TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
IKZF5 | MSC.PVA | Skin | SCCIS | ISYNA1,ZNF354B,BBC3, etc. | 1.44e-02 | ![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.](images/gene_regulatory/Skin/Str/TF_SCCIS/regulons_activity_in_dotplot.png) |
IKZF5 | END | Thyroid | ATC | TMSB4XP4,NR1H3,MTX3, etc. | 0.00e+00 | ![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.](images/gene_regulatory/Thyroid/Str/TF_ATC/regulons_activity_in_dotplot.png) |
IKZF5 | INCAF | Thyroid | goiters | TMSB4XP4,NR1H3,MTX3, etc. | 0.00e+00 | ![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.](images/gene_regulatory/Thyroid/Str/TF_goiters/regulons_activity_in_dotplot.png) |
IKZF5 | ICAF | Thyroid | goiters | TMSB4XP4,NR1H3,MTX3, etc. | 0.00e+00 | ![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.](images/gene_regulatory/Thyroid/Str/TF_goiters/regulons_activity_in_dotplot.png) |
IKZF5 | END | Thyroid | goiters | TMSB4XP4,NR1H3,MTX3, etc. | 0.00e+00 | ![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.](images/gene_regulatory/Thyroid/Str/TF_goiters/regulons_activity_in_dotplot.png) |
IKZF5 | LYMEND | Thyroid | Healthy | TMSB4XP4,NR1H3,MTX3, etc. | 4.42e-02 | ![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.](images/gene_regulatory/Thyroid/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
IKZF5 | ICAF | Thyroid | Healthy | TMSB4XP4,NR1H3,MTX3, etc. | 0.00e+00 | ![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.](images/gene_regulatory/Thyroid/Str/TF_Healthy/regulons_activity_in_dotplot.png) |
IKZF5 | ICAF | Thyroid | PTC | TMSB4XP4,NR1H3,MTX3, etc. | 2.89e-02 | ![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.](images/gene_regulatory/Thyroid/Str/TF_PTC/regulons_activity_in_dotplot.png) |
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 |
IKZF5 | SNV | Missense_Mutation | | c.659N>G | p.Pro220Arg | p.P220R | Q9H5V7 | protein_coding | tolerated(0.21) | possibly_damaging(0.505) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | novel | c.980N>C | p.Val327Ala | p.V327A | Q9H5V7 | protein_coding | tolerated(0.51) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | rs755581220 | c.1069G>T | p.Val357Phe | p.V357F | Q9H5V7 | protein_coding | tolerated(0.32) | benign(0.037) | TCGA-AN-A0AS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | novel | c.1000C>G | p.Pro334Ala | p.P334A | Q9H5V7 | protein_coding | tolerated(0.84) | benign(0.003) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
IKZF5 | SNV | Missense_Mutation | novel | c.751N>A | p.Pro251Thr | p.P251T | Q9H5V7 | protein_coding | deleterious(0.01) | benign(0.272) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
IKZF5 | insertion | Nonsense_Mutation | novel | c.821_822insTTGTTTATTCAATGTCTAAACACATGTCAGTTTTCCACTGGATTTT | p.Pro275CysfsTer6 | p.P275Cfs*6 | Q9H5V7 | protein_coding | | | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | novel | c.1132C>A | p.Leu378Ile | p.L378I | Q9H5V7 | protein_coding | deleterious(0.04) | probably_damaging(0.987) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IKZF5 | SNV | Missense_Mutation | | c.703N>T | p.Pro235Ser | p.P235S | Q9H5V7 | protein_coding | tolerated(0.21) | benign(0) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | rs745563418 | c.470N>A | p.Arg157Gln | p.R157Q | Q9H5V7 | protein_coding | tolerated(0.1) | probably_damaging(0.992) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IKZF5 | SNV | Missense_Mutation | | c.1198N>G | p.Lys400Glu | p.K400E | Q9H5V7 | protein_coding | tolerated(0.17) | benign(0.118) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |