SOCS6 (suppressor of cytokine signaling 6) - Rat Genome Database

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Gene: SOCS6 (suppressor of cytokine signaling 6) Homo sapiens
Analyze
Symbol: SOCS6
Name: suppressor of cytokine signaling 6
RGD ID: 1312180
HGNC Page HGNC:16833
Description: Predicted to enable signaling adaptor activity. Acts upstream of or within proteasomal protein catabolic process. Located in immunological synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CIS-4; CIS4; cytokine-inducible SH2 protein 4; HSPC060; SOCS-4; SOCS-6; SOCS4; SSI4; STAI4; STAT induced STAT inhibitor-4; STATI4; suppressor of cytokine signaling 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AP002370.1   SOCS6P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381870,289,045 - 70,330,199 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1870,289,045 - 70,330,199 (+)EnsemblGRCh38hg38GRCh38
GRCh371867,956,281 - 67,997,435 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361866,107,117 - 66,148,414 (+)NCBINCBI36Build 36hg18NCBI36
Build 341866,107,242 - 66,145,328NCBI
Celera1864,803,527 - 64,844,775 (+)NCBICelera
Cytogenetic Map18q22.2NCBI
HuRef1864,675,129 - 64,716,511 (+)NCBIHuRef
CHM1_11867,951,383 - 67,992,682 (+)NCBICHM1_1
T2T-CHM13v2.01870,504,115 - 70,545,262 (+)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Attenuation of leptin and insulin signaling by SOCS proteins. Howard JK and Flier JS, Trends Endocrinol Metab. 2006 Nov;17(9):365-71. Epub 2006 Sep 28.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Inhibitors of cytokine signal transduction. Wormald S and Hilton DJ, J Biol Chem 2004 Jan 9;279(2):821-4. Epub 2003 Nov 7.
Additional References at PubMed
PMID:9344848   PMID:11042152   PMID:11342531   PMID:12052866   PMID:12076535   PMID:12477932   PMID:14702039   PMID:14707129   PMID:15761153   PMID:16643902   PMID:17210122   PMID:17603019  
PMID:18204098   PMID:19646809   PMID:19716864   PMID:19913121   PMID:20007709   PMID:20379614   PMID:20628086   PMID:21030588   PMID:21048031   PMID:21145461   PMID:21873635   PMID:21988832  
PMID:22081311   PMID:22363434   PMID:22939624   PMID:22952242   PMID:22955947   PMID:22973453   PMID:23414517   PMID:23455924   PMID:23475171   PMID:23653113   PMID:24210661   PMID:24658140  
PMID:24728074   PMID:24801601   PMID:25025962   PMID:25180228   PMID:25402006   PMID:25814554   PMID:26183850   PMID:26186194   PMID:26496610   PMID:28423484   PMID:28514442   PMID:28731203  
PMID:28883622   PMID:28986253   PMID:29295692   PMID:30737371   PMID:31144533   PMID:31253590   PMID:32165166   PMID:32296183   PMID:32587662   PMID:32814053   PMID:33589592   PMID:33689885  
PMID:33710445   PMID:33712005   PMID:33961781   PMID:34100174   PMID:34895274   PMID:35038704   PMID:35337019   PMID:35907010   PMID:37704626   PMID:37972389   PMID:38766781  


Genomics

Comparative Map Data
SOCS6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381870,289,045 - 70,330,199 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1870,289,045 - 70,330,199 (+)EnsemblGRCh38hg38GRCh38
GRCh371867,956,281 - 67,997,435 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361866,107,117 - 66,148,414 (+)NCBINCBI36Build 36hg18NCBI36
Build 341866,107,242 - 66,145,328NCBI
Celera1864,803,527 - 64,844,775 (+)NCBICelera
Cytogenetic Map18q22.2NCBI
HuRef1864,675,129 - 64,716,511 (+)NCBIHuRef
CHM1_11867,951,383 - 67,992,682 (+)NCBICHM1_1
T2T-CHM13v2.01870,504,115 - 70,545,262 (+)NCBIT2T-CHM13v2.0
Socs6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391888,883,293 - 88,912,623 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1888,683,348 - 88,945,605 (-)EnsemblGRCm39 Ensembl
GRCm381888,865,169 - 88,894,364 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1888,665,224 - 88,927,481 (-)EnsemblGRCm38mm10GRCm38
MGSCv371889,037,272 - 89,063,599 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361889,002,071 - 89,028,400 (-)NCBIMGSCv36mm8
Celera1890,595,043 - 90,615,952 (-)NCBICelera
Cytogenetic Map18E4NCBI
cM Map1858.66NCBI
Socs6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81884,386,587 - 84,413,927 (-)NCBIGRCr8
