CNKSR1 (connector enhancer of kinase suppressor of Ras 1) - Rat Genome Database

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Gene: CNKSR1 (connector enhancer of kinase suppressor of Ras 1) Homo sapiens
Analyze
Symbol: CNKSR1
Name: connector enhancer of kinase suppressor of Ras 1
RGD ID: 1323565
HGNC Page HGNC:19700
Description: Enables protein-macromolecule adaptor activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Located in cell cortex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNK; CNK homolog protein 1; CNK1; connector enhancer of KSR 1; connector enhancer of KSR-like; hCNK1; KSR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,177,491 - 26,189,884 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,177,484 - 26,189,884 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,503,982 - 26,516,375 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,376,590 - 26,388,962 (+)NCBINCBI36Build 36hg18NCBI36
Build 34126,188,144 - 26,200,515NCBI
Celera124,900,351 - 24,912,738 (+)NCBICelera
Cytogenetic Map1p36.11NCBI
HuRef124,758,021 - 24,770,408 (+)NCBIHuRef
CHM1_1126,617,199 - 26,629,585 (+)NCBICHM1_1
T2T-CHM13v2.0126,014,921 - 26,027,308 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. An ATIPical family of angiotensin II AT2 receptor-interacting proteins. Rodrigues-Ferreira S and Nahmias C, Trends Endocrinol Metab. 2010 Nov;21(11):684-90.
Additional References at PubMed
PMID:8125298   PMID:9427625   PMID:9814705   PMID:10557308   PMID:12477932   PMID:14702039   PMID:14724641   PMID:14749388   PMID:15075335   PMID:15231748   PMID:15489334   PMID:15670823  
PMID:15753034   PMID:15845549   PMID:16189514   PMID:16289034   PMID:16344560   PMID:16825666   PMID:16964243   PMID:17496912   PMID:18287031   PMID:18821524   PMID:19718030   PMID:20197385  
PMID:20383191   PMID:20634316   PMID:21320536   PMID:22085542   PMID:24705354   PMID:24825906   PMID:25416956   PMID:26319181   PMID:27769899   PMID:27901111   PMID:28514442   PMID:28732488  
PMID:30450701   PMID:30480076   PMID:31182584   PMID:31515488   PMID:32296183   PMID:33961781   PMID:34187934   PMID:35914814  


Genomics

Comparative Map Data
CNKSR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,177,491 - 26,189,884 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,177,484 - 26,189,884 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,503,982 - 26,516,375 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,376,590 - 26,388,962 (+)NCBINCBI36Build 36hg18NCBI36
Build 34126,188,144 - 26,200,515NCBI
Celera124,900,351 - 24,912,738 (+)NCBICelera
Cytogenetic Map1p36.11NCBI
HuRef124,758,021 - 24,770,408 (+)NCBIHuRef
CHM1_1126,617,199 - 26,629,585 (+)NCBICHM1_1
T2T-CHM13v2.0126,014,921 - 26,027,308 (+)NCBIT2T-CHM13v2.0
Cnksr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,955,352 - 133,965,737 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4133,955,352 - 133,965,710 (-)EnsemblGRCm39 Ensembl
GRCm384134,228,041 - 134,238,416 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4134,228,041 - 134,238,399 (-)EnsemblGRCm38mm10GRCm38
MGSCv374133,783,957 - 133,794,314 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364133,500,118 - 133,510,475 (-)NCBIMGSCv36mm8
MGSCv364131,800,745 - 131,810,306 (-)NCBIMGSCv36mm8
Celera4132,407,888 - 132,418,211 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map466.5NCBI
Cnksr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85151,731,222 - 151,742,049 (-)NCBIGRCr8
mRatBN7.25146,447,495 - 146,458,332 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5146,447,497 - 146,458,212 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5149,149,245 - 149,159,880 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05150,919,634 - 150,930,291 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05150,905,459 - 150,916,094 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05152,447,348 - 152,458,005 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5152,446,845 - 152,458,023 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05156,206,363 - 156,217,020 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45152,972,551 - 152,983,208 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15152,982,589 - 152,993,370 (-)NCBI
Celera5144,865,185 - 144,875,842 (-)NCBICelera
Cytogenetic Map5q36NCBI
Cnksr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554525,624,306 - 5,634,923 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554525,624,334 - 5,634,861 (+)NCBIChiLan1.0ChiLan1.0
CNKSR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21200,681,749 - 200,700,402 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11199,779,866 - 199,798,352 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0125,438,092 - 25,450,953 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,505,376 - 26,517,561 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,505,513 - 26,517,225 (+)Ensemblpanpan1.1panPan2
CNKSR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,805,333 - 73,814,711 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,805,710 - 73,814,725 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha270,381,662 - 70,391,005 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0274,368,429 - 74,377,772 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl274,368,438 - 74,389,997 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1271,192,826 - 71,202,168 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,198,576 - 72,207,918 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0273,202,496 - 73,211,838 (-)NCBIUU_Cfam_GSD_1.0
Cnksr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505844,872,995 - 44,882,216 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647410,699,819 - 10,706,591 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647410,697,777 - 10,706,988 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNKSR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl683,598,372 - 83,608,607 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1683,598,363 - 83,608,617 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2677,200,943 - 77,208,114 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNKSR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120106,577,470 - 106,596,544 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20106,577,809 - 106,589,788 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660339,828,678 - 9,841,637 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cnksr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476410,234,670 - 10,253,631 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476410,223,039 - 10,253,937 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNKSR1
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006314.2(CNKSR1):c.525C>T (p.Ser175=) single nucleotide variant Malignant melanoma [RCV000064686] Chr1:26182485 [GRCh38]
Chr1:26508976 [GRCh37]
Chr1:26381563 [NCBI36]
Chr1:1p36.11
not provided
NM_006314.2(CNKSR1):c.526C>T (p.His176Tyr) single nucleotide variant Malignant melanoma [RCV000064687] Chr1:26182486 [GRCh38]
Chr1:26508977 [GRCh37]
Chr1:26381564 [NCBI36]
Chr1:1p36.11
not provided
NM_006314.2(CNKSR1):c.637C>T (p.His213Tyr) single nucleotide variant Malignant melanoma [RCV000064688] Chr1:26183209 [GRCh38]
Chr1:26509700 [GRCh37]
Chr1:26382287 [NCBI36]
Chr1:1p36.11
not provided
NM_198137.1(CATSPER4):c.148C>T (p.His50Tyr) single nucleotide variant Malignant melanoma [RCV000064689] Chr1:26190775 [GRCh38]
Chr1:26517266 [GRCh37]
Chr1:26389853 [NCBI36]
Chr1:1p36.11
not provided
NM_198137.1(CATSPER4):c.241A>C (p.Thr81Pro) single nucleotide variant Malignant melanoma [RCV000064690] Chr1:26191314 [GRCh38]
Chr1:26517805 [GRCh37]
Chr1:26390392 [NCBI36]
Chr1:1p36.11
not provided
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
NM_006314.3(CNKSR1):c.332T>A (p.Val111Asp) single nucleotide variant not specified [RCV000203194] Chr1:26180836 [GRCh38]
Chr1:26507327 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) deletion Usher syndrome type 2C [RCV001258281]|not provided [RCV001618356]|not specified [RCV000239010] Chr1:26183820 [GRCh38]
