METTL4 (methyltransferase 4, N6-adenosine) - Rat Genome Database

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Gene: METTL4 (methyltransferase 4, N6-adenosine) Homo sapiens
Analyze
Symbol: METTL4
Name: methyltransferase 4, N6-adenosine
RGD ID: 1346719
HGNC Page HGNC:24726
Description: Enables RNA methyltransferase activity and site-specific DNA-methyltransferase (adenine-specific) activity. Involved in regulation of nucleobase-containing compound metabolic process and snRNA (adenine-N6)-methylation. Located in cytosol; mitochondrial matrix; and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ23017; HsT661; methyltransferase like 4; methyltransferase-like protein 4; MGC117235; N(6)-adenine-specific DNA methyltransferase METTL4; N(6)-adenine-specific methyltransferase METTL4; snRNA (2'-O-methyladenosine-N(6)-)-methyltransferase METTL4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38182,537,530 - 2,571,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl182,537,525 - 2,571,509 (-)EnsemblGRCh38hg38GRCh38
GRCh37182,537,529 - 2,571,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36182,527,524 - 2,561,489 (-)NCBINCBI36Build 36hg18NCBI36
Build 34182,527,529 - 2,561,470NCBI
Celera182,412,830 - 2,446,793 (-)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef182,499,255 - 2,532,978 (-)NCBIHuRef
CHM1_1182,536,901 - 2,570,862 (-)NCBICHM1_1
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. 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:8889548   PMID:14702039   PMID:15489334   PMID:16341674   PMID:21873635   PMID:23834954   PMID:25130324   PMID:27373337   PMID:30982744   PMID:31913360   PMID:32183942   PMID:32813009  
PMID:35162982  


Genomics

Comparative Map Data
METTL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38182,537,530 - 2,571,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl182,537,525 - 2,571,509 (-)EnsemblGRCh38hg38GRCh38
GRCh37182,537,529 - 2,571,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36182,527,524 - 2,561,489 (-)NCBINCBI36Build 36hg18NCBI36
Build 34182,527,529 - 2,561,470NCBI
Celera182,412,830 - 2,446,793 (-)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef182,499,255 - 2,532,978 (-)NCBIHuRef
CHM1_1182,536,901 - 2,570,862 (-)NCBICHM1_1
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBIT2T-CHM13v2.0
Mettl4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391795,030,018 - 95,057,579 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1795,030,018 - 95,057,447 (-)EnsemblGRCm39 Ensembl
GRCm381794,722,590 - 94,750,214 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1794,722,590 - 94,750,019 (-)EnsemblGRCm38mm10GRCm38
MGSCv371795,126,420 - 95,149,232 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361795,031,189 - 95,054,001 (-)NCBIMGSCv36mm8
Celera1799,126,838 - 99,149,657 (-)NCBICelera
Cytogenetic Map17E5NCBI
cM Map1761.17NCBI
Mettl4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.29111,440,976 - 111,523,871 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9111,441,027 - 111,464,749 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9119,844,679 - 119,866,565 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09124,973,930 - 124,995,816 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09123,310,491 - 123,332,377 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09119,871,519 - 119,953,248 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9119,873,170 - 119,897,268 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09119,324,922 - 119,373,475 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49110,736,288 - 110,766,258 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19110,945,767 - 110,975,115 (+)NCBI
Celera9108,569,553 - 108,589,384 (+)NCBICelera
Cytogenetic Map9q38NCBI
Mettl4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554027,732,627 - 7,763,038 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554027,733,220 - 7,762,756 (+)NCBIChiLan1.0ChiLan1.0
METTL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11821,567,026 - 21,600,906 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01811,711,502 - 11,745,222 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11814,018,279 - 14,051,974 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1814,018,279 - 14,051,974 (+)Ensemblpanpan1.1panPan2
METTL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1769,229,717 - 69,268,223 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl769,191,223 - 69,267,683 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha768,665,874 - 68,723,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0769,272,450 - 69,330,069 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl769,291,648 - 69,329,591 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1768,955,089 - 69,012,718 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0768,975,650 - 69,032,839 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0769,272,402 - 69,330,056 (-)NCBIUU_Cfam_GSD_1.0
Mettl4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494465,601,744 - 65,630,845 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366721,910,851 - 1,941,520 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366721,911,109 - 1,940,897 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
METTL4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6104,055,814 - 104,078,381 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16104,055,813 - 104,384,416 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
