I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| ciliated cell | 5 studies | 26% ± 7% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| ciliated cell | 5 studies | 26% ± 7% |
Insufficient scRNA-seq data for expression of MKS1 at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| bladder | 100% | 781.48 | 21 / 21 | 100% | 5.27 | 504 / 504 |
| esophagus | 100% | 743.60 | 1445 / 1445 | 100% | 3.88 | 183 / 183 |
| ovary | 100% | 1286.21 | 180 / 180 | 100% | 4.64 | 430 / 430 |
| prostate | 100% | 975.67 | 245 / 245 | 100% | 4.60 | 502 / 502 |
| skin | 100% | 959.34 | 1809 / 1809 | 100% | 5.21 | 472 / 472 |
| uterus | 100% | 1191.02 | 170 / 170 | 100% | 5.77 | 458 / 459 |
| thymus | 100% | 974.95 | 653 / 653 | 100% | 4.60 | 603 / 605 |
| intestine | 100% | 783.33 | 966 / 966 | 100% | 4.17 | 525 / 527 |
| pancreas | 100% | 620.76 | 328 / 328 | 99% | 3.67 | 177 / 178 |
| breast | 100% | 895.52 | 458 / 459 | 100% | 6.24 | 1114 / 1118 |
| stomach | 100% | 661.67 | 358 / 359 | 100% | 3.80 | 285 / 286 |
| brain | 99% | 513.69 | 2624 / 2642 | 100% | 5.97 | 705 / 705 |
| kidney | 100% | 845.91 | 89 / 89 | 99% | 4.85 | 889 / 901 |
| lung | 98% | 677.48 | 568 / 578 | 100% | 4.95 | 1153 / 1155 |
| adrenal gland | 100% | 952.22 | 257 / 258 | 98% | 3.26 | 226 / 230 |
| liver | 99% | 470.78 | 224 / 226 | 91% | 2.23 | 371 / 406 |
| spleen | 100% | 821.46 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 4.53 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 2.61 | 1 / 1 |
| adipose | 100% | 632.95 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 99% | 529.48 | 1327 / 1335 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 99% | 3.99 | 79 / 80 |
| muscle | 98% | 421.32 | 789 / 803 | 0% | 0 | 0 / 0 |
| heart | 97% | 405.01 | 837 / 861 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 97% | 3.57 | 28 / 29 |
| peripheral blood | 55% | 328.09 | 514 / 929 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| GO_0008589 | Biological process | regulation of smoothened signaling pathway |
| GO_1905515 | Biological process | non-motile cilium assembly |
| GO_0060271 | Biological process | cilium assembly |
| GO_0003271 | Biological process | smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation |
| GO_0060322 | Biological process | head development |
| GO_0010669 | Biological process | epithelial structure maintenance |
| GO_0048754 | Biological process | branching morphogenesis of an epithelial tube |
| GO_0007368 | Biological process | determination of left/right symmetry |
| GO_0044458 | Biological process | motile cilium assembly |
| GO_0060411 | Biological process | cardiac septum morphogenesis |
| GO_0042733 | Biological process | embryonic digit morphogenesis |
| GO_0061009 | Biological process | common bile duct development |
| GO_0060122 | Biological process | inner ear receptor cell stereocilium organization |
| GO_0048706 | Biological process | embryonic skeletal system development |
| GO_0001843 | Biological process | neural tube closure |
| GO_2000095 | Biological process | regulation of Wnt signaling pathway, planar cell polarity pathway |
| GO_0060828 | Biological process | regulation of canonical Wnt signaling pathway |
| GO_1990403 | Biological process | embryonic brain development |
| GO_0036038 | Cellular component | MKS complex |
| GO_0016020 | Cellular component | membrane |
| GO_0005813 | Cellular component | centrosome |
| GO_0005814 | Cellular component | centriole |
| GO_0005829 | Cellular component | cytosol |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0036064 | Cellular component | ciliary basal body |
| GO_0005515 | Molecular function | protein binding |
| Gene name | MKS1 |
| Protein name | Meckel syndrome type 1 isoform 1 Tectonic-like complex member MKS1 (Meckel syndrome type 1 protein) MKS transition zone complex subunit 1 MKS transition zone complex subunit 1 (Meckel syndrome type 1 isoform 3) Meckel syndrome type 1 isoform 2 |
| Synonyms | |
| Description | FUNCTION: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. . |
| Accessions | ENST00000675753.2 ENST00000578789.1 A0A7I2V4E1 A0A0S2Z5Z2 ENST00000676787.1 ENST00000678432.1 A0A7I2V561 ENST00000537529.7 ENST00000581761.6 A0A7I2YQA3 ENST00000393119.7 [Q9NXB0-1] ENST00000678568.1 J3QQP4 H0Y2S2 A0A7I2V4C1 ENST00000677111.1 ENST00000313863.11 ENST00000577824.5 ENST00000677486.1 ENST00000678641.1 ENST00000393120.6 A0A6Q8PG98 A0A7I2V6A2 A0A0S2Z5L9 Q9NXB0 A0A0S2Z5J0 ENST00000678463.1 A0A7I2V2M0 J3KSC6 ENST00000585134.2 J3KRR3 ENST00000580127.6 A0A6Q8PGJ4 ENST00000581180.2 J9PBQ5 A0A7I2V4A2 ENST00000676975.1 ENST00000677546.1 J3KSF4 J3KSB7 |
