CLIC6 (chloride intracellular channel 6) - Rat Genome Database

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Gene: CLIC6 (chloride intracellular channel 6) Homo sapiens
Analyze
Symbol: CLIC6
Name: chloride intracellular channel 6
RGD ID: 735803
HGNC Page HGNC:2065
Description: Predicted to enable D2 dopamine receptor binding activity; D3 dopamine receptor binding activity; and D4 dopamine receptor binding activity. Predicted to be involved in chloride transmembrane transport. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chloride channel form A; chloride intracellular channel protein 6; CLIC1L; parchorin
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
GRCh382134,668,994 - 34,718,223 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,668,994 - 34,718,227 (+)EnsemblGRCh38hg38GRCh38
GRCh372136,041,293 - 36,090,521 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,963,558 - 35,012,389 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,963,557 - 35,012,389NCBI
Celera2121,241,258 - 21,290,092 (+)NCBICelera
Cytogenetic Map21q22.12NCBI
HuRef2121,520,561 - 21,569,502 (+)NCBIHuRef
CHM1_12135,603,984 - 35,652,808 (+)NCBICHM1_1
T2T-CHM13v2.02133,051,578 - 33,100,790 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:10830953   PMID:12226712   PMID:12477932   PMID:12747765   PMID:14499480   PMID:14597386   PMID:14702039   PMID:15489334   PMID:19056867   PMID:19834535   PMID:19863549  
PMID:21873635   PMID:23535966   PMID:25058583   PMID:26186194   PMID:28514442   PMID:33961781   PMID:35914814  


Genomics

Comparative Map Data
CLIC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382134,668,994 - 34,718,223 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,668,994 - 34,718,227 (+)EnsemblGRCh38hg38GRCh38
GRCh372136,041,293 - 36,090,521 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,963,558 - 35,012,389 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,963,557 - 35,012,389NCBI
Celera2121,241,258 - 21,290,092 (+)NCBICelera
Cytogenetic Map21q22.12NCBI
HuRef2121,520,561 - 21,569,502 (+)NCBIHuRef
CHM1_12135,603,984 - 35,652,808 (+)NCBICHM1_1
T2T-CHM13v2.02133,051,578 - 33,100,790 (+)NCBIT2T-CHM13v2.0
Clic6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391692,295,035 - 92,338,129 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1692,282,624 - 92,338,131 (+)EnsemblGRCm39 Ensembl
GRCm381692,498,147 - 92,541,241 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1692,485,736 - 92,541,243 (+)EnsemblGRCm38mm10GRCm38
MGSCv371692,498,392 - 92,541,486 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361692,387,006 - 92,430,100 (+)NCBIMGSCv36mm8
Celera1693,581,042 - 93,624,278 (+)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1653.64NCBI
Clic6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81145,223,715 - 45,266,261 (+)NCBIGRCr8
mRatBN7.21131,737,813 - 31,780,360 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1131,737,813 - 31,780,061 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1140,432,325 - 40,474,994 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01133,103,806 - 33,146,473 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01132,262,687 - 32,305,152 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01132,655,653 - 32,698,004 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1132,655,616 - 32,699,382 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01136,259,974 - 36,302,131 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41132,516,492 - 32,559,195 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11132,572,734 - 32,615,438 (+)NCBI
Celera1131,389,140 - 31,431,254 (+)NCBICelera
Cytogenetic Map11q11NCBI
Clic6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540734,002,656 - 34,042,524 (+)NCBIChiLan1.0ChiLan1.0
CLIC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22230,792,009 - 30,841,205 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12125,650,076 - 25,698,983 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02121,041,763 - 21,089,958 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12134,409,056 - 34,457,307 (+)NCBIpanpan1.1PanPan1.1panPan2
CLIC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13130,003,448 - 30,102,939 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3130,091,335 - 30,100,842 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3129,156,624 - 29,202,157 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03129,303,623 - 29,403,853 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3129,358,233 - 29,403,507 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13129,224,227 - 29,269,813 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03129,238,956 - 29,284,553 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03129,675,108 - 29,775,259 (+)NCBIUU_Cfam_GSD_1.0
Clic6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497129,651,093 - 29,693,204 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365007,774,597 - 7,816,702 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365007,774,962 - 7,816,658 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLIC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13198,251,119 - 198,303,857 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113198,250,702 - 198,303,830 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213208,079,952 - 208,131,097 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLIC6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1278,703,815 - 78,752,183 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660546,522,713 - 6,569,852 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clic6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474522,816,292 - 22,861,613 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474522,807,618 - 22,861,521 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLIC6
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 copy number gain See cases [RCV000053070] Chr21:35292816..36834601 [GRCh37]
Chr21:34214686..35756471 [NCBI36]
Chr21:21q22.1		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_053277.1(CLIC6):c.1749G>A (p.Arg583=) single nucleotide variant Malignant melanoma [RCV000072827] Chr21:34709388 [GRCh38]
Chr21:36081686 [GRCh37]
Chr21:35003556 [NCBI36]
Chr21:21q22.12		 not provided
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 copy number gain See cases [RCV000136827] Chr21:34997018..36118212 [GRCh37]
Chr21:33918888..35040082 [NCBI36]
Chr21:21q22.11-22.12		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.12(chr21:34507402-34693381)x1 copy number loss See cases [RCV000142801] Chr21:34507402..34693381 [GRCh38]
Chr21:35879700..36065680 [GRCh37]
Chr21:34801570..34987550 [NCBI36]
Chr21:21q22.12		 uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_053277.3(CLIC6):c.89A>T (p.Glu30Val) single nucleotide variant Inborn genetic diseases [RCV003310912] Chr21:34669477 [GRCh38]
Chr21:36041776 [GRCh37]
Chr21:21q22.12		 uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2		 pathogenic
GRCh37/hg19 21q22.12(chr21:35938310-36260994)x3 copy number gain not provided [RCV000684140] Chr21:35938310..36260994 [GRCh37]
Chr21:21q22.12		 uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3 copy number gain not provided [RCV000684159] Chr21:35313088..36864916 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
NC_000021.8:g.(?_35742772)_(36421202_?)del deletion Long QT syndrome 6 [RCV000708545] Chr21:35742772..36421202 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
NC_000021.8:g.35304341_36865875del deletion Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [RCV003448360]|Thrombocytopenia [RCV001003847] Chr21:35304341..36865875 [GRCh37]
Chr21:21q22.11-22.12		 pathogenic|likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_053277.3(CLIC6):c.786_815del (p.Gly263_Ala272del) deletion not provided [RCV000948501] Chr21:34670164..34670193 [GRCh38]
Chr21:36042463..36042492 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.1307G>C (p.Arg436Pro) single nucleotide variant not provided [RCV000967572] Chr21:34670695 [GRCh38]
Chr21:36042994 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.1848C>T (p.Asp616=) single nucleotide variant not provided [RCV000970376] Chr21:34709487 [GRCh38]
Chr21:36081785 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.2040T>G (p.Asp680Glu) single nucleotide variant Inborn genetic diseases [RCV003269653] Chr21:34716461 [GRCh38]
Chr21:36088759 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.538G>T (p.Val180Leu) single nucleotide variant not provided [RCV000882667] Chr21:34669926 [GRCh38]
Chr21:36042225 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.531C>G (p.Gly177=) single nucleotide variant not provided [RCV000887848] Chr21:34669919 [GRCh38]
Chr21:36042218 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.1121G>T (p.Arg374Leu) single nucleotide variant not provided [RCV000900552] Chr21:34670509 [GRCh38]
Chr21:36042808 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.1026C>T (p.Ser342=) single nucleotide variant not provided [RCV000917439] Chr21:34670414 [GRCh38]
Chr21:36042713 [GRCh37]
Chr21:21q22.12		 likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1 copy number loss not provided [RCV000846552] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_053277.3(CLIC6):c.476G>A (p.Ser159Asn) single nucleotide variant Inborn genetic diseases [RCV003246446] Chr21:34669864 [GRCh38]
Chr21:36042163 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1346A>G (p.Gln449Arg) single nucleotide variant Inborn genetic diseases [RCV003274452] Chr21:34670734 [GRCh38]
Chr21:36043033 [GRCh37]
Chr21:21q22.12		 uncertain significance
NC_000021.8:g.(?_36079578)_(37133458_?)del deletion Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [RCV003107464] Chr21:36079578..37133458 [GRCh37]
Chr21:21q22.12		 pathogenic
NM_053277.3(CLIC6):c.1314C>A (p.Asp438Glu) single nucleotide variant not provided [RCV000888871] Chr21:34670702 [GRCh38]
Chr21:36043001 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.1650C>T (p.Ser550=) single nucleotide variant not provided [RCV000917353] Chr21:34708739 [GRCh38]
Chr21:36081037 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.1951A>G (p.Ile651Val) single nucleotide variant not provided [RCV000971088] Chr21:34716372 [GRCh38]
Chr21:36088670 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.540A>G (p.Val180=) single nucleotide variant not provided [RCV000909642] Chr21:34669928 [GRCh38]
Chr21:36042227 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.1425C>T (p.Leu475=) single nucleotide variant not provided [RCV000913033] Chr21:34707330 [GRCh38]
Chr21:36079628 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.1203G>A (p.Glu401=) single nucleotide variant not provided [RCV000891181] Chr21:34670591 [GRCh38]
Chr21:36042890 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.1919G>A (p.Arg640Lys) single nucleotide variant not provided [RCV000958114] Chr21:34716340 [GRCh38]
Chr21:36088638 [GRCh37]
Chr21:21q22.12		 benign
NM_053277.3(CLIC6):c.2001G>A (p.Thr667=) single nucleotide variant not provided [RCV000957467] Chr21:34716422 [GRCh38]
Chr21:36088720 [GRCh37]
Chr21:21q22.12		 benign
GRCh37/hg19 21q22.12(chr21:36045253-36165086)x3 copy number gain not provided [RCV002473666] Chr21:36045253..36165086 [GRCh37]
Chr21:21q22.12		 uncertain significance
NC_000021.8:g.35304355_36865958del deletion Thrombocytopenia [RCV001003848] Chr21:35304355..36865958 [GRCh37]
Chr21:21q22.11-22.12		 likely pathogenic
NM_053277.3(CLIC6):c.641G>T (p.Gly214Val) single nucleotide variant sellar metastasis from primary bronchial carcinoid tumor [RCV001251070] Chr21:34670029 [GRCh38]
Chr21:36042328 [GRCh37]
Chr21:21q22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_32439271)_(37133458_?)dup duplication Early-onset Parkinson disease 20 [RCV001338842] Chr21:32439271..37133458 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005) copy number gain not specified [RCV002052735] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_32439271)_(39212984_?)dup duplication Amyotrophic lateral sclerosis type 1 [RCV001939883]|DYRK1A-related intellectual disability syndrome [RCV003107882] Chr21:32439271..39212984 [GRCh37]
Chr21:21q22.11-22.13		 uncertain significance
GRCh37/hg19 21q22.12(chr21:35938726-36255103)x3 copy number gain not provided [RCV002474880] Chr21:35938726..36255103 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.787G>A (p.Gly263Arg) single nucleotide variant Myoepithelial tumor [RCV002463894] Chr21:34670175 [GRCh38]
Chr21:36042474 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.664G>A (p.Ala222Thr) single nucleotide variant Inborn genetic diseases [RCV002840929] Chr21:34670052 [GRCh38]
Chr21:36042351 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1118G>T (p.Arg373Ile) single nucleotide variant Inborn genetic diseases [RCV002926407] Chr21:34670506 [GRCh38]
Chr21:36042805 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.241G>A (p.Gly81Ser) single nucleotide variant Inborn genetic diseases [RCV002660139] Chr21:34669629 [GRCh38]
Chr21:36041928 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.722A>G (p.Asp241Gly) single nucleotide variant Inborn genetic diseases [RCV002738307] Chr21:34670110 [GRCh38]
Chr21:36042409 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.227C>T (p.Thr76Met) single nucleotide variant Inborn genetic diseases [RCV002987139] Chr21:34669615 [GRCh38]
Chr21:36041914 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1355A>T (p.Asp452Val) single nucleotide variant Inborn genetic diseases [RCV002931149] Chr21:34670743 [GRCh38]
Chr21:36043042 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.2021T>C (p.Ile674Thr) single nucleotide variant Inborn genetic diseases [RCV002892729] Chr21:34716442 [GRCh38]
Chr21:36088740 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1327G>A (p.Glu443Lys) single nucleotide variant Inborn genetic diseases [RCV002708439] Chr21:34670715 [GRCh38]
Chr21:36043014 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1663G>A (p.Val555Met) single nucleotide variant Inborn genetic diseases [RCV002765040] Chr21:34708752 [GRCh38]
Chr21:36081050 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.682G>A (p.Asp228Asn) single nucleotide variant Inborn genetic diseases [RCV002956861] Chr21:34670070 [GRCh38]
Chr21:36042369 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.510A>G (p.Ile170Met) single nucleotide variant Inborn genetic diseases [RCV002762903] Chr21:34669898 [GRCh38]
Chr21:36042197 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1856C>T (p.Thr619Met) single nucleotide variant Inborn genetic diseases [RCV003006558] Chr21:34709495 [GRCh38]
Chr21:36081793 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.609G>C (p.Glu203Asp) single nucleotide variant Inborn genetic diseases [RCV002651926] Chr21:34669997 [GRCh38]
Chr21:36042296 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1516G>A (p.Gly506Arg) single nucleotide variant Inborn genetic diseases [RCV002674118] Chr21:34707975 [GRCh38]
Chr21:36080273 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.847G>A (p.Glu283Lys) single nucleotide variant Inborn genetic diseases [RCV002652113] Chr21:34670235 [GRCh38]
Chr21:36042534 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.178G>T (p.Ala60Ser) single nucleotide variant Inborn genetic diseases [RCV002770021] Chr21:34669566 [GRCh38]
Chr21:36041865 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1217C>T (p.Ala406Val) single nucleotide variant Inborn genetic diseases [RCV002746853] Chr21:34670605 [GRCh38]
Chr21:36042904 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1559C>T (p.Thr520Met) single nucleotide variant Inborn genetic diseases [RCV002674635] Chr21:34708018 [GRCh38]
Chr21:36080316 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1634A>G (p.His545Arg) single nucleotide variant Inborn genetic diseases [RCV002674362] Chr21:34708723 [GRCh38]
Chr21:36081021 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.693C>G (p.Asp231Glu) single nucleotide variant Inborn genetic diseases [RCV002936542] Chr21:34670081 [GRCh38]
Chr21:36042380 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1637C>T (p.Pro546Leu) single nucleotide variant Inborn genetic diseases [RCV002965334] Chr21:34708726 [GRCh38]
Chr21:36081024 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.38G>A (p.Gly13Asp) single nucleotide variant Inborn genetic diseases [RCV002747510] Chr21:34669426 [GRCh38]
Chr21:36041725 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1492G>A (p.Ala498Thr) single nucleotide variant Inborn genetic diseases [RCV003184809] Chr21:34707951 [GRCh38]
Chr21:36080249 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.310G>A (p.Gly104Ser) single nucleotide variant Inborn genetic diseases [RCV003205935] Chr21:34669698 [GRCh38]
Chr21:36041997 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.1976A>G (p.Tyr659Cys) single nucleotide variant Inborn genetic diseases [RCV003262121] Chr21:34716397 [GRCh38]
Chr21:36088695 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.659T>C (p.Val220Ala) single nucleotide variant Inborn genetic diseases [RCV003309645] Chr21:34670047 [GRCh38]
Chr21:36042346 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1786G>A (p.Glu596Lys) single nucleotide variant Inborn genetic diseases [RCV003346815] Chr21:34709425 [GRCh38]
Chr21:36081723 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.753G>C (p.Glu251Asp) single nucleotide variant Inborn genetic diseases [RCV003367535] Chr21:34670141 [GRCh38]
Chr21:36042440 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.951G>T (p.Glu317Asp) single nucleotide variant Inborn genetic diseases [RCV003383536] Chr21:34670339 [GRCh38]
Chr21:36042638 [GRCh37]
Chr21:21q22.12		 uncertain significance
NM_053277.3(CLIC6):c.1973C>T (p.Ala658Val) single nucleotide variant Inborn genetic diseases [RCV003351854] Chr21:34716394 [GRCh38]
Chr21:36088692 [GRCh37]
Chr21:21q22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_053277.3(CLIC6):c.651G>C (p.Gly217=) single nucleotide variant not provided [RCV003431481] Chr21:34670039 [GRCh38]
Chr21:36042338 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.735G>C (p.Arg245=) single nucleotide variant not provided [RCV003431482] Chr21:34670123 [GRCh38]
Chr21:36042422 [GRCh37]
Chr21:21q22.12		 likely benign
NM_053277.3(CLIC6):c.783A>G (p.Glu261=) single nucleotide variant not provided [RCV003431483] Chr21:34670171 [GRCh38]
Chr21:36042470 [GRCh37]
Chr21:21q22.12		 likely benign
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1334
Count of miRNA genes:500
Interacting mature miRNAs:532
Transcripts:ENST00000349499, ENST00000360731
Prediction methods:Miranda, Rnahybrid, Targetscan
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
SHGC-170123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,061,869 - 36,062,143UniSTSGRCh37
Build 362134,983,739 - 34,984,013RGDNCBI36
Celera2121,261,439 - 21,261,713RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,540,861 - 21,541,135UniSTS
TNG Radiation Hybrid Map2112395.0UniSTS
STS_CEB234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,041,966 - 36,042,601UniSTSGRCh37
Build 362134,963,836 - 34,964,471RGDNCBI36
Celera2121,241,536 - 21,242,171RGD
Cytogenetic Map21q22.12UniSTS
D21S65  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,089,085 - 36,089,276UniSTSGRCh37
Build 362135,010,955 - 35,011,146RGDNCBI36
Celera2121,288,658 - 21,288,849RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,568,068 - 21,568,259UniSTS
Whitehead-YAC Contig Map21 UniSTS
CLIC6_4585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,089,724 - 36,090,614UniSTSGRCh37
Build 362135,011,594 - 35,012,484RGDNCBI36
Celera2121,289,297 - 21,290,187RGD
HuRef2121,568,707 - 21,569,597UniSTS


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
High
Medium 370 190 731 158 362 9 1185 61 287 77 422 1118 149 546 511
Low 1666 1970 508 233 577 221 2794 1468 1416 243 817 329 17 1 646 1969
Below cutoff 310 724 444 202 711 204 330 636 1918 61 157 71 4 12 306 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF308293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF426169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA442589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349499   ⟹   ENSP00000290332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,668,994 - 34,718,223 (+)Ensembl
RefSeq Acc Id: ENST00000360731   ⟹   ENSP00000353959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,669,389 - 34,718,227 (+)Ensembl
RefSeq Acc Id: NM_001317009   ⟹   NP_001303938
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,668,994 - 34,718,223 (+)NCBI
CHM1_12135,603,758 - 35,652,814 (+)NCBI
T2T-CHM13v2.02133,051,578 - 33,100,790 (+)NCBI
Sequence:
RefSeq Acc Id: NM_053277   ⟹   NP_444507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,668,994 - 34,718,223 (+)NCBI
GRCh372136,041,612 - 36,090,525 (+)NCBI
Build 362134,963,558 - 35,012,389 (+)NCBI Archive
Celera2121,241,258 - 21,290,092 (+)RGD
HuRef2121,520,561 - 21,569,502 (+)RGD
CHM1_12135,603,758 - 35,652,814 (+)NCBI
T2T-CHM13v2.02133,051,578 - 33,100,790 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_444507   ⟸   NM_053277
- Peptide Label: isoform 2
- UniProtKB: Q96NY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303938   ⟸   NM_001317009
- Peptide Label: isoform 1
- UniProtKB: A8K0U8 (UniProtKB/Swiss-Prot),   Q8IX31 (UniProtKB/Swiss-Prot),   Q96NY7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000290332   ⟸   ENST00000349499
RefSeq Acc Id: ENSP00000353959   ⟸   ENST00000360731
Protein Domains
GST C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96NY7-F1-model_v2 AlphaFold Q96NY7 1-704 view protein structure

Promoters
RGD ID:13602736
Promoter ID:EPDNEW_H27553
Type:initiation region
Name:CLIC6_1
Description:chloride intracellular channel 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27554  EPDNEW_H27555  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,668,994 - 34,669,054EPDNEW
RGD ID:13602740
Promoter ID:EPDNEW_H27554
Type:multiple initiation site
Name:CLIC6_3
Description:chloride intracellular channel 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27553  EPDNEW_H27555  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,669,310 - 34,669,370EPDNEW
RGD ID:13602742
Promoter ID:EPDNEW_H27555
Type:initiation region
Name:CLIC6_2
Description:chloride intracellular channel 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27553  EPDNEW_H27554  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,669,465 - 34,669,525EPDNEW
RGD ID:6799379
Promoter ID:HG_KWN:40738
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000194156,   OTTHUMT00000194157
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,963,216 - 34,964,827 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2065 AgrOrtholog
COSMIC CLIC6 COSMIC
Ensembl Genes ENSG00000159212 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000349499 ENTREZGENE
  ENST00000349499.3 UniProtKB/Swiss-Prot
  ENST00000360731 ENTREZGENE
  ENST00000360731.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1050.10 UniProtKB/Swiss-Prot
  Glutaredoxin UniProtKB/Swiss-Prot
GTEx ENSG00000159212 GTEx
HGNC ID HGNC:2065 ENTREZGENE
Human Proteome Map CLIC6 Human Proteome Map
InterPro CLIC UniProtKB/Swiss-Prot
  Glutathione-S-Trfase_C-like UniProtKB/Swiss-Prot
  Glutathione-S-Trfase_C_sf UniProtKB/Swiss-Prot
  Glutathione_S-Trfase UniProtKB/Swiss-Prot
  Glutathione_S-Trfase_N UniProtKB/Swiss-Prot
  Thioredoxin-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:54102 UniProtKB/Swiss-Prot
NCBI Gene 54102 ENTREZGENE
OMIM 615321 OMIM
PANTHER CHLORIDE INTRACELLULAR CHANNEL PROTEIN 6-RELATED UniProtKB/Swiss-Prot
  PTHR45476:SF1 UniProtKB/Swiss-Prot
Pfam GST_N_2 UniProtKB/Swiss-Prot
PharmGKB PA26593 PharmGKB
PRINTS INTCLCHANNEL UniProtKB/Swiss-Prot
PROSITE GST_CTER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47616 UniProtKB/Swiss-Prot
  SSF52833 UniProtKB/Swiss-Prot
UniProt A8K0U8 ENTREZGENE
  CLIC6_HUMAN UniProtKB/Swiss-Prot
  Q8IX31 ENTREZGENE
  Q96NY7 ENTREZGENE
UniProt Secondary A8K0U8 UniProtKB/Swiss-Prot
  Q8IX31 UniProtKB/Swiss-Prot