METTL4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11861,767,806 - 61,834,994 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1861,799,324 - 61,834,973 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605036,653,215 - 36,694,906 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mettl4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477012,905,100 - 12,938,189 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477012,905,138 - 12,937,859 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in METTL4
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
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 18p11.32-11.31(chr18:180230-4199943)x3 copy number gain See cases [RCV000052533] Chr18:180230..4199943 [GRCh38]
Chr18:180230..4199943 [GRCh37]
Chr18:170230..4189943 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21
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 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 copy number loss See cases [RCV000053455] Chr18:53344..7029134 [GRCh38]
Chr18:53344..7029133 [GRCh37]
Chr18:43344..7019133 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 copy number loss See cases [RCV000053456] Chr18:112259..9135777 [GRCh38]
Chr18:112259..9135775 [GRCh37]
Chr18:102259..9125775 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1 copy number loss See cases [RCV000053460] Chr18:131700..3279166 [GRCh38]
Chr18:131700..3279164 [GRCh37]
Chr18:121700..3269164 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148763-3345033)x1 copy number loss See cases [RCV000053783] Chr18:148763..3345033 [GRCh38]
Chr18:148763..3345031 [GRCh37]
Chr18:138763..3335031 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|See cases [RCV000053785] Chr18:148963..6731495 [GRCh38]
Chr18:148963..6731494 [GRCh37]
Chr18:138963..6721494 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|See cases [RCV000053786] Chr18:148963..8572827 [GRCh38]
Chr18:148963..8572825 [GRCh37]
Chr18:138963..8562825 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1 copy number loss See cases [RCV000053788] Chr18:2547398..6694867 [GRCh38]
Chr18:2547397..6694866 [GRCh37]
Chr18:2537397..6684866 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1 copy number loss See cases [RCV000135846] Chr18:148963..6086668 [GRCh38]
Chr18:148963..6086667 [GRCh37]
Chr18:138963..6076667 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3 copy number gain See cases [RCV000135894] Chr18:131500..4421014 [GRCh38]
Chr18:131500..4421014 [GRCh37]
Chr18:121500..4411014 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32(chr18:148963-2563898)x1 copy number loss See cases [RCV000136645] Chr18:148963..2563898 [GRCh38]
Chr18:148963..2563897 [GRCh37]
Chr18:138963..2553897 [NCBI36]
Chr18:18p11.32
uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1 copy number loss See cases [RCV000137727] Chr18:118760..4342182 [GRCh38]
Chr18:118760..4342182 [GRCh37]
Chr18:108760..4332182 [NCBI36]
Chr18:18p11.32-11.31
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1 copy number loss See cases [RCV000139424] Chr18:118760..6275718 [GRCh38]
Chr18:118760..6275717 [GRCh37]
Chr18:108760..6265717 [NCBI36]
Chr18:18p11.32-11.31
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 18p11.32-11.22(chr18:118760-8999132)x1 copy number loss See cases [RCV000139022] Chr18:118760..8999132 [GRCh38]
Chr18:118760..8999130 [GRCh37]
Chr18:108760..8989130 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32(chr18:2549225-2700108)x3 copy number gain See cases [RCV000140205] Chr18:2549225..2700108 [GRCh38]
Chr18:2549224..2700106 [GRCh37]
Chr18:2539224..2690106 [NCBI36]
Chr18:18p11.32
likely benign
GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1 copy number loss See cases [RCV000139503] Chr18:149089..5276567 [GRCh38]
Chr18:149089..5276566 [GRCh37]
Chr18:139089..5266566 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 copy number loss See cases [RCV000141428] Chr18:85432..7094700 [GRCh38]
Chr18:85432..7094699 [GRCh37]
Chr18:75432..7084699 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1 copy number loss See cases [RCV000140922] Chr18:136226..2994136 [GRCh38]
Chr18:136226..2994134 [GRCh37]
Chr18:126226..2984134 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 copy number loss See cases [RCV000140659] Chr18:118760..4470508 [GRCh38]
Chr18:118760..4470508 [GRCh37]
Chr18:108760..4460508 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21
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 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1 copy number loss See cases [RCV000142175] Chr18:136226..4002983 [GRCh38]
Chr18:136226..4002983 [GRCh37]
Chr18:126226..3992983 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3 copy number gain See cases [RCV000143058] Chr18:149089..5458472 [GRCh38]
Chr18:149089..5458471 [GRCh37]
Chr18:139089..5448471 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21
uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1 copy number loss See cases [RCV000143661] Chr18:136226..4802275 [GRCh38]
Chr18:136226..4802274 [GRCh37]
Chr18:126226..4792274 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
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 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2737002)x1 copy number loss See cases [RCV000511331] Chr18:136226..2737002 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3 copy number gain See cases [RCV000240439] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3297143)x1 copy number loss See cases [RCV000449083] Chr18:136226..3297143 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3547887)x3 copy number gain See cases [RCV000446088] Chr18:136226..3547887 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22
