Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
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# | 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. |
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 |
CNKSR1 (Homo sapiens - human) |
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Cnksr1 (Mus musculus - house mouse) |
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Cnksr1 (Rattus norvegicus - Norway rat) |
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Cnksr1 (Chinchilla lanigera - long-tailed chinchilla) |
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CNKSR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CNKSR1 (Canis lupus familiaris - dog) |
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Cnksr1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CNKSR1 (Sus scrofa - pig) |
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CNKSR1 (Chlorocebus sabaeus - green monkey) |
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Cnksr1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CNKSR1
44 total 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 |
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. |
STS-R48282 |
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D1S1309 |
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CNKSR1_9077 |
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A006D29 |
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G32327 |
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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 |
RefSeq Acc Id: | ENST00000361530 ⟹ ENSP00000354609 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000374253 ⟹ ENSP00000363371 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465415 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000480348 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000480617 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481077 ⟹ ENSP00000432057 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000482227 ⟹ ENSP00000435880 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000484874 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000524529 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000525687 ⟹ ENSP00000437038 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528281 ⟹ ENSP00000434047 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531150 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531191 ⟹ ENSP00000431817 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001297647 ⟹ NP_001284576 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001297648 ⟹ NP_001284577 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_006314 ⟹ NP_006305 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q969H4-F1-model_v2 | AlphaFold | Q969H4 | 1-720 | view protein structure |
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: |
|
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: |
|
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 |