RELCH (RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing) - Rat Genome Database

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Gene: RELCH (RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing) Homo sapiens
Analyze
Symbol: RELCH
Name: RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
RGD ID: 1316306
HGNC Page HGNC:29289
Description: Involved in intracellular cholesterol transport. Located in recycling endosome and trans-Golgi network.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ33841; HsT3308; HsT885; hypothetical protein LOC57614; KIAA1468; lisH domain and HEAT repeat-containing protein KIAA1468; RAB11-binding protein containing LisH, coiled-coil, and HEAT repeats; RAB11-binding protein RELCH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100418716  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381862,187,255 - 62,310,249 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1862,187,255 - 62,310,249 (+)EnsemblGRCh38hg38GRCh38
GRCh371859,854,488 - 59,977,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361858,005,504 - 58,125,335 (+)NCBINCBI36Build 36hg18NCBI36
Build 341858,039,436 - 58,124,183NCBI
Celera1856,573,751 - 56,693,583 (+)NCBICelera
Cytogenetic Map18q21.33NCBI
HuRef1856,565,413 - 56,685,241 (+)NCBIHuRef
CHM1_11859,850,036 - 59,969,896 (+)NCBICHM1_1
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
endosome  (IEA)
Golgi apparatus  (IEA)
membrane  (IEA)
recycling endosome  (IBA,IDA,IEA)
trans-Golgi network  (IBA,IDA,IEA)

Molecular Function

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
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10819331   PMID:11973628   PMID:14702039   PMID:20379614   PMID:21873635   PMID:22863883   PMID:23383273   PMID:25659891   PMID:26186194   PMID:27173435   PMID:27433848   PMID:27880917  
PMID:28514442   PMID:29514919   PMID:29563501   PMID:29568061   PMID:30639242   PMID:31091453   PMID:31871319   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34709727   PMID:34761192  
PMID:35271311   PMID:35384245   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37232246   PMID:37536630   PMID:37827155  


Genomics

Comparative Map Data
RELCH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381862,187,255 - 62,310,249 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1862,187,255 - 62,310,249 (+)EnsemblGRCh38hg38GRCh38
GRCh371859,854,488 - 59,977,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361858,005,504 - 58,125,335 (+)NCBINCBI36Build 36hg18NCBI36
Build 341858,039,436 - 58,124,183NCBI
Celera1856,573,751 - 56,693,583 (+)NCBICelera
Cytogenetic Map18q21.33NCBI
HuRef1856,565,413 - 56,685,241 (+)NCBIHuRef
CHM1_11859,850,036 - 59,969,896 (+)NCBICHM1_1
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBIT2T-CHM13v2.0
Relch
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391105,591,570 - 105,682,856 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1105,591,586 - 105,682,916 (+)EnsemblGRCm39 Ensembl
GRCm381105,663,843 - 105,755,131 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1105,663,861 - 105,755,191 (+)EnsemblGRCm38mm10GRCm38
MGSCv371107,560,438 - 107,651,708 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361107,491,460 - 107,581,622 (+)NCBIMGSCv36mm8
Celera1108,513,201 - 108,605,107 (+)NCBICelera
Cytogenetic Map1E2.1NCBI
cM Map149.64NCBI
Relch
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81322,321,495 - 22,417,371 (+)NCBIGRCr8
mRatBN7.21321,806,972 - 21,902,807 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1321,806,972 - 21,902,807 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1322,126,914 - 22,221,880 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01323,411,708 - 23,506,675 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01322,095,598 - 22,190,568 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01325,656,983 - 25,752,792 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1325,656,983 - 25,752,792 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01330,820,433 - 30,915,037 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41311,834,138 - 11,930,253 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11311,834,129 - 11,930,186 (+)NCBI
Celera1321,677,556 - 21,772,993 (+)NCBICelera
Cytogenetic Map13p11NCBI
Relch
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540246,115,066 - 46,224,752 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540246,114,835 - 46,226,330 (+)NCBIChiLan1.0ChiLan1.0
RELCH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21779,708,286 - 79,828,153 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11865,400,899 - 65,520,766 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01855,557,276 - 55,677,161 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11858,875,414 - 58,995,036 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1858,875,013 - 58,995,036 (+)Ensemblpanpan1.1panPan2