mRatBN7.21882,111,866 - 82,139,193 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1882,111,827 - 82,139,219 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1884,181,347 - 84,199,267 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01884,854,573 - 84,872,495 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01882,722,714 - 82,740,644 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01885,962,729 - 85,981,125 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1885,962,729 - 85,980,833 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01885,005,240 - 85,023,344 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41885,722,868 - 85,725,214 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11885,796,321 - 85,798,793 (-)NCBI
Celera1880,666,098 - 80,684,203 (-)NCBICelera
Cytogenetic Map18q13NCBI
Socs6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540253,852,510 - 53,876,245 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540253,847,859 - 53,876,245 (+)NCBIChiLan1.0ChiLan1.0
SOCS6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21787,817,792 - 87,861,022 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11873,510,442 - 73,578,231 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01863,666,761 - 63,710,085 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11866,957,394 - 67,000,015 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1866,994,489 - 66,996,096 (+)Ensemblpanpan1.1panPan2
SOCS6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.118,078,500 - 8,117,651 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl18,082,389 - 8,083,996 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha19,053,320 - 9,127,874 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.017,914,975 - 7,954,235 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl17,914,977 - 7,954,284 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.117,900,976 - 7,975,745 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.017,889,975 - 7,929,220 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.018,099,778 - 8,139,047 (-)NCBIUU_Cfam_GSD_1.0
Socs6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494421,889,210 - 21,907,684 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936964174,165 - 179,813 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOCS6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1152,593,653 - 152,636,650 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11152,593,647 - 152,636,645 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21168,991,451 - 168,993,887 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SOCS6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1189,445,820 - 9,488,125 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl189,449,740 - 9,451,347 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606016,327,085 - 16,369,287 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Socs6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480610,921,204 - 10,949,108 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOCS6
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|See cases [RCV000053903] Chr18:67078720..77675655 [GRCh38]
Chr18:64745957..75387611 [GRCh37]
Chr18:62896937..73516599 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.2(chr18:70046020-70849885)x1 copy number loss See cases [RCV000133992] Chr18:70046020..70849885 [GRCh38]
Chr18:67713256..68517121 [GRCh37]
Chr18:65864236..66668101 [NCBI36]
Chr18:18q22.2		 uncertain significance
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-22.2(chr18:68865247-70895521)x1 copy number loss See cases [RCV000137125] Chr18:68865247..70895521 [GRCh38]
Chr18:66532484..68562757 [GRCh37]
Chr18:64683464..66713737 [NCBI36]
Chr18:18q22.1-22.2		 uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-22.2(chr18:64501813-67982798)x1 copy number loss See cases [RCV000448919] Chr18:64501813..67982798 [GRCh37]
Chr18:18q22.1-22.2		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.2-22.3(chr18:67961863-68874607)x1 copy number loss See cases [RCV000511965] Chr18:67961863..68874607 [GRCh37]
Chr18:18q22.2-22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_004232.4(SOCS6):c.215G>A (p.Ser72Asn) single nucleotide variant not specified [RCV004309316] Chr18:70324883 [GRCh38]
Chr18:67992119 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-22.3(chr18:66179104-68793656)x1 copy number loss not provided [RCV000684032] Chr18:66179104..68793656 [GRCh37]
Chr18:18q22.1-22.3		 likely pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.2(chr18:67948111-67960314)x0 copy number loss not provided [RCV000752397] Chr18:67948111..67960314 [GRCh37]
Chr18:18q22.2		 benign
GRCh37/hg19 18q22.2(chr18:67953721-67960314)x1 copy number loss not provided [RCV000752399] Chr18:67953721..67960314 [GRCh37]
Chr18:18q22.2		 benign
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-22.2(chr18:62621671-68276973)x1 copy number loss not provided [RCV001006998] Chr18:62621671..68276973 [GRCh37]
Chr18:18q22.1-22.2		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_004232.4(SOCS6):c.189C>T (p.Gly63=) single nucleotide variant not provided [RCV000894884] Chr18:70324857 [GRCh38]
Chr18:67992093 [GRCh37]
Chr18:18q22.2		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1 copy number loss not provided [RCV001007009] Chr18:66620343..74065460 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1 copy number loss not provided [RCV001007010] Chr18:61994711..74293556 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-22.3(chr18:63585740-70885038)x3 copy number gain not provided [RCV001007002] Chr18:63585740..70885038 [GRCh37]
Chr18:18q22.1-22.3		 likely pathogenic
NM_004232.4(SOCS6):c.778C>T (p.Arg260Cys) single nucleotide variant not specified [RCV004311839] Chr18:70325446 [GRCh38]
Chr18:67992682 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q22.1-22.2(chr18:64809285-68568490)x1 copy number loss not provided [RCV001006999] Chr18:64809285..68568490 [GRCh37]
Chr18:18q22.1-22.2		 likely pathogenic|uncertain significance
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 copy number loss not provided [RCV002472600] Chr18:66530142..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q22.1-22.3(chr18:65736299-69297115)x1 copy number loss not provided [RCV001259358] Chr18:65736299..69297115 [GRCh37]
Chr18:18q22.1-22.3		 likely pathogenic
GRCh37/hg19 18q22.1-22.3(chr18:66697605-69608331)x1 copy number loss not provided [RCV001259359] Chr18:66697605..69608331 [GRCh37]
Chr18:18q22.1-22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) copy number loss not specified [RCV002052652] Chr18:64340599..77273893 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-22.3(chr18:67122560-69682534) copy number gain not specified [RCV002052656] Chr18:67122560..69682534 [GRCh37]
Chr18:18q22.2-22.3		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-22.2(chr18:64501813-67982798) copy number loss not specified [RCV002052653] Chr18:64501813..67982798 [GRCh37]
Chr18:18q22.1-22.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.2-22.3(chr18:67770444-70633671) copy number loss not specified [RCV002052660] Chr18:67770444..70633671 [GRCh37]
Chr18:18q22.2-22.3		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_004232.4(SOCS6):c.373A>G (p.Thr125Ala) single nucleotide variant not specified [RCV004240627] Chr18:70325041 [GRCh38]
Chr18:67992277 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.1542A>G (p.Ile514Met) single nucleotide variant not specified [RCV004183124] Chr18:70326210 [GRCh38]
Chr18:67993446 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.200G>A (p.Arg67Lys) single nucleotide variant not specified [RCV004086245] Chr18:70324868 [GRCh38]
Chr18:67992104 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.172G>A (p.Gly58Ser) single nucleotide variant not specified [RCV004113124] Chr18:70324840 [GRCh38]
Chr18:67992076 [GRCh37]
Chr18:18q22.2		 likely benign
NM_004232.4(SOCS6):c.913G>A (p.Asp305Asn) single nucleotide variant not specified [RCV004213467] Chr18:70325581 [GRCh38]
Chr18:67992817 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.29G>A (p.Arg10Gln) single nucleotide variant not specified [RCV004308560] Chr18:70324697 [GRCh38]
Chr18:67991933 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 copy number loss Deletion of long arm of chromosome 18 [RCV003225711] Chr18:66459747..78012829 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_004232.4(SOCS6):c.272C>G (p.Ala91Gly) single nucleotide variant not specified [RCV004331735] Chr18:70324940 [GRCh38]
Chr18:67992176 [GRCh37]
Chr18:18q22.2		 likely benign
NM_004232.4(SOCS6):c.893A>G (p.Gln298Arg) single nucleotide variant not specified [RCV004249154] Chr18:70325561 [GRCh38]
Chr18:67992797 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV003319595] Chr18:66057406..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_004232.4(SOCS6):c.266G>T (p.Gly89Val) single nucleotide variant not specified [RCV004351667] Chr18:70324934 [GRCh38]
Chr18:67992170 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.634G>A (p.Val212Ile) single nucleotide variant not specified [RCV004337116] Chr18:70325302 [GRCh38]
Chr18:67992538 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q22.1-22.3(chr18:64152677-69191894)x1 copy number loss not provided [RCV003483342] Chr18:64152677..69191894 [GRCh37]
Chr18:18q22.1-22.3		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3 copy number gain not specified [RCV003986100] Chr18:58508272..70495604 [GRCh37]
Chr18:18q21.32-22.3		 likely pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3 copy number gain not provided [RCV004442786] Chr18:65549783..78013728 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_004232.4(SOCS6):c.989C>G (p.Thr330Ser) single nucleotide variant not specified [RCV004464796] Chr18:70325657 [GRCh38]
Chr18:67992893 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.1018A>G (p.Met340Val) single nucleotide variant not specified [RCV004464789] Chr18:70325686 [GRCh38]
Chr18:67992922 [GRCh37]
Chr18:18q22.2		 likely benign
NM_004232.4(SOCS6):c.223G>T (p.Gly75Cys) single nucleotide variant not specified [RCV004464791] Chr18:70324891 [GRCh38]
Chr18:67992127 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.500C>A (p.Ala167Asp) single nucleotide variant not specified [RCV004464794] Chr18:70325168 [GRCh38]
Chr18:67992404 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.974A>C (p.Asn325Thr) single nucleotide variant not specified [RCV004464795] Chr18:70325642 [GRCh38]
Chr18:67992878 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.485C>G (p.Ser162Cys) single nucleotide variant not specified [RCV004464793] Chr18:70325153 [GRCh38]
Chr18:67992389 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.1502A>T (p.Gln501Leu) single nucleotide variant not specified [RCV004464790] Chr18:70326170 [GRCh38]
Chr18:67993406 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.407C>T (p.Pro136Leu) single nucleotide variant not specified [RCV004670481] Chr18:70325075 [GRCh38]
Chr18:67992311 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.853G>A (p.Val285Met) single nucleotide variant not specified [RCV004679170] Chr18:70325521 [GRCh38]
Chr18:67992757 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.905C>T (p.Ala302Val) single nucleotide variant not specified [RCV004670482] Chr18:70325573 [GRCh38]
Chr18:67992809 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.593A>G (p.Asn198Ser) single nucleotide variant not specified [RCV004670483] Chr18:70325261 [GRCh38]
Chr18:67992497 [GRCh37]
Chr18:18q22.2		 uncertain significance
GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3 copy number gain not provided [RCV004819282] Chr18:56102873..74360560 [GRCh37]
Chr18:18q21.31-23		 likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q22.2-22.3(chr18:67599841-72655627)x1 copy number loss not provided [RCV004819900] Chr18:67599841..72655627 [GRCh37]
Chr18:18q22.2-22.3		 uncertain significance
NM_004232.4(SOCS6):c.364A>G (p.Ile122Val) single nucleotide variant not specified [RCV004868246] Chr18:70325032 [GRCh38]
Chr18:67992268 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.298G>A (p.Asp100Asn) single nucleotide variant not specified [RCV004864846] Chr18:70324966 [GRCh38]
Chr18:67992202 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.719A>G (p.Tyr240Cys) single nucleotide variant not specified [RCV004864847] Chr18:70325387 [GRCh38]
Chr18:67992623 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.1367A>G (p.Asp456Gly) single nucleotide variant not specified [RCV004864848] Chr18:70326035 [GRCh38]
Chr18:67993271 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.826G>A (p.Ala276Thr) single nucleotide variant not specified [RCV004868245] Chr18:70325494 [GRCh38]
Chr18:67992730 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.1214C>A (p.Ser405Tyr) single nucleotide variant not specified [RCV004868247] Chr18:70325882 [GRCh38]
Chr18:67993118 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.331A>G (p.Ile111Val) single nucleotide variant not specified [RCV004868248] Chr18:70324999 [GRCh38]
