junction assembly | 43/1910 | 204/18723 | 2.99e-06 | 7.93e-05 | 43 |
GO:00507698 | Skin | AK | positive regulation of neurogenesis | 46/1910 | 225/18723 | 3.30e-06 | 8.56e-05 | 46 |
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 |
ADNP | SNV | Missense_Mutation | novel | c.1603N>T | p.His535Tyr | p.H535Y | Q9H2P0 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
ADNP | SNV | Missense_Mutation | | c.2618N>G | p.Asp873Gly | p.D873G | Q9H2P0 | protein_coding | tolerated_low_confidence(0.22) | benign(0.175) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADNP | SNV | Missense_Mutation | | c.2200G>A | p.Asp734Asn | p.D734N | Q9H2P0 | protein_coding | tolerated(0.36) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ADNP | SNV | Missense_Mutation | novel | c.1363N>A | p.Leu455Ile | p.L455I | Q9H2P0 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADNP | SNV | Missense_Mutation | novel | c.976N>A | p.His326Asn | p.H326N | Q9H2P0 | protein_coding | tolerated(0.17) | probably_damaging(0.956) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADNP | SNV | Missense_Mutation | novel | c.2521N>C | p.Asp841His | p.D841H | Q9H2P0 | protein_coding | deleterious(0.01) | possibly_damaging(0.536) | TCGA-AN-A0AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADNP | SNV | Missense_Mutation | novel | c.1364T>C | p.Leu455Pro | p.L455P | Q9H2P0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADNP | SNV | Missense_Mutation | | c.1041N>A | p.Met347Ile | p.M347I | Q9H2P0 | protein_coding | tolerated(0.49) | benign(0) | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ADNP | SNV | Missense_Mutation | | c.3244N>A | p.Asp1082Asn | p.D1082N | Q9H2P0 | protein_coding | deleterious_low_confidence(0.01) | benign(0.173) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
ADNP | SNV | Missense_Mutation | | c.3087N>C | p.Lys1029Asn | p.K1029N | Q9H2P0 | protein_coding | tolerated_low_confidence(0.43) | probably_damaging(0.981) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |