MOV10L1 (Mov10 like RNA helicase 1) - Rat Genome Database

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Gene: MOV10L1 (Mov10 like RNA helicase 1) Homo sapiens
Analyze
Symbol: MOV10L1
Name: Mov10 like RNA helicase 1 (Ensembl:Mov10 like RISC complex RNA helicase 1)
RGD ID: 1345883
HGNC Page HGNC:7201
Description: Predicted to enable RNA helicase activity and piRNA binding activity. Involved in germ cell development and spermatogenesis. Predicted to be located in pi-body. Predicted to be active in P granule and cytosol. Implicated in spermatogenic failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac helicase activated by MEF2C protein; CHAMP; DJ402G11.8; DKFZp434B0717; FLJ33421; moloney leukemia virus 10-like protein 1; Mov10 like RISC complex RNA helicase 1; Mov10 RISC complex RNA helicase like 1; Mov10-like 1; MOV10-like protein 1; Mov10l1, Moloney leukemia virus 10-like 1, homolog; putative helicase Mov10l1; RNA helicase Mov10l1; SPGF73
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,090,006 - 50,161,687 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,090,006 - 50,161,690 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,528,435 - 50,600,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,870,621 - 48,942,243 (+)NCBINCBI36Build 36hg18NCBI36
Build 342248,830,950 - 48,902,572NCBI
Celera2234,403,662 - 34,475,028 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,426,626 - 33,497,902 (+)NCBIHuRef
CHM1_12250,487,160 - 50,558,708 (+)NCBICHM1_1
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA)
P granule  (IBA,ISS)
pi-body  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591208   PMID:11279525   PMID:11839499   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15461802   PMID:20379614   PMID:21873635   PMID:23251661   PMID:23942779   PMID:24817005  
PMID:24927181   PMID:26344197   PMID:30575818   PMID:32838362   PMID:33961781   PMID:34687317  


Genomics

Comparative Map Data
MOV10L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,090,006 - 50,161,687 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,090,006 - 50,161,690 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,528,435 - 50,600,116 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,870,621 - 48,942,243 (+)NCBINCBI36Build 36hg18NCBI36
Build 342248,830,950 - 48,902,572NCBI
Celera2234,403,662 - 34,475,028 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,426,626 - 33,497,902 (+)NCBIHuRef
CHM1_12250,487,160 - 50,558,708 (+)NCBICHM1_1
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBIT2T-CHM13v2.0
Mov10l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391588,867,094 - 88,939,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1588,867,112 - 88,939,355 (+)EnsemblGRCm39 Ensembl
GRCm381588,982,891 - 89,055,152 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1588,982,909 - 89,055,152 (+)EnsemblGRCm38mm10GRCm38
MGSCv371588,813,424 - 88,885,582 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361588,813,324 - 88,882,914 (+)NCBIMGSCv36mm8
Celera1591,109,412 - 91,182,451 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.49NCBI
Mov10l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87121,949,743 - 122,015,042 (+)NCBIGRCr8
mRatBN7.27120,070,171 - 120,135,406 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,070,135 - 120,134,765 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.07129,973,391 - 130,039,306 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7129,973,480 - 130,037,344 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07129,659,387 - 129,724,099 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,293,690 - 127,357,694 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,325,513 - 127,391,351 (+)NCBI
Celera7116,543,232 - 116,610,213 (+)NCBICelera
Cytogenetic Map7q34NCBI
Mov10l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,142,918 - 33,208,329 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,142,857 - 33,208,897 (+)NCBIChiLan1.0ChiLan1.0
MOV10L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22359,996,978 - 60,067,961 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12262,683,448 - 62,761,624 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,320,202 - 30,391,121 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,319,203 - 49,389,765 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,319,203 - 49,389,765 (+)Ensemblpanpan1.1panPan2
MOV10L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11017,067,273 - 17,139,910 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1017,067,273 - 17,240,197 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1017,044,831 - 17,117,420 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01017,793,917 - 17,866,527 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,793,922 - 17,865,739 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,517,937 - 17,590,515 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,840,962 - 17,913,508 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,973,234 - 18,045,829 (-)NCBIUU_Cfam_GSD_1.0
Mov10l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945632,833 - 693,671 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629633,418 - 693,598 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629631,368 - 693,598 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOV10L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.15509,868 - 567,429 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,732,807 - 110,790,452 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MOV10L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,586,652 - 32,653,563 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,587,008 - 32,653,886 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,700,960 - 92,770,793 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mov10l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752580,155 - 651,000 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624752580,580 - 651,209 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MOV10L1
74 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
NM_001164105.1(MOV10L1):c.3284G>A (p.Arg1095Lys) single nucleotide variant Malignant melanoma [RCV000063931] Chr22:50160707 [GRCh38]
Chr22:50599136 [GRCh37]
Chr22:48941263 [NCBI36]
Chr22:22q13.33		 not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1 copy number loss See cases [RCV000141600] Chr22:50055231..50202728 [GRCh38]
Chr22:50493660..50641157 [GRCh37]
Chr22:48835787..48983284 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48904534-50138137)x3 copy number gain See cases [RCV000143711] Chr22:48904534..50138137 [GRCh38]
Chr22:49300346..50576566 [GRCh37]
Chr22:47686350..48918693 [NCBI36]
Chr22:22q13.32-13.33		 uncertain significance
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_018995.3(MOV10L1):c.2731G>A (p.Val911Met) single nucleotide variant Inborn genetic diseases [RCV003267833] Chr22:50150738 [GRCh38]
Chr22:50589167 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_018995.3(MOV10L1):c.1673T>C (p.Ile558Thr) single nucleotide variant Inborn genetic diseases [RCV003240689] Chr22:50125495 [GRCh38]
Chr22:50563924 [GRCh37]
Chr22:22q13.33		 likely benign
NM_018995.3(MOV10L1):c.2792A>G (p.Tyr931Cys) single nucleotide variant Inborn genetic diseases [RCV003279770] Chr22:50150799 [GRCh38]
Chr22:50589228 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2140C>T (p.Pro714Ser) single nucleotide variant Inborn genetic diseases [RCV003270247] Chr22:50142150 [GRCh38]
Chr22:50580579 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2996T>C (p.Val999Ala) single nucleotide variant Inborn genetic diseases [RCV003304977] Chr22:50153148 [GRCh38]
Chr22:50591577 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50081517-50610628)x1 copy number loss not provided [RCV000684477] Chr22:50081517..50610628 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50555635-50710349)x3 copy number gain not provided [RCV000742096] Chr22:50555635..50710349 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_018995.3(MOV10L1):c.2297A>G (p.Tyr766Cys) single nucleotide variant Inborn genetic diseases [RCV003268090] Chr22:50143160 [GRCh38]
Chr22:50581589 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50506541-50535100)x1 copy number loss not provided [RCV000846586] Chr22:50506541..50535100 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50464963-50668571)x1 copy number loss not provided [RCV000847100] Chr22:50464963..50668571 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.991G>A (p.Val331Met) single nucleotide variant Inborn genetic diseases [RCV003248166] Chr22:50114487 [GRCh38]
Chr22:50552916 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1108A>G (p.Asn370Asp) single nucleotide variant Inborn genetic diseases [RCV003248831] Chr22:50114604 [GRCh38]
Chr22:50553033 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1309C>T (p.Leu437=) single nucleotide variant not provided [RCV001688943] Chr22:50117206 [GRCh38]
Chr22:50555635 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_018995.3(MOV10L1):c.544C>T (p.Arg182Cys) single nucleotide variant not provided [RCV001638807] Chr22:50108237 [GRCh38]
Chr22:50546666 [GRCh37]
Chr22:22q13.33		 benign
NM_018995.3(MOV10L1):c.1360A>C (p.Ile454Leu) single nucleotide variant not provided [RCV001715103] Chr22:50117257 [GRCh38]
Chr22:50555686 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_018995.3(MOV10L1):c.1293C>T (p.Leu431=) single nucleotide variant not provided [RCV001540044] Chr22:50117190 [GRCh38]
Chr22:50555619 [GRCh37]
Chr22:22q13.33		 benign
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs) deletion Non-obstructive azoospermia [RCV002283562]|Spermatogenic failure 73 [RCV002246548] Chr22:50158084..50158087 [GRCh38]
Chr22:50596513..50596516 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_018995.3(MOV10L1):c.743+5G>A single nucleotide variant Azoospermia [RCV001797570] Chr22:50108849 [GRCh38]
Chr22:50547278 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50500012)_(50682888_?)dup duplication not provided [RCV001952769] Chr22:50500012..50682888 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile) single nucleotide variant Non-obstructive azoospermia [RCV002283560]|Spermatogenic failure 73 [RCV002246546] Chr22:50144185 [GRCh38]
Chr22:50582614 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_018995.3(MOV10L1):c.2542G>A (p.Gly848Arg) single nucleotide variant Non-obstructive azoospermia [RCV002283561]|Spermatogenic failure 73 [RCV002246547] Chr22:50145725 [GRCh38]
Chr22:50584154 [GRCh37]
Chr22:22q13.33		 pathogenic|uncertain significance
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2831G>A (p.Arg944Gln) single nucleotide variant Inborn genetic diseases [RCV003304475] Chr22:50150838 [GRCh38]
Chr22:50589267 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_018995.3(MOV10L1):c.2853A>C (p.Glu951Asp) single nucleotide variant Inborn genetic diseases [RCV002968774] Chr22:50150860 [GRCh38]
Chr22:50589289 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1232C>A (p.Thr411Asn) single nucleotide variant Inborn genetic diseases [RCV002973655] Chr22:50115219 [GRCh38]
Chr22:50553648 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1499T>G (p.Ile500Ser) single nucleotide variant Inborn genetic diseases [RCV002772100] Chr22:50120546 [GRCh38]
Chr22:50558975 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2500G>A (p.Glu834Lys) single nucleotide variant Inborn genetic diseases [RCV002864568] Chr22:50144238 [GRCh38]
Chr22:50582667 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.233T>C (p.Ile78Thr) single nucleotide variant Inborn genetic diseases [RCV002907273] Chr22:50092136 [GRCh38]
Chr22:50530565 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1604C>T (p.Ser535Leu) single nucleotide variant Inborn genetic diseases [RCV002752928] Chr22:50125426 [GRCh38]
Chr22:50563855 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2384G>A (p.Arg795Gln) single nucleotide variant Inborn genetic diseases [RCV002946675] Chr22:50144122 [GRCh38]
Chr22:50582551 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.830C>T (p.Thr277Met) single nucleotide variant Inborn genetic diseases [RCV002778803] Chr22:50113734 [GRCh38]
Chr22:50552163 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2538A>C (p.Arg846Ser) single nucleotide variant Inborn genetic diseases [RCV002865412] Chr22:50145721 [GRCh38]
Chr22:50584150 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.19A>G (p.Lys7Glu) single nucleotide variant Inborn genetic diseases [RCV002840083] Chr22:50090107 [GRCh38]
Chr22:50528536 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.118G>A (p.Val40Ile) single nucleotide variant Inborn genetic diseases [RCV002997159] Chr22:50092021 [GRCh38]
Chr22:50530450 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.85G>C (p.Glu29Gln) single nucleotide variant Inborn genetic diseases [RCV002950431] Chr22:50090173 [GRCh38]
Chr22:50528602 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3500C>G (p.Thr1167Arg) single nucleotide variant Inborn genetic diseases [RCV002762128] Chr22:50161001 [GRCh38]
Chr22:50599430 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2666G>A (p.Gly889Glu) single nucleotide variant Inborn genetic diseases [RCV002844108] Chr22:50149653 [GRCh38]
Chr22:50588082 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3542A>G (p.Gln1181Arg) single nucleotide variant Inborn genetic diseases [RCV002660667] Chr22:50161043 [GRCh38]
Chr22:50599472 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2750T>C (p.Met917Thr) single nucleotide variant Inborn genetic diseases [RCV002799357] Chr22:50150757 [GRCh38]
Chr22:50589186 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.511G>A (p.Glu171Lys) single nucleotide variant Inborn genetic diseases [RCV002666214] Chr22:50108204 [GRCh38]
Chr22:50546633 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.223C>A (p.Gln75Lys) single nucleotide variant Inborn genetic diseases [RCV002830705] Chr22:50092126 [GRCh38]
Chr22:50530555 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3242G>A (p.Arg1081His) single nucleotide variant Inborn genetic diseases [RCV002787109] Chr22:50159703 [GRCh38]
Chr22:50598132 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3548T>G (p.Leu1183Arg) single nucleotide variant Inborn genetic diseases [RCV002827135] Chr22:50161049 [GRCh38]
Chr22:50599478 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1661T>C (p.Met554Thr) single nucleotide variant Inborn genetic diseases [RCV002641943] Chr22:50125483 [GRCh38]
Chr22:50563912 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3544T>C (p.Ser1182Pro) single nucleotide variant Inborn genetic diseases [RCV002892503] Chr22:50161045 [GRCh38]
Chr22:50599474 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2099A>T (p.Glu700Val) single nucleotide variant Inborn genetic diseases [RCV002712218] Chr22:50142109 [GRCh38]
Chr22:50580538 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2824A>G (p.Met942Val) single nucleotide variant Inborn genetic diseases [RCV002665595] Chr22:50150831 [GRCh38]
Chr22:50589260 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.653G>A (p.Arg218Gln) single nucleotide variant Inborn genetic diseases [RCV002745065] Chr22:50108754 [GRCh38]
Chr22:50547183 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1229A>G (p.Lys410Arg) single nucleotide variant Inborn genetic diseases [RCV002941791] Chr22:50115216 [GRCh38]
Chr22:50553645 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2782G>T (p.Ala928Ser) single nucleotide variant Inborn genetic diseases [RCV002703317] Chr22:50150789 [GRCh38]
Chr22:50589218 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1738C>G (p.Leu580Val) single nucleotide variant Inborn genetic diseases [RCV002769950] Chr22:50125560 [GRCh38]
Chr22:50563989 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1835T>C (p.Val612Ala) single nucleotide variant Inborn genetic diseases [RCV002748045] Chr22:50128432 [GRCh38]
Chr22:50566861 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.118G>C (p.Val40Leu) single nucleotide variant Inborn genetic diseases [RCV002719145] Chr22:50092021 [GRCh38]
Chr22:50530450 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1094G>A (p.Ser365Asn) single nucleotide variant Inborn genetic diseases [RCV002989180] Chr22:50114590 [GRCh38]
Chr22:50553019 [GRCh37]
Chr22:22q13.33		 likely benign
NM_018995.3(MOV10L1):c.2885C>T (p.Pro962Leu) single nucleotide variant Inborn genetic diseases [RCV002724295] Chr22:50150892 [GRCh38]
Chr22:50589321 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2572C>T (p.Arg858Trp) single nucleotide variant Inborn genetic diseases [RCV002725181] Chr22:50145755 [GRCh38]
Chr22:50584184 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1885A>G (p.Met629Val) single nucleotide variant Inborn genetic diseases [RCV002679868] Chr22:50128482 [GRCh38]
Chr22:50566911 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.313G>A (p.Asp105Asn) single nucleotide variant Inborn genetic diseases [RCV002652426] Chr22:50099473 [GRCh38]
Chr22:50537902 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2152C>A (p.Pro718Thr) single nucleotide variant Inborn genetic diseases [RCV002723253] Chr22:50142162 [GRCh38]
Chr22:50580591 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1409C>T (p.Ala470Val) single nucleotide variant Inborn genetic diseases [RCV003254952] Chr22:50117306 [GRCh38]
Chr22:50555735 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.224A>G (p.Gln75Arg) single nucleotide variant Inborn genetic diseases [RCV003280188] Chr22:50092127 [GRCh38]
Chr22:50530556 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.239T>C (p.Val80Ala) single nucleotide variant Inborn genetic diseases [RCV003194922] Chr22:50092142 [GRCh38]
Chr22:50530571 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1744G>A (p.Ala582Thr) single nucleotide variant Inborn genetic diseases [RCV003180343] Chr22:50125566 [GRCh38]
Chr22:50563995 [GRCh37]
Chr22:22q13.33		 likely benign
NM_018995.3(MOV10L1):c.1721C>T (p.Ala574Val) single nucleotide variant Inborn genetic diseases [RCV003196488] Chr22:50125543 [GRCh38]
Chr22:50563972 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2930C>T (p.Ala977Val) single nucleotide variant Inborn genetic diseases [RCV003199351] Chr22:50153082 [GRCh38]
Chr22:50591511 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1028C>T (p.Ser343Leu) single nucleotide variant Inborn genetic diseases [RCV003199836] Chr22:50114524 [GRCh38]
Chr22:50552953 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.779A>G (p.Tyr260Cys) single nucleotide variant Inborn genetic diseases [RCV003189819] Chr22:50113683 [GRCh38]
Chr22:50552112 [GRCh37]
Chr22:22q13.33		 likely benign
NM_018995.3(MOV10L1):c.3398A>C (p.Asn1133Thr) single nucleotide variant Inborn genetic diseases [RCV003263030] Chr22:50160761 [GRCh38]
Chr22:50599190 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_018995.3(MOV10L1):c.422C>G (p.Ser141Cys) single nucleotide variant Inborn genetic diseases [RCV003379225] Chr22:50099582 [GRCh38]
Chr22:50538011 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.2567G>A (p.Arg856His) single nucleotide variant Inborn genetic diseases [RCV003358847] Chr22:50145750 [GRCh38]
Chr22:50584179 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.3065G>A (p.Arg1022Gln) single nucleotide variant Inborn genetic diseases [RCV003372367] Chr22:50153217 [GRCh38]
Chr22:50591646 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_018995.3(MOV10L1):c.1951A>T (p.Ile651Phe) single nucleotide variant Inborn genetic diseases [RCV003386537] Chr22:50134047 [GRCh38]
Chr22:50572476 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3 copy number gain not provided [RCV003485248] Chr22:49839613..50740220 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_018995.3(MOV10L1):c.1410G>A (p.Ala470=) single nucleotide variant not provided [RCV003433331] Chr22:50117307 [GRCh38]
Chr22:50555736 [GRCh37]
Chr22:22q13.33		 likely benign
NM_018995.3(MOV10L1):c.391G>A (p.Ala131Thr) single nucleotide variant not provided [RCV003437679] Chr22:50099551 [GRCh38]
Chr22:50537980 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 copy number loss not specified [RCV003986170] Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4063
Count of miRNA genes:1090
Interacting mature miRNAs:1345
Transcripts:ENST00000262794, ENST00000354853, ENST00000395843, ENST00000395852, ENST00000395854, ENST00000395858, ENST00000419054, ENST00000434497, ENST00000475190, ENST00000540615, ENST00000545383
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
RH94076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,599,927 - 50,600,069UniSTSGRCh37
Build 362248,942,054 - 48,942,196RGDNCBI36
Celera2234,474,839 - 34,474,981RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,497,713 - 33,497,855UniSTS
GeneMap99-GB4 RH Map22175.08UniSTS
RH94173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,597,494 - 50,597,623UniSTSGRCh37
Build 362248,939,621 - 48,939,750RGDNCBI36
Celera2234,472,406 - 34,472,535RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,495,280 - 33,495,409UniSTS
GeneMap99-GB4 RH Map22175.08UniSTS
stdJ406J13S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,586,650 - 50,586,887UniSTSGRCh37
Build 362248,928,777 - 48,929,014RGDNCBI36
Celera2234,461,562 - 34,461,799RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,484,443 - 33,484,680UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
G65766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.33UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1 394 4
Low 735 862 524 96 146 52 790 105 2162 49 751 599 47 334 602 1
Below cutoff 1640 2000 1165 501 1277 387 3261 1888 1560 308 270 947 125 870 2013 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001164104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF285604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP382225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262794   ⟹   ENSP00000262794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,006 - 50,161,687 (+)Ensembl
RefSeq Acc Id: ENST00000354853   ⟹   ENSP00000346917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,149,389 - 50,159,257 (+)Ensembl
RefSeq Acc Id: ENST00000395852   ⟹   ENSP00000379193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,146,965 - 50,161,677 (+)Ensembl
RefSeq Acc Id: ENST00000395854   ⟹   ENSP00000379195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,054 - 50,108,375 (+)Ensembl
RefSeq Acc Id: ENST00000395858   ⟹   ENSP00000379199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,065 - 50,161,690 (+)Ensembl
RefSeq Acc Id: ENST00000419054   ⟹   ENSP00000410957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,045 - 50,108,375 (+)Ensembl
RefSeq Acc Id: ENST00000434497   ⟹   ENSP00000399776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,114,458 - 50,142,186 (+)Ensembl
RefSeq Acc Id: ENST00000475190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,256 - 50,108,184 (+)Ensembl
RefSeq Acc Id: ENST00000540615   ⟹   ENSP00000438542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,090,256 - 50,161,686 (+)Ensembl
RefSeq Acc Id: ENST00000545383   ⟹   ENSP00000438978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,089,879 - 50,161,618 (+)Ensembl
RefSeq Acc Id: NM_001164104   ⟹   NP_001157576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
GRCh372250,528,435 - 50,600,119 (+)NCBI
Celera2234,403,662 - 34,475,028 (+)RGD
HuRef2233,426,626 - 33,497,902 (+)RGD
CHM1_12250,487,160 - 50,558,708 (+)NCBI
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164105   ⟹   NP_001157577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
GRCh372250,528,435 - 50,600,119 (+)NCBI
Celera2234,403,662 - 34,475,028 (+)RGD
HuRef2233,426,626 - 33,497,902 (+)RGD
CHM1_12250,487,410 - 50,558,708 (+)NCBI
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164106   ⟹   NP_001157578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,147,055 - 50,161,687 (+)NCBI
GRCh372250,528,435 - 50,600,119 (+)NCBI
Celera2234,403,662 - 34,475,028 (+)RGD
HuRef2233,426,626 - 33,497,902 (+)RGD
CHM1_12250,544,221 - 50,558,708 (+)NCBI
T2T-CHM13v2.02250,654,007 - 50,668,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018995   ⟹   NP_061868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
GRCh372250,528,435 - 50,600,119 (+)NCBI
Build 362248,870,621 - 48,942,243 (+)NCBI Archive
Celera2234,403,662 - 34,475,028 (+)RGD
HuRef2233,426,626 - 33,497,902 (+)RGD
CHM1_12250,487,160 - 50,558,708 (+)NCBI
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261923   ⟹   XP_005261980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
GRCh372250,528,435 - 50,600,119 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530696   ⟹   XP_011528998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530697   ⟹   XP_011528999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530698   ⟹   XP_011529000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530699   ⟹   XP_011529001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,247 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530700   ⟹   XP_011529002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,938 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530701   ⟹   XP_011529003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,158,688 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530704   ⟹   XP_011529006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,143,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028833   ⟹   XP_016884322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028834   ⟹   XP_016884323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,136,651 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028835   ⟹   XP_016884324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,115,180 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028836   ⟹   XP_016884325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,122,119 - 50,161,687 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028837   ⟹   XP_016884326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,127,816 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441413   ⟹   XP_047297369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,092,100 - 50,161,687 (+)NCBI
RefSeq Acc Id: XM_047441414   ⟹   XP_047297370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,153,153 (+)NCBI
RefSeq Acc Id: XM_047441415   ⟹   XP_047297371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,117,262 - 50,161,687 (+)NCBI
RefSeq Acc Id: XM_054325718   ⟹   XP_054181693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325719   ⟹   XP_054181694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325720   ⟹   XP_054181695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325721   ⟹   XP_054181696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325722   ⟹   XP_054181697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,597,146 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325723   ⟹   XP_054181698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,597,839 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325724   ⟹   XP_054181699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325725   ⟹   XP_054181700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,665,448 (+)NCBI
RefSeq Acc Id: XM_054325726   ⟹   XP_054181701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,599,001 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325727   ⟹   XP_054181702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,659,913 (+)NCBI
RefSeq Acc Id: XM_054325728   ⟹   XP_054181703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,643,576 (+)NCBI
RefSeq Acc Id: XM_054325729   ⟹   XP_054181704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,624,190 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325730   ⟹   XP_054181705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,622,108 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325731   ⟹   XP_054181706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,629,047 - 50,668,447 (+)NCBI
RefSeq Acc Id: XM_054325732   ⟹   XP_054181707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,650,079 (+)NCBI
RefSeq Acc Id: XM_054325733   ⟹   XP_054181708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,596,905 - 50,634,744 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001157576 (Get FASTA)   NCBI Sequence Viewer  
  NP_001157577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001157578 (Get FASTA)   NCBI Sequence Viewer  
  NP_061868 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261980 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528998 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528999 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529000 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529001 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529002 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529003 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529006 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884322 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884323 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884324 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884325 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884326 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297369 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297370 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297371 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181693 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181694 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181695 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181696 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181697 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181698 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181699 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181700 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181701 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181702 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181703 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181704 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181705 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181708 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29552 (Get FASTA)   NCBI Sequence Viewer  
  AAH42828 (Get FASTA)   NCBI Sequence Viewer  
  AAI40945 (Get FASTA)   NCBI Sequence Viewer  
  AAI50138 (Get FASTA)   NCBI Sequence Viewer  
  AAI52540 (Get FASTA)   NCBI Sequence Viewer  
  AAK31983 (Get FASTA)   NCBI Sequence Viewer  
  BAA90895 (Get FASTA)   NCBI Sequence Viewer  
  BAC03511 (Get FASTA)   NCBI Sequence Viewer  
  BAG52591 (Get FASTA)   NCBI Sequence Viewer  
  BAH13697 (Get FASTA)   NCBI Sequence Viewer  
  BAH13879 (Get FASTA)   NCBI Sequence Viewer  
  CAB61391 (Get FASTA)   NCBI Sequence Viewer  
  CAG30352 (Get FASTA)   NCBI Sequence Viewer  
  EAW73492 (Get FASTA)   NCBI Sequence Viewer  
  EAW73493 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262794
  ENSP00000262794.5
  ENSP00000346917.2
  ENSP00000379193
  ENSP00000379193.1
  ENSP00000379195.2
  ENSP00000379199
  ENSP00000379199.3
  ENSP00000399776.1
  ENSP00000410957.1
  ENSP00000438542
  ENSP00000438542.1
GenBank Protein Q9BXT6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_061868   ⟸   NM_018995
- Peptide Label: isoform 1
- UniProtKB: Q9UFB3 (UniProtKB/Swiss-Prot),   Q9NXW3 (UniProtKB/Swiss-Prot),   Q8NBD4 (UniProtKB/Swiss-Prot),   Q5TGD5 (UniProtKB/Swiss-Prot),   F5H403 (UniProtKB/Swiss-Prot),   B7Z7R1 (UniProtKB/Swiss-Prot),   B7WPP1 (UniProtKB/Swiss-Prot),   A8MXC6 (UniProtKB/Swiss-Prot),   A7E211 (UniProtKB/Swiss-Prot),   Q9UGX9 (UniProtKB/Swiss-Prot),   Q9BXT6 (UniProtKB/Swiss-Prot),   B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157576   ⟸   NM_001164104
- Peptide Label: isoform 2
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157577   ⟸   NM_001164105
- Peptide Label: isoform 3
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001157578   ⟸   NM_001164106
- Peptide Label: isoform 4
- UniProtKB: Q9BXT6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261980   ⟸   XM_005261923
- Peptide Label: isoform X6
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528998   ⟸   XM_011530696
- Peptide Label: isoform X1
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529000   ⟸   XM_011530698
- Peptide Label: isoform X4
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529003   ⟸   XM_011530701
- Peptide Label: isoform X7
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529006   ⟸   XM_011530704
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011528999   ⟸   XM_011530697
- Peptide Label: isoform X2
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529001   ⟸   XM_011530699
- Peptide Label: isoform X5
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529002   ⟸   XM_011530700
- Peptide Label: isoform X5
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884322   ⟸   XM_017028833
- Peptide Label: isoform X3
- UniProtKB: B9EIS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884323   ⟸   XM_017028834
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016884326   ⟸   XM_017028837
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016884324   ⟸   XM_017028835
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884325   ⟸   XM_017028836
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: ENSP00000438978   ⟸   ENST00000545383
RefSeq Acc Id: ENSP00000410957   ⟸   ENST00000419054
RefSeq Acc Id: ENSP00000346917   ⟸   ENST00000354853
RefSeq Acc Id: ENSP00000262794   ⟸   ENST00000262794
RefSeq Acc Id: ENSP00000399776   ⟸   ENST00000434497
RefSeq Acc Id: ENSP00000379199   ⟸   ENST00000395858
RefSeq Acc Id: ENSP00000379195   ⟸   ENST00000395854
RefSeq Acc Id: ENSP00000379193   ⟸   ENST00000395852
RefSeq Acc Id: ENSP00000438542   ⟸   ENST00000540615
RefSeq Acc Id: XP_047297370   ⟸   XM_047441414
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047297369   ⟸   XM_047441413
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047297371   ⟸   XM_047441415
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054181694   ⟸   XM_054325719
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181699   ⟸   XM_054325724
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054181693   ⟸   XM_054325718
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181695   ⟸   XM_054325720
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181696   ⟸   XM_054325721
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181700   ⟸   XM_054325725
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181702   ⟸   XM_054325727
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181707   ⟸   XM_054325732
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054181703   ⟸   XM_054325728
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054181708   ⟸   XM_054325733
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054181697   ⟸   XM_054325722
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181698   ⟸   XM_054325723
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181701   ⟸   XM_054325726
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181705   ⟸   XM_054325730
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054181704   ⟸   XM_054325729
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054181706   ⟸   XM_054325731
- Peptide Label: isoform X11
Protein Domains
DNA2/NAM7 helicase helicase   DNA2/NAM7 helicase-like C-terminal   Helicase MOV-10-like beta-barrel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXT6-F1-model_v2 AlphaFold Q9BXT6 1-1211 view protein structure

Promoters
RGD ID:6800155
Promoter ID:HG_KWN:43341
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000354853
Position:
Human AssemblyChrPosition (strand)Source
Build 362248,929,694 - 48,930,194 (+)MPROMDB
RGD ID:13604500
Promoter ID:EPDNEW_H28434
Type:initiation region
Name:MOV10L1_3
Description:Mov10 RISC complex RNA helicase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28435  EPDNEW_H28436  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,089,785 - 50,089,845EPDNEW
RGD ID:13604502
Promoter ID:EPDNEW_H28435
Type:initiation region
Name:MOV10L1_2
Description:Mov10 RISC complex RNA helicase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28434  EPDNEW_H28436  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,090,006 - 50,090,066EPDNEW
RGD ID:13604504
Promoter ID:EPDNEW_H28436
Type:initiation region
Name:MOV10L1_1
Description:Mov10 RISC complex RNA helicase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28434  EPDNEW_H28435  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,114,499 - 50,114,559EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7201 AgrOrtholog
COSMIC MOV10L1 COSMIC
Ensembl Genes ENSG00000073146 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262794 ENTREZGENE
  ENST00000262794.10 UniProtKB/Swiss-Prot
  ENST00000354853.2 UniProtKB/Swiss-Prot
  ENST00000395852 ENTREZGENE
  ENST00000395852.5 UniProtKB/Swiss-Prot
  ENST00000395854.6 UniProtKB/TrEMBL
  ENST00000395858 ENTREZGENE
  ENST00000395858.7 UniProtKB/Swiss-Prot
  ENST00000419054.5 UniProtKB/TrEMBL
  ENST00000434497.1 UniProtKB/TrEMBL
  ENST00000540615 ENTREZGENE
  ENST00000540615.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073146 GTEx
HGNC ID HGNC:7201 ENTREZGENE
Human Proteome Map MOV10L1 Human Proteome Map
InterPro DNA2/NAM7-like_AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA2/NAM7_AAA_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOV-10-like_beta-barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SF1_C_Upf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54456 UniProtKB/Swiss-Prot
NCBI Gene 54456 ENTREZGENE
OMIM 605794 OMIM
PANTHER CANCER/TESTIS ANTIGEN 55 UniProtKB/Swiss-Prot
  CANCER/TESTIS ANTIGEN 55 UniProtKB/Swiss-Prot
  CANCER/TESTIS ANTIGEN 55 UniProtKB/TrEMBL
  CANCER/TESTIS ANTIGEN 55 UniProtKB/TrEMBL
Pfam AAA_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOV-10_beta-barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30909 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7E211 ENTREZGENE
  A8MXC6 ENTREZGENE
  B7WPP1 ENTREZGENE
  B7Z7R1 ENTREZGENE
  B9EIS3 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2H1_HUMAN UniProtKB/TrEMBL
  F5H403 ENTREZGENE
  H7C1D5_HUMAN UniProtKB/TrEMBL
  M10L1_HUMAN UniProtKB/Swiss-Prot
  Q5TGD5 ENTREZGENE
  Q8IVP3_HUMAN UniProtKB/TrEMBL
  Q8NBD4 ENTREZGENE
  Q9BXT6 ENTREZGENE
  Q9NXW3 ENTREZGENE
  Q9UFB3 ENTREZGENE
  Q9UGX9 ENTREZGENE
UniProt Secondary A7E211 UniProtKB/Swiss-Prot
  A8MXC6 UniProtKB/Swiss-Prot
  B7WPP1 UniProtKB/Swiss-Prot
  B7Z7R1 UniProtKB/Swiss-Prot
  F5H403 UniProtKB/Swiss-Prot
  Q5TGD5 UniProtKB/Swiss-Prot
  Q8NBD4 UniProtKB/Swiss-Prot
  Q9NXW3 UniProtKB/Swiss-Prot
  Q9UFB3 UniProtKB/Swiss-Prot
  Q9UGX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-09-11 MOV10L1  Mov10 like RNA helicase 1  MOV10L1  Mov10 like RISC complex RNA helicase 1  Symbol and/or name change 19259463 PROVISIONAL
2018-07-10 MOV10L1  Mov10 like RISC complex RNA helicase 1    Mov10 RISC complex RNA helicase like 1  Symbol and/or name change 5135510 APPROVED
2014-07-08 MOV10L1  Mov10 RISC complex RNA helicase like 1    Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)  Symbol and/or name change 5135510 APPROVED