Chr1:26510311 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1462C>T (p.Arg488Cys) single nucleotide variant not provided [RCV000482886] Chr1:26188241 [GRCh38]
Chr1:26514732 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006314.3(CNKSR1):c.766C>T (p.Arg256Cys) single nucleotide variant Inborn genetic diseases [RCV003299866] Chr1:26183741 [GRCh38]
Chr1:26510232 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1231G>A (p.Gly411Ser) single nucleotide variant Inborn genetic diseases [RCV003244906] Chr1:26185109 [GRCh38]
Chr1:26511600 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006314.3(CNKSR1):c.1421T>C (p.Ile474Thr) single nucleotide variant not provided [RCV000894398] Chr1:26187449 [GRCh38]
Chr1:26513940 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1943G>A (p.Arg648His) single nucleotide variant not provided [RCV000893841] Chr1:26189349 [GRCh38]
Chr1:26515840 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.598G>A (p.Glu200Lys) single nucleotide variant not provided [RCV000904336] Chr1:26182558 [GRCh38]
Chr1:26509049 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.9G>A (p.Pro3=) single nucleotide variant not provided [RCV000973274] Chr1:26177556 [GRCh38]
Chr1:26504047 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1253G>A (p.Arg418His) single nucleotide variant not provided [RCV000973276] Chr1:26185131 [GRCh38]
Chr1:26511622 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1671C>T (p.Thr557=) single nucleotide variant not provided [RCV000973277] Chr1:26188678 [GRCh38]
Chr1:26515169 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.851C>G (p.Pro284Arg) single nucleotide variant not provided [RCV000900073] Chr1:26183826 [GRCh38]
Chr1:26510317 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_006314.3(CNKSR1):c.1454+10G>A single nucleotide variant not provided [RCV000968517] Chr1:26187492 [GRCh38]
Chr1:26513983 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1963C>T (p.Arg655Trp) single nucleotide variant not provided [RCV000968518] Chr1:26189369 [GRCh38]
Chr1:26515860 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1735C>A (p.Gln579Lys) single nucleotide variant not provided [RCV000967910] Chr1:26188816 [GRCh38]
Chr1:26515307 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.393-9C>T single nucleotide variant not provided [RCV000973275] Chr1:26181848 [GRCh38]
Chr1:26508339 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.2059C>T (p.His687Tyr) single nucleotide variant not provided [RCV000973278] Chr1:26189465 [GRCh38]
Chr1:26515956 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.397C>T (p.Leu133Phe) single nucleotide variant Inborn genetic diseases [RCV003289929] Chr1:26181861 [GRCh38]
Chr1:26508352 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_006314.3(CNKSR1):c.1041G>A (p.Pro347=) single nucleotide variant not provided [RCV000958839] Chr1:26184441 [GRCh38]
Chr1:26510932 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_006314.3(CNKSR1):c.237G>A (p.Leu79=) single nucleotide variant not provided [RCV000963747] Chr1:26180741 [GRCh38]
Chr1:26507232 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1844G>A (p.Arg615His) single nucleotide variant not provided [RCV000892781] Chr1:26188925 [GRCh38]
Chr1:26515416 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1945C>G (p.Gln649Glu) single nucleotide variant Inborn genetic diseases [RCV003240644] Chr1:26189351 [GRCh38]
Chr1:26515842 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.257T>C (p.Leu86Pro) single nucleotide variant Inborn genetic diseases [RCV003249038] Chr1:26180761 [GRCh38]
Chr1:26507252 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1438C>T (p.Leu480=) single nucleotide variant not provided [RCV000894399] Chr1:26187466 [GRCh38]
Chr1:26513957 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.81C>A (p.Pro27=) single nucleotide variant not provided [RCV000888373] Chr1:26180481 [GRCh38]
Chr1:26506972 [GRCh37]
Chr1:1p36.11
likely benign
NC_000001.10:g.(?_25870180)_(26795632_?)del deletion Hypercholesterolemia, familial, 4 [RCV001385284] Chr1:25870180..26795632 [GRCh37]
Chr1:1p36.11
pathogenic
GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3 copy number gain not provided [RCV001829142] Chr1:26246213..27044118 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.10:g.(?_25870190)_(27278871_?)dup duplication Retinitis pigmentosa 59 [RCV003122734] Chr1:25870190..27278871 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.29G>C (p.Gly10Ala) single nucleotide variant Inborn genetic diseases [RCV003303957] Chr1:26177576 [GRCh38]
Chr1:26504067 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val) single nucleotide variant Neurodevelopmental disorder [RCV002472095] Chr1:26182386 [GRCh38]
Chr1:26508877 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1657C>T (p.Arg553Cys) single nucleotide variant Inborn genetic diseases [RCV002865950] Chr1:26188664 [GRCh38]
Chr1:26515155 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.595C>T (p.Leu199Phe) single nucleotide variant Inborn genetic diseases [RCV002861158] Chr1:26182555 [GRCh38]
Chr1:26509046 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.673G>C (p.Val225Leu) single nucleotide variant Inborn genetic diseases [RCV002861164] Chr1:26183245 [GRCh38]
Chr1:26509736 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.37G>A (p.Ala13Thr) single nucleotide variant Inborn genetic diseases [RCV002728188] Chr1:26177584 [GRCh38]
Chr1:26504075 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.881C>T (p.Pro294Leu) single nucleotide variant Inborn genetic diseases [RCV002732933] Chr1:26184096 [GRCh38]
Chr1:26510587 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1040C>T (p.Pro347Leu) single nucleotide variant Inborn genetic diseases [RCV002883639] Chr1:26184440 [GRCh38]
Chr1:26510931 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.1595G>A (p.Ser532Asn) single nucleotide variant Inborn genetic diseases [RCV002925952] Chr1:26188602 [GRCh38]
Chr1:26515093 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1964G>A (p.Arg655Gln) single nucleotide variant Inborn genetic diseases [RCV002698280] Chr1:26189370 [GRCh38]
Chr1:26515861 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.1258C>T (p.Arg420Cys) single nucleotide variant Inborn genetic diseases [RCV002788999] Chr1:26185136 [GRCh38]
Chr1:26511627 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.1262G>C (p.Trp421Ser) single nucleotide variant Inborn genetic diseases [RCV002955224] Chr1:26185140 [GRCh38]
Chr1:26511631 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1658G>A (p.Arg553His) single nucleotide variant Inborn genetic diseases [RCV002960025] Chr1:26188665 [GRCh38]
Chr1:26515156 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1514C>A (p.Pro505Gln) single nucleotide variant Inborn genetic diseases [RCV003010736] Chr1:26188293 [GRCh38]
Chr1:26514784 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1546G>A (p.Glu516Lys) single nucleotide variant Inborn genetic diseases [RCV002747920] Chr1:26188459 [GRCh38]
Chr1:26514950 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1244C>A (p.Pro415Gln) single nucleotide variant Inborn genetic diseases [RCV002965665] Chr1:26185122 [GRCh38]
Chr1:26511613 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1190C>T (p.Pro397Leu) single nucleotide variant Inborn genetic diseases [RCV002959849] Chr1:26185068 [GRCh38]
Chr1:26511559 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_006314.3(CNKSR1):c.93G>A (p.Trp31Ter) single nucleotide variant not provided [RCV003412927] Chr1:26180493 [GRCh38]
Chr1:26506984 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_006314.3(CNKSR1):c.1071A>G (p.Val357=) single nucleotide variant not provided [RCV003412928] Chr1:26184471 [GRCh38]
Chr1:26510962 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.1520G>A (p.Arg507Gln) single nucleotide variant not provided [RCV003412929] Chr1:26188299 [GRCh38]
Chr1:26514790 [GRCh37]
Chr1:1p36.11
likely benign
NM_006314.3(CNKSR1):c.1691-2A>G single nucleotide variant not provided [RCV003412930] Chr1:26188770 [GRCh38]
Chr1:26515261 [GRCh37]
Chr1:1p36.11
benign
NM_006314.3(CNKSR1):c.1692C>T (p.Asp564=) single nucleotide variant not provided [RCV003412931] Chr1:26188773 [GRCh38]
Chr1:26515264 [GRCh37]
Chr1:1p36.11
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5400
Count of miRNA genes:1034
Interacting mature miRNAs:1301
Transcripts:ENST00000361530, ENST00000374253, ENST00000465415, ENST00000480348, ENST00000480617, ENST00000481077, ENST00000482227, ENST00000484874, ENST00000524529, ENST00000525687, ENST00000528001, ENST00000528281, ENST00000531150, ENST00000531191
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-R48282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,516,119 - 26,516,358UniSTSGRCh37
Build 36126,388,706 - 26,388,945RGDNCBI36
Celera124,912,482 - 24,912,721RGD
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p35.3UniSTS
HuRef124,770,152 - 24,770,391UniSTS
GeneMap99-GB4 RH Map188.3UniSTS
D1S1309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,515,745 - 26,515,932UniSTSGRCh37
Build 36126,388,332 - 26,388,519RGDNCBI36
Celera124,912,108 - 24,912,295RGD
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p35.3UniSTS
HuRef124,769,778 - 24,769,965UniSTS
CNKSR1_9077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,515,819 - 26,516,411UniSTSGRCh37
Build 36126,388,406 - 26,388,998RGDNCBI36
Celera124,912,182 - 24,912,774RGD
HuRef124,769,852 - 24,770,444UniSTS
A006D29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,516,151 - 26,516,331UniSTSGRCh37
Build 36126,388,738 - 26,388,918RGDNCBI36
Celera124,912,514 - 24,912,694RGD
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p35.3UniSTS
HuRef124,770,184 - 24,770,364UniSTS
GeneMap99-GB4 RH Map187.06UniSTS
G32327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,516,151 - 26,516,331UniSTSGRCh37
Celera124,912,514 - 24,912,694UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p35.3UniSTS
HuRef124,770,184 - 24,770,364UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 794 9 983 187 138 28 2294 815 688 98 682 1317 169 2 1525 4 1
Low 1627 2477 432 356 1325 356 1963 1293 2948 224 769 269 5 1 1137 1251 1 1
Below cutoff 18 497 296 69 471 69 96 84 75 92 7 23 65 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA445069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA868484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR159101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000361530   ⟹   ENSP00000354609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,491 - 26,189,884 (+)Ensembl
RefSeq Acc Id: ENST00000374253   ⟹   ENSP00000363371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,509 - 26,189,884 (+)Ensembl
RefSeq Acc Id: ENST00000465415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,503 - 26,181,083 (+)Ensembl
RefSeq Acc Id: ENST00000480348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,490 - 26,183,218 (+)Ensembl
RefSeq Acc Id: ENST00000480617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,186,915 - 26,188,301 (+)Ensembl
RefSeq Acc Id: ENST00000481077   ⟹   ENSP00000432057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,484 - 26,183,795 (+)Ensembl
RefSeq Acc Id: ENST00000482227   ⟹   ENSP00000435880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,512 - 26,189,882 (+)Ensembl
RefSeq Acc Id: ENST00000484874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,187,293 - 26,188,853 (+)Ensembl
RefSeq Acc Id: ENST00000524529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,181,587 - 26,183,256 (+)Ensembl
RefSeq Acc Id: ENST00000525687   ⟹   ENSP00000437038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,177,512 - 26,185,041 (+)Ensembl
RefSeq Acc Id: ENST00000528001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,182,055 - 26,184,409 (+)Ensembl
RefSeq Acc Id: ENST00000528281   ⟹   ENSP00000434047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,183,204 - 26,188,457 (+)Ensembl
RefSeq Acc Id: ENST00000531150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,182,005 - 26,184,195 (+)Ensembl
RefSeq Acc Id: ENST00000531191   ⟹   ENSP00000431817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,180,168 - 26,189,846 (+)Ensembl
RefSeq Acc Id: NM_001297647   ⟹   NP_001284576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,177,491 - 26,189,884 (+)NCBI
CHM1_1126,617,199 - 26,629,585 (+)NCBI
T2T-CHM13v2.0126,014,921 - 26,027,308 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001297648   ⟹   NP_001284577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,177,491 - 26,189,884 (+)NCBI
CHM1_1126,617,199 - 26,629,585 (+)NCBI
T2T-CHM13v2.0126,014,921 - 26,027,308 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006314   ⟹   NP_006305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,177,491 - 26,189,884 (+)NCBI
GRCh37126,503,981 - 26,516,375 (+)ENTREZGENE
Build 36126,376,590 - 26,388,962 (+)NCBI Archive
HuRef124,758,021 - 24,770,408 (+)ENTREZGENE
CHM1_1126,617,199 - 26,629,585 (+)NCBI
T2T-CHM13v2.0126,014,921 - 26,027,308 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006305   ⟸   NM_006314
- Peptide Label: isoform 1
- UniProtKB: Q53GM7 (UniProtKB/TrEMBL),   A8K9D1 (UniProtKB/TrEMBL),   Q53GW4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284576   ⟸   NM_001297647
- Peptide Label: isoform 2
- UniProtKB: B1AMW9 (UniProtKB/Swiss-Prot),   O95381 (UniProtKB/Swiss-Prot),   Q969H4 (UniProtKB/Swiss-Prot),   A8K9D1 (UniProtKB/TrEMBL),   Q53GW4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284577   ⟸   NM_001297648
- Peptide Label: isoform 3
- UniProtKB: G3V160 (UniProtKB/TrEMBL),   Q59FX4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431817   ⟸   ENST00000531191
RefSeq Acc Id: ENSP00000363371   ⟸   ENST00000374253
RefSeq Acc Id: ENSP00000354609   ⟸   ENST00000361530
RefSeq Acc Id: ENSP00000432057   ⟸   ENST00000481077
RefSeq Acc Id: ENSP00000435880   ⟸   ENST00000482227
RefSeq Acc Id: ENSP00000437038   ⟸   ENST00000525687
RefSeq Acc Id: ENSP00000434047   ⟸   ENST00000528281
Protein Domains
CRIC   PDZ   PH   SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969H4-F1-model_v2 AlphaFold Q969H4 1-720 view protein structure

Promoters
RGD ID:6854612
Promoter ID:EPDNEW_H471
Type:initiation region
Name:CNKSR1_1
Description:connector enhancer of kinase suppressor of Ras 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,177,507 - 26,177,567EPDNEW
RGD ID:6784943
Promoter ID:HG_KWN:1473
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_006314,   NR_023345,   OTTHUMT00000019859,   OTTHUMT00000089944,   UC001BLN.2,   UC009VSD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,376,354 - 26,376,854 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19700 AgrOrtholog
COSMIC CNKSR1 COSMIC
Ensembl Genes ENSG00000142675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361530 ENTREZGENE
  ENST00000361530.11 UniProtKB/Swiss-Prot
  ENST00000374253 ENTREZGENE
  ENST00000374253.9 UniProtKB/Swiss-Prot
  ENST00000481077.6 UniProtKB/TrEMBL
  ENST00000482227.5 UniProtKB/TrEMBL
  ENST00000525687.5 UniProtKB/TrEMBL
  ENST00000528281.5 UniProtKB/TrEMBL
  ENST00000531191 ENTREZGENE
  ENST00000531191.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142675 GTEx
HGNC ID HGNC:19700 ENTREZGENE
Human Proteome Map CNKSR1 Human Proteome Map
InterPro CRIC_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10256 ENTREZGENE
OMIM 603272 OMIM
PANTHER CONNECTOR ENCHANCER OF KINASE SUPPRESSOR OF RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CRIC_ras_sig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/TrEMBL
PharmGKB PA134901167 PharmGKB
PROSITE CRIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PDZ UniProtKB/TrEMBL
  PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9D1 ENTREZGENE, UniProtKB/TrEMBL
  B1AMW9 ENTREZGENE
  B4DL25_HUMAN UniProtKB/TrEMBL
  B4DXN4_HUMAN UniProtKB/TrEMBL
  CNKR1_HUMAN UniProtKB/Swiss-Prot
  E9PIE0_HUMAN UniProtKB/TrEMBL
  E9PS82_HUMAN UniProtKB/TrEMBL
  G3V160 ENTREZGENE, UniProtKB/TrEMBL
  H0YDP5_HUMAN UniProtKB/TrEMBL
  O95381 ENTREZGENE
  Q53GM7 ENTREZGENE, UniProtKB/TrEMBL
  Q53GW4 ENTREZGENE, UniProtKB/TrEMBL
  Q59FX4 ENTREZGENE, UniProtKB/TrEMBL
  Q969H4 ENTREZGENE
UniProt Secondary B1AMW9 UniProtKB/Swiss-Prot
  O95381 UniProtKB/Swiss-Prot