Chr18:67992235 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.351A>C (p.Arg117Ser) single nucleotide variant not specified [RCV004868249] Chr18:70325019 [GRCh38]
Chr18:67992255 [GRCh37]
Chr18:18q22.2		 uncertain significance
NM_004232.4(SOCS6):c.554A>T (p.Gln185Leu) single nucleotide variant not specified [RCV004868244] Chr18:70325222 [GRCh38]
Chr18:67992458 [GRCh37]
Chr18:18q22.2		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR203Ahsa-miR-203aMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22917968

Predicted Target Of
Summary Value
Count of predictions:1750
Count of miRNA genes:835
Interacting mature miRNAs:992
Transcripts:ENST00000397942, ENST00000578377, ENST00000582322
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597133287GWAS1229361_Hmemory performance QTL GWAS1229361 (human)0.000004memory performance187029431370294314Human
596982625GWAS1102144_Hmemory performance QTL GWAS1102144 (human)0.000004memory performance187029431370294314Human
1549953MULTSCL1_HMultiple sclerosis susceptibility QTL 1 (human)3.42Multiple sclerosis susceptibility186405627080373285Human
597334738GWAS1430812_HCOVID-19 QTL GWAS1430812 (human)0.000004COVID-19187031652870316529Human
597335042GWAS1431116_HCOVID-19 QTL GWAS1431116 (human)0.0000009COVID-19187031652870316529Human

Markers in Region
STS-N33129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,994,164 - 67,994,298UniSTSGRCh37
Build 361866,145,144 - 66,145,278RGDNCBI36
Celera1864,841,505 - 64,841,639RGD
Cytogenetic Map18q22.2UniSTS
HuRef1864,713,241 - 64,713,375UniSTS
GeneMap99-GB4 RH Map18444.64UniSTS
RH94380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,997,055 - 67,997,221UniSTSGRCh37
Build 361866,148,035 - 66,148,201RGDNCBI36
Celera1864,844,396 - 64,844,562RGD
Cytogenetic Map18q22.2UniSTS
HuRef1864,716,132 - 64,716,298UniSTS
GeneMap99-GB4 RH Map18452.0UniSTS
RH122148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,957,415 - 67,957,743UniSTSGRCh37
Build 361866,108,395 - 66,108,723RGDNCBI36
Celera1864,804,805 - 64,805,133RGD
Cytogenetic Map18q22.2UniSTS
HuRef1864,676,349 - 64,676,677UniSTS
TNG Radiation Hybrid Map1828186.0UniSTS
G62762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,960,178 - 67,960,451UniSTSGRCh37
Build 361866,111,158 - 66,111,431RGDNCBI36
Celera1864,807,568 - 64,807,841RGD
Cytogenetic Map18q22.2UniSTS
HuRef1864,679,112 - 64,679,385UniSTS
TNG Radiation Hybrid Map1828180.0UniSTS
SOCS6_2453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,993,734 - 67,994,402UniSTSGRCh37
Build 361866,144,714 - 66,145,382RGDNCBI36
Celera1864,841,075 - 64,841,743RGD
HuRef1864,712,811 - 64,713,479UniSTS
AB060232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,997,071 - 67,997,220UniSTSGRCh37
Build 361866,148,051 - 66,148,200RGDNCBI36
Celera1864,844,412 - 64,844,561RGD
HuRef1864,716,148 - 64,716,297UniSTS
ksks24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371867,993,129 - 67,993,476UniSTSGRCh37
Celera1864,840,470 - 64,840,817UniSTS
HuRef1864,712,206 - 64,712,553UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2248 4970 1726 2350 5 623 1911 465 2269 7265 6432 52 3732 1 850 1742 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000397942   ⟹   ENSP00000381034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1870,289,045 - 70,330,199 (+)Ensembl
Ensembl Acc Id: ENST00000578377   ⟹   ENSP00000463064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1870,296,599 - 70,325,351 (+)Ensembl
Ensembl Acc Id: ENST00000582322   ⟹   ENSP00000463395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1870,314,190 - 70,327,116 (+)Ensembl
RefSeq Acc Id: NM_004232   ⟹   NP_004223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,045 - 70,330,199 (+)NCBI
GRCh371867,956,137 - 67,997,435 (+)NCBI
Build 361866,107,117 - 66,148,414 (+)NCBI Archive
HuRef1864,675,129 - 64,716,511 (+)NCBI
CHM1_11867,951,383 - 67,992,682 (+)NCBI
T2T-CHM13v2.01870,504,115 - 70,545,262 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266783   ⟹   XP_005266840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,668 - 70,330,199 (+)NCBI
GRCh371867,956,137 - 67,997,435 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026086   ⟹   XP_016881575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,314,099 - 70,330,199 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026087   ⟹   XP_016881576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,045 - 70,330,199 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437937   ⟹   XP_047293893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,897 - 70,330,199 (+)NCBI