RELCH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1114,573,377 - 14,683,795 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl114,579,381 - 14,683,555 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha115,540,823 - 15,651,209 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0114,433,980 - 14,544,526 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl114,438,444 - 14,544,504 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1114,469,992 - 14,580,356 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0114,403,202 - 14,513,576 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0114,649,996 - 14,760,492 (-)NCBIUU_Cfam_GSD_1.0
Relch
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494427,782,927 - 27,882,000 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364973,021,875 - 3,121,013 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364973,021,962 - 3,121,028 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RELCH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1159,207,616 - 159,317,675 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11159,207,951 - 159,317,675 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21176,670,499 - 176,781,315 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RELCH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11817,467,242 - 17,589,433 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1817,466,750 - 17,589,413 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660608,100,127 - 8,217,762 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Relch
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247927,916,395 - 8,014,167 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247927,916,354 - 8,012,976 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RELCH
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 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 18q21.32-21.33(chr18:61092555-63621755)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|See cases [RCV000053874] Chr18:61092555..63621755 [GRCh38]
Chr18:58759788..61288989 [GRCh37]
Chr18:56910768..59439969 [NCBI36]
Chr18:18q21.32-21.33		 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 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 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 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 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
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 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
NM_020854.3(KIAA1468):c.3516C>T (p.Val1172=) single nucleotide variant Malignant melanoma [RCV000071866] Chr18:62298846 [GRCh38]
Chr18:59966079 [GRCh37]
Chr18:58117059 [NCBI36]
Chr18:18q21.33		 not provided
NM_001346231.2(RELCH):c.1735C>A (p.Gln579Lys) single nucleotide variant not provided [RCV000122566] Chr18:62252665 [GRCh38]
Chr18:59919898 [GRCh37]
Chr18:18q21.33		 uncertain significance
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 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 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 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 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(chr18:61613338-80252090)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 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 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 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(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
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 18q21.33-23(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 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 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 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(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 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 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 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 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 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 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 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
NM_001346231.2(RELCH):c.698T>G (p.Val233Gly) single nucleotide variant not specified [RCV004295212] Chr18:62221228 [GRCh38]
Chr18:59888461 [GRCh37]
Chr18:18q21.33		 uncertain significance
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 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 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
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 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 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
NM_001346231.2(RELCH):c.1197A>G (p.Ala399=) single nucleotide variant not provided [RCV000920914] Chr18:62228347 [GRCh38]
Chr18:59895580 [GRCh37]
Chr18:18q21.33		 benign
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 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
NC_000018.10:g.(?_62045836)_(62464074_?)del deletion Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001033469] Chr18:59713069..60131307 [GRCh37]
Chr18:18q21.33		 pathogenic
NM_001346231.2(RELCH):c.903T>G (p.Pro301=) single nucleotide variant not provided [RCV000920913] Chr18:62227333 [GRCh38]
Chr18:59894566 [GRCh37]
Chr18:18q21.33		 likely benign
NC_000018.9:g.(?_59713069)_(60131307_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV000803267] Chr18:62045836..62464074 [GRCh38]
Chr18:59713069..60131307 [GRCh37]
Chr18:18q21.33		 uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NM_001346231.2(RELCH):c.3347C>G (p.Ala1116Gly) single nucleotide variant not specified [RCV004333226] Chr18:62287444 [GRCh38]
Chr18:59954677 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.203G>A (p.Arg68Gln) single nucleotide variant not specified [RCV004333238] Chr18:62187708 [GRCh38]
Chr18:59854941 [GRCh37]
Chr18:18q21.33		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NC_000018.9:g.(?_59805466)_(60131307_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001309949] Chr18:59805466..60131307 [GRCh37]
Chr18:18q21.33		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
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 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [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 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NC_000018.9:g.(?_59713089)_(60052267_?)dup duplication not provided [RCV001952957] Chr18:59713089..60052267 [GRCh37]
Chr18:18q21.33		 uncertain significance
NC_000018.9:g.(?_59713089)_(61654512_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002029497] Chr18:59713089..61654512 [GRCh37]
Chr18:18q21.33-22.1		 uncertain significance
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 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001346231.2(RELCH):c.1648G>A (p.Ala550Thr) single nucleotide variant not specified [RCV004271831] Chr18:62244791 [GRCh38]
Chr18:59912024 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2227C>A (p.His743Asn) single nucleotide variant not specified [RCV004265750] Chr18:62261535 [GRCh38]
Chr18:59928768 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.469G>T (p.Gly157Cys) single nucleotide variant not specified [RCV004312852] Chr18:62187974 [GRCh38]
Chr18:59855207 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.935G>T (p.Gly312Val) single nucleotide variant not specified [RCV004277611] Chr18:62227365 [GRCh38]
Chr18:59894598 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1361C>G (p.Pro454Arg) single nucleotide variant not specified [RCV004354783] Chr18:62228511 [GRCh38]
Chr18:59895744 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2760+496T>G single nucleotide variant not provided [RCV003423108] Chr18:62269444 [GRCh38]
Chr18:59936677 [GRCh37]
Chr18:18q21.33		 likely benign
NM_001346231.2(RELCH):c.3126A>C (p.Arg1042Ser) single nucleotide variant not specified [RCV003457232] Chr18:62282317 [GRCh38]
Chr18:59949550 [GRCh37]
Chr18:18q21.33		 benign
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_001346231.2(RELCH):c.1208C>T (p.Ser403Phe) single nucleotide variant not specified [RCV004443816] Chr18:62228358 [GRCh38]
Chr18:59895591 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1493G>A (p.Arg498Gln) single nucleotide variant not specified [RCV004443818] Chr18:62231238 [GRCh38]
Chr18:59898471 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2186T>C (p.Ile729Thr) single nucleotide variant not specified [RCV004443827] Chr18:62258660 [GRCh38]
Chr18:59925893 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.73G>A (p.Asp25Asn) single nucleotide variant not specified [RCV004443849] Chr18:62187578 [GRCh38]
Chr18:59854811 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2398A>G (p.Ile800Val) single nucleotide variant not specified [RCV004443831] Chr18:62264036 [GRCh38]
Chr18:59931269 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2401A>G (p.Ile801Val) single nucleotide variant not specified [RCV004443832] Chr18:62264039 [GRCh38]
Chr18:59931272 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2410C>T (p.Arg804Cys) single nucleotide variant not specified [RCV004443833] Chr18:62264048 [GRCh38]
Chr18:59931281 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.247G>A (p.Gly83Arg) single nucleotide variant not specified [RCV004443834] Chr18:62187752 [GRCh38]
Chr18:59854985 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004443836] Chr18:62187773 [GRCh38]
Chr18:59855006 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.3051-282C>T single nucleotide variant not specified [RCV004443838] Chr18:62280364 [GRCh38]
Chr18:59947597 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.3425G>A (p.Arg1142Gln) single nucleotide variant not specified [RCV004443842] Chr18:62291597 [GRCh38]
Chr18:59958830 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.3442C>T (p.Leu1148Phe) single nucleotide variant not specified [RCV004443843] Chr18:62291614 [GRCh38]
Chr18:59958847 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.944A>G (p.Gln315Arg) single nucleotide variant not specified [RCV004443850] Chr18:62227374 [GRCh38]
Chr18:59894607 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1609G>A (p.Ala537Thr) single nucleotide variant not specified [RCV004443821] Chr18:62232416 [GRCh38]
Chr18:59899649 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2025C>A (p.Asp675Glu) single nucleotide variant not specified [RCV004443824] Chr18:62258076 [GRCh38]
Chr18:59925309 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2232A>C (p.Lys744Asn) single nucleotide variant not specified [RCV004443828] Chr18:62261540 [GRCh38]
Chr18:59928773 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2794G>A (p.Glu932Lys) single nucleotide variant not specified [RCV004443837] Chr18:62274013 [GRCh38]
Chr18:59941246 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.31A>C (p.Ser11Arg) single nucleotide variant not specified [RCV004443839] Chr18:62187536 [GRCh38]
Chr18:59854769 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.32G>A (p.Ser11Asn) single nucleotide variant not specified [RCV004443841] Chr18:62187537 [GRCh38]
Chr18:59854770 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.530G>A (p.Arg177Gln) single nucleotide variant not specified [RCV004443845] Chr18:62211156 [GRCh38]
Chr18:59878389 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.559T>G (p.Leu187Val) single nucleotide variant not specified [RCV004443846] Chr18:62211185 [GRCh38]
Chr18:59878418 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.980G>A (p.Gly327Glu) single nucleotide variant not specified [RCV004443851] Chr18:62227410 [GRCh38]
Chr18:59894643 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2151A>C (p.Leu717Phe) single nucleotide variant not specified [RCV004443825] Chr18:62258625 [GRCh38]
Chr18:59925858 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2182A>G (p.Lys728Glu) single nucleotide variant not specified [RCV004443826] Chr18:62258656 [GRCh38]
Chr18:59925889 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.713G>A (p.Arg238Gln) single nucleotide variant not specified [RCV004443848] Chr18:62221243 [GRCh38]
Chr18:59888476 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.155C>G (p.Ala52Gly) single nucleotide variant not specified [RCV004443820] Chr18:62187660 [GRCh38]
Chr18:59854893 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1888T>C (p.Tyr630His) single nucleotide variant not specified [RCV004443823] Chr18:62255470 [GRCh38]
Chr18:59922703 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.227C>T (p.Ser76Leu) single nucleotide variant not specified [RCV004443830] Chr18:62187732 [GRCh38]
Chr18:59854965 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.263C>A (p.Thr88Asn) single nucleotide variant not specified [RCV004443835] Chr18:62187768 [GRCh38]
Chr18:59855001 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.3229G>A (p.Ala1077Thr) single nucleotide variant not specified [RCV004443840] Chr18:62282420 [GRCh38]
Chr18:59949653 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.69T>A (p.Asp23Glu) single nucleotide variant not specified [RCV004443847] Chr18:62187574 [GRCh38]
Chr18:59854807 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.440T>C (p.Met147Thr) single nucleotide variant not specified [RCV004443844] Chr18:62187945 [GRCh38]
Chr18:59855178 [GRCh37]
Chr18:18q21.33		 uncertain significance
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 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 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
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 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 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 18q21.1-23(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 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 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 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1		 benign
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 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)del deletion Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001898809]|not provided [RCV001909119] Chr18:59713089..61654512 [GRCh37]
Chr18:18q21.33-22.1		 pathogenic|no classifications from unflagged records
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 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.(?_59805456)_(60052267_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV003113878] Chr18:59805456..60052267 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.2561G>C (p.Cys854Ser) single nucleotide variant not specified [RCV004270879] Chr18:62264782 [GRCh38]
Chr18:59932015 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.3419G>A (p.Cys1140Tyr) single nucleotide variant not specified [RCV004248125] Chr18:62291591 [GRCh38]
Chr18:59958824 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1054C>T (p.Pro352Ser) single nucleotide variant not specified [RCV004278487] Chr18:62227484 [GRCh38]
Chr18:59894717 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.933T>G (p.Phe311Leu) single nucleotide variant not specified [RCV004346373] Chr18:62227363 [GRCh38]
Chr18:59894596 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1339A>G (p.Thr447Ala) single nucleotide variant not specified [RCV004341393] Chr18:62228489 [GRCh38]
Chr18:59895722 [GRCh37]
Chr18:18q21.33		 uncertain significance
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
NM_001346231.2(RELCH):c.1355A>G (p.Asn452Ser) single nucleotide variant not specified [RCV004443817] Chr18:62228505 [GRCh38]
Chr18:59895738 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1555G>A (p.Val519Ile) single nucleotide variant not specified [RCV004443819] Chr18:62232362 [GRCh38]
Chr18:59899595 [GRCh37]
Chr18:18q21.33		 uncertain significance
NM_001346231.2(RELCH):c.1829A>C (p.Asn610Thr) single nucleotide variant not specified [RCV004443822] Chr18:62255411 [GRCh38]
Chr18:59922644 [GRCh37]
Chr18:18q21.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2066
Count of miRNA genes:847
Interacting mature miRNAs:986
Transcripts:ENST00000256858, ENST00000398130, ENST00000586920, ENST00000587198, ENST00000587714, ENST00000587725, ENST00000587764, ENST00000588446, ENST00000590713, ENST00000591227, ENST00000592479, ENST00000593217
Prediction methods:Microtar, 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
D18S60  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371859,862,422 - 59,862,571UniSTSGRCh37
GRCh371859,862,420 - 59,862,576UniSTSGRCh37
Build 361858,013,400 - 58,013,556RGDNCBI36
Celera1856,581,649 - 56,581,798UniSTS
Celera1856,581,647 - 56,581,803RGD
Cytogenetic Map18q21.33UniSTS
HuRef1856,573,311 - 56,573,460UniSTS
HuRef1856,573,309 - 56,573,465UniSTS
Marshfield Genetic Map1891.62UniSTS
Marshfield Genetic Map1891.62RGD
Genethon Genetic Map1889.7UniSTS
TNG Radiation Hybrid Map1824634.0UniSTS
Stanford-G3 RH Map182353.0UniSTS
GeneMap99-GB4 RH Map18410.51UniSTS
Whitehead-RH Map18454.1UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18735.6UniSTS
GeneMap99-G3 RH Map182353.0UniSTS
WI-21772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371859,972,892 - 59,973,095UniSTSGRCh37
Build 361858,123,872 - 58,124,075RGDNCBI36
Celera1856,692,120 - 56,692,323RGD
Cytogenetic Map18q21.33UniSTS
HuRef1856,683,778 - 56,683,981UniSTS
GeneMap99-GB4 RH Map18410.51UniSTS
Whitehead-RH Map18454.3UniSTS
NCBI RH Map18734.5UniSTS
D18S60  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.33UniSTS
TNG Radiation Hybrid Map1824634.0UniSTS
Stanford-G3 RH Map182353.0UniSTS
GeneMap99-GB4 RH Map18410.51UniSTS
NCBI RH Map18735.6UniSTS
GeneMap99-G3 RH Map182353.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1448 1282 1202 215 1057 73 3391 486 2169 209 1036 1473 157 1 819 1943 4 2
Low 991 1694 524 409 879 392 966 1711 1565 210 424 140 18 385 845 2
Below cutoff 15 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA632129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB040901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256858   ⟹   ENSP00000256858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,187,258 - 62,307,112 (+)Ensembl
RefSeq Acc Id: ENST00000398130   ⟹   ENSP00000381198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,187,274 - 62,307,829 (+)Ensembl
RefSeq Acc Id: ENST00000586920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,268,515 - 62,274,042 (+)Ensembl
RefSeq Acc Id: ENST00000587198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,280,326 - 62,298,848 (+)Ensembl
RefSeq Acc Id: ENST00000587714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,282,316 - 62,285,548 (+)Ensembl
RefSeq Acc Id: ENST00000587725   ⟹   ENSP00000468816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,187,291 - 62,275,571 (+)Ensembl
RefSeq Acc Id: ENST00000587764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,277,596 - 62,291,616 (+)Ensembl
RefSeq Acc Id: ENST00000588446   ⟹   ENSP00000464995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,261,611 - 62,275,572 (+)Ensembl
RefSeq Acc Id: ENST00000590713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,220,860 - 62,227,450 (+)Ensembl
RefSeq Acc Id: ENST00000591227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,228,440 - 62,254,711 (+)Ensembl
RefSeq Acc Id: ENST00000592479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,228,385 - 62,235,407 (+)Ensembl
RefSeq Acc Id: ENST00000593217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,282,320 - 62,285,973 (+)Ensembl
RefSeq Acc Id: ENST00000644646   ⟹   ENSP00000494314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1862,187,255 - 62,310,249 (+)Ensembl
RefSeq Acc Id: NM_001346229   ⟹   NP_001333158
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346230   ⟹   NP_001333159
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346231   ⟹   NP_001333160
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346233   ⟹   NP_001333162
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346234   ⟹   NP_001333163
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346235   ⟹   NP_001333164
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020854   ⟹   NP_065905
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
GRCh371859,854,506 - 59,974,355 (+)NCBI
Build 361858,005,504 - 58,125,335 (+)NCBI Archive
Celera1856,573,751 - 56,693,583 (+)RGD
HuRef1856,565,413 - 56,685,241 (+)RGD
CHM1_11859,850,036 - 59,969,896 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144403
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144404
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144405
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144406
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144407
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144408
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144409
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144410
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144412
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526111   ⟹   XP_011524413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526112   ⟹   XP_011524414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526117   ⟹   XP_011524419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,235,497 - 62,310,249 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437685   ⟹   XP_047293641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
RefSeq Acc Id: XM_047437686   ⟹   XP_047293642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,310,249 (+)NCBI
RefSeq Acc Id: XM_047437687   ⟹   XP_047293643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,284,361 (+)NCBI
RefSeq Acc Id: XM_047437688   ⟹   XP_047293644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,287,408 (+)NCBI
RefSeq Acc Id: XM_047437689   ⟹   XP_047293645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,284,361 (+)NCBI
RefSeq Acc Id: XM_047437690   ⟹   XP_047293646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,280,442 (+)NCBI
RefSeq Acc Id: XM_047437691   ⟹   XP_047293647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,280,124 (+)NCBI
RefSeq Acc Id: XM_047437692   ⟹   XP_047293648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,278,158 (+)NCBI
RefSeq Acc Id: XM_047437693   ⟹   XP_047293649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,278,158 (+)NCBI
RefSeq Acc Id: XM_047437694   ⟹   XP_047293650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,235,125 - 62,310,249 (+)NCBI
RefSeq Acc Id: XM_054318887   ⟹   XP_054174862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
RefSeq Acc Id: XM_054318888   ⟹   XP_054174863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
RefSeq Acc Id: XM_054318889   ⟹   XP_054174864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
RefSeq Acc Id: XM_054318890   ⟹   XP_054174865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,513,114 (+)NCBI
RefSeq Acc Id: XM_054318891   ⟹   XP_054174866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,487,220 (+)NCBI
RefSeq Acc Id: XM_054318892   ⟹   XP_054174867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,490,271 (+)NCBI
RefSeq Acc Id: XM_054318893   ⟹   XP_054174868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,487,220 (+)NCBI
RefSeq Acc Id: XM_054318894   ⟹   XP_054174869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,483,301 (+)NCBI
RefSeq Acc Id: XM_054318895   ⟹   XP_054174870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,483,301 (+)NCBI
RefSeq Acc Id: XM_054318896   ⟹   XP_054174871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,482,626 (+)NCBI
RefSeq Acc Id: XM_054318897   ⟹   XP_054174872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,482,626 (+)NCBI
RefSeq Acc Id: XM_054318898   ⟹   XP_054174873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,438,319 - 62,513,114 (+)NCBI
RefSeq Acc Id: XM_054318899   ⟹   XP_054174874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,437,947 - 62,513,114 (+)NCBI
RefSeq Acc Id: XR_008485019
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01862,390,065 - 62,490,271 (+)NCBI
RefSeq Acc Id: XR_935239
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,255 - 62,287,408 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001333158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333160 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333162 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333164 (Get FASTA)   NCBI Sequence Viewer  
  NP_065905 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524413 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524414 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524419 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293641 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293642 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293646 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293647 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293648 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293649 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293650 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174862 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174863 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174864 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174865 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174866 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174868 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174869 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174870 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174871 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174874 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11992 (Get FASTA)   NCBI Sequence Viewer  
  BAA95992 (Get FASTA)   NCBI Sequence Viewer  
  BAG37793 (Get FASTA)   NCBI Sequence Viewer  
  EAW63120 (Get FASTA)   NCBI Sequence Viewer  
  EAW63121 (Get FASTA)   NCBI Sequence Viewer  
  EAW63122 (Get FASTA)   NCBI Sequence Viewer  
  EAW63123 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000256858
  ENSP00000256858.5
  ENSP00000381198
  ENSP00000381198.2
  ENSP00000464995.1
  ENSP00000468816
  ENSP00000468816.1
  ENSP00000494314
  ENSP00000494314.1
GenBank Protein Q9P260 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_065905   ⟸   NM_020854
- Peptide Label: isoform c