RefSeq Acc Id: XM_047437938   ⟹   XP_047293894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,314,099 - 70,330,199 (+)NCBI
RefSeq Acc Id: XM_047437939   ⟹   XP_047293895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,321,603 - 70,330,199 (+)NCBI
RefSeq Acc Id: XM_047437940   ⟹   XP_047293896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,045 - 70,330,199 (+)NCBI
RefSeq Acc Id: XM_047437941   ⟹   XP_047293897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,290,741 - 70,330,199 (+)NCBI
RefSeq Acc Id: XM_047437942   ⟹   XP_047293898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,295,079 - 70,330,199 (+)NCBI
RefSeq Acc Id: NP_004223   ⟸   NM_004232
- UniProtKB: Q8WUM3 (UniProtKB/Swiss-Prot),   O14544 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266840   ⟸   XM_005266783
- Peptide Label: isoform X1
- UniProtKB: Q8WUM3 (UniProtKB/Swiss-Prot),   O14544 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016881576   ⟸   XM_017026087
- Peptide Label: isoform X1
- UniProtKB: Q8WUM3 (UniProtKB/Swiss-Prot),   O14544 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016881575   ⟸   XM_017026086
- Peptide Label: isoform X1
- UniProtKB: Q8WUM3 (UniProtKB/Swiss-Prot),   O14544 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000463395   ⟸   ENST00000582322
Ensembl Acc Id: ENSP00000463064   ⟸   ENST00000578377
Ensembl Acc Id: ENSP00000381034   ⟸   ENST00000397942
RefSeq Acc Id: XP_047293896   ⟸   XM_047437940
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293893   ⟸   XM_047437937
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293897   ⟸   XM_047437941
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293898   ⟸   XM_047437942
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293894   ⟸   XM_047437938
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293895   ⟸   XM_047437939
- Peptide Label: isoform X1
- UniProtKB: O14544 (UniProtKB/Swiss-Prot),   Q8WUM3 (UniProtKB/Swiss-Prot)
Protein Domains
SH2   SOCS box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14544-F1-model_v2 AlphaFold O14544 1-535 view protein structure

Promoters
RGD ID:6795009
Promoter ID:HG_KWN:28206
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256270
Position:
Human AssemblyChrPosition (strand)Source
Build 361866,107,044 - 66,107,544 (+)MPROMDB
RGD ID:7237573
Promoter ID:EPDNEW_H24532
Type:initiation region
Name:SOCS6_2
Description:suppressor of cytokine signaling 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,288,895 - 70,288,955EPDNEW
RGD ID:7237577
Promoter ID:EPDNEW_H24533
Type:initiation region
Name:SOCS6_1
Description:suppressor of cytokine signaling 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381870,289,045 - 70,289,105EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16833 AgrOrtholog
COSMIC SOCS6 COSMIC
Ensembl Genes ENSG00000170677 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000397942 ENTREZGENE
  ENST00000397942.4 UniProtKB/Swiss-Prot
  ENST00000582322 ENTREZGENE
  ENST00000582322.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot
  SOCS box UniProtKB/Swiss-Prot
GTEx ENSG00000170677 GTEx
HGNC ID HGNC:16833 ENTREZGENE
Human Proteome Map SOCS6 Human Proteome Map
InterPro SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  SOCS6_SH2 UniProtKB/Swiss-Prot
  SOCS6_SOCS UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
  SOCS_box-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9306 UniProtKB/Swiss-Prot
NCBI Gene 9306 ENTREZGENE
OMIM 605118 OMIM
PANTHER PHOSPHATIDYLINOSITOL 3-KINASE REGULATORY SUBUNIT UniProtKB/Swiss-Prot
  SUPPRESSOR OF CYTOKINE SIGNALING 6 UniProtKB/Swiss-Prot
Pfam SH2 UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
PharmGKB PA134917653 PharmGKB
PROSITE SH2 UniProtKB/Swiss-Prot
  SOCS UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
  SOCS UniProtKB/Swiss-Prot
  SOCS_box UniProtKB/Swiss-Prot
Superfamily-SCOP SSF158235 UniProtKB/Swiss-Prot
  SSF55550 UniProtKB/Swiss-Prot
UniProt J3KTM7_HUMAN UniProtKB/TrEMBL
  O14544 ENTREZGENE
  Q8WUM3 ENTREZGENE
  SOCS6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8WUM3 UniProtKB/Swiss-Prot