- UniProtKB: Q9P260 (UniProtKB/Swiss-Prot),   A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524414   ⟸   XM_011526112
- Peptide Label: isoform X3
- UniProtKB: A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524413   ⟸   XM_011526111
- Peptide Label: isoform X1
- UniProtKB: A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524419   ⟸   XM_011526117
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: NP_001333164   ⟸   NM_001346235
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001333159   ⟸   NM_001346230
- Peptide Label: isoform b
- UniProtKB: A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333158   ⟸   NM_001346229
- Peptide Label: isoform a
- UniProtKB: Q9P260 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001333160   ⟸   NM_001346231
- Peptide Label: isoform g
- UniProtKB: A0A2R8Y566 (UniProtKB/TrEMBL),   A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333163   ⟸   NM_001346234
- Peptide Label: isoform e
- UniProtKB: A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333162   ⟸   NM_001346233
- Peptide Label: isoform d
- UniProtKB: A0A075B785 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381198   ⟸   ENST00000398130
RefSeq Acc Id: ENSP00000256858   ⟸   ENST00000256858
RefSeq Acc Id: ENSP00000468816   ⟸   ENST00000587725
RefSeq Acc Id: ENSP00000464995   ⟸   ENST00000588446
RefSeq Acc Id: ENSP00000494314   ⟸   ENST00000644646
RefSeq Acc Id: XP_047293641   ⟸   XM_047437685
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293642   ⟸   XM_047437686
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293644   ⟸   XM_047437688
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293645   ⟸   XM_047437689
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047293643   ⟸   XM_047437687
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293646   ⟸   XM_047437690
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293647   ⟸   XM_047437691
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293648   ⟸   XM_047437692
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293649   ⟸   XM_047437693
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047293650   ⟸   XM_047437694
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174864   ⟸   XM_054318889
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174862   ⟸   XM_054318887
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174863   ⟸   XM_054318888
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174865   ⟸   XM_054318890
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174867   ⟸   XM_054318892
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174868   ⟸   XM_054318893
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054174866   ⟸   XM_054318891
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174869   ⟸   XM_054318894
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054174870   ⟸   XM_054318895
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174871   ⟸   XM_054318896
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174872   ⟸   XM_054318897
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054174874   ⟸   XM_054318899
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174873   ⟸   XM_054318898
- Peptide Label: isoform X12
Protein Domains
LisH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P260-F1-model_v2 AlphaFold Q9P260 1-1216 view protein structure

Promoters
RGD ID:6794959
Promoter ID:HG_KWN:28133
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000256858,   NM_012327,   NM_176787,   OTTHUMT00000256187,   UC002LII.2,   UC002LIJ.2,   UC002LIK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361858,004,866 - 58,006,437 (-)MPROMDB
RGD ID:7237475
Promoter ID:EPDNEW_H24483
Type:initiation region
Name:KIAA1468_1
Description:KIAA1468
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381862,187,281 - 62,187,341EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29289 AgrOrtholog
COSMIC RELCH COSMIC
Ensembl Genes ENSG00000134444 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256858 ENTREZGENE
  ENST00000256858.10 UniProtKB/Swiss-Prot
  ENST00000398130 ENTREZGENE
  ENST00000398130.6 UniProtKB/Swiss-Prot
  ENST00000587725 ENTREZGENE
  ENST00000587725.5 UniProtKB/TrEMBL
  ENST00000588446.1 UniProtKB/TrEMBL
  ENST00000644646 ENTREZGENE
  ENST00000644646.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134444 GTEx
HGNC ID HGNC:29289 ENTREZGENE
Human Proteome Map RELCH Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT_type_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RELCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57614 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57614 ENTREZGENE
OMIM 618001 OMIM
PANTHER PTHR32059 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAB11-BINDING PROTEIN RELCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134865247 PharmGKB
PROSITE HEAT_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B768_HUMAN UniProtKB/TrEMBL
  A0A075B785 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y566 ENTREZGENE, UniProtKB/TrEMBL
  Q96ES0_HUMAN UniProtKB/TrEMBL
  Q9P260 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 RELCH  RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing  KIAA1468  KIAA1468  Symbol and/or name change 5135510 APPROVED