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 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-4464955)x1 copy number loss See cases [RCV000448448] Chr18:136226..4464955 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2
pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-5323941)x1 copy number loss See cases [RCV000510776] Chr18:136226..5323941 [GRCh37]
Chr18:18p11.32-11.31
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 18p11.32-11.31(chr18:1345040-3479168) copy number loss Alopecia areata [RCV000626493] Chr18:1345040..3479168 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
Single allele duplication not provided [RCV000677916] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1 copy number loss not provided [RCV000684041] Chr18:136226..4925310 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32(chr18:544906-2702746)x3 copy number gain not provided [RCV000684030] Chr18:544906..2702746 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1 copy number loss not provided [RCV000684044] Chr18:136226..8057394 [GRCh37]
Chr18:18p11.32-11.23
pathogenic
NM_022840.5(METTL4):c.1198G>A (p.Val400Met) single nucleotide variant Inborn genetic diseases [RCV003269057] Chr18:2544270 [GRCh38]
Chr18:2544269 [GRCh37]
Chr18:18p11.32
uncertain significance
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 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1 copy number loss not provided [RCV001006932] Chr18:136226..5407839 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32(chr18:2481916-2639451)x1 copy number loss not provided [RCV000846520] Chr18:2481916..2639451 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1 copy number loss not provided [RCV001006933] Chr18:544117..5679224 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1 copy number loss not provided [RCV001006930] Chr18:136226..3502493 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_022840.5(METTL4):c.164C>G (p.Ser55Cys) single nucleotide variant Inborn genetic diseases [RCV003269872] Chr18:2567053 [GRCh38]
Chr18:2567052 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.707G>T (p.Arg236Leu) single nucleotide variant Inborn genetic diseases [RCV003272306] Chr18:2554791 [GRCh38]
Chr18:2554790 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1 copy number loss not provided [RCV001537912] Chr18:64996..6838315 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32(chr18:1239210-2851874)x3 copy number gain not provided [RCV001258707] Chr18:1239210..2851874 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1 copy number loss not provided [RCV001258861] Chr18:136226..3415478 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2626840)x1 copy number loss not provided [RCV001258705] Chr18:136226..2626840 [GRCh37]
Chr18:18p11.32
pathogenic|uncertain significance
GRCh37/hg19 18p11.32(chr18:2275728-2710888)x3 copy number gain not provided [RCV001258711] Chr18:2275728..2710888 [GRCh37]
Chr18:18p11.32
uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:983212-3261236)x1 copy number loss not provided [RCV001834359] Chr18:983212..3261236 [GRCh37]
Chr18:18p11.32-11.31
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 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3 copy number loss not provided [RCV001795839] Chr18:64647..4472031 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499) copy number loss not specified [RCV002052609] Chr18:136226..6103499 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1
pathogenic
GRCh37/hg19 18p11.32(chr18:136227-2694169)x1 copy number loss not provided [RCV001833048] Chr18:136227..2694169 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32(chr18:2255007-2774827)x3 copy number gain not provided [RCV001832981] Chr18:2255007..2774827 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1 copy number loss not provided [RCV002292972] Chr18:1..8638260 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132) copy number loss Deletion of short arm of chromosome 18 [RCV002280711] Chr18:136226..7131132 [GRCh37]
Chr18:18p11.32-11.23
pathogenic
GRCh37/hg19 18p11.32(chr18:136227-2626840)x1 copy number loss not provided [RCV002473718] Chr18:136227..2626840 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:2485817-4086341)x3 copy number gain not provided [RCV002472464] Chr18:2485817..4086341 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
GRCh37/hg19 18p11.32(chr18:2280228-2555929)x3 copy number gain not provided [RCV002474706] Chr18:2280228..2555929 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1 copy number loss not provided [RCV002472636] Chr18:136227..7218594 [GRCh37]
Chr18:18p11.32-11.23
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1 copy number loss not provided [RCV002474546] Chr18:2255007..4488934 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_022840.5(METTL4):c.103C>T (p.Arg35Cys) single nucleotide variant Inborn genetic diseases [RCV002739017] Chr18:2567114 [GRCh38]
Chr18:2567113 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.950T>C (p.Leu317Ser) single nucleotide variant Inborn genetic diseases [RCV002925354] Chr18:2547479 [GRCh38]
Chr18:2547478 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.773C>T (p.Pro258Leu) single nucleotide variant Inborn genetic diseases [RCV002798091] Chr18:2554725 [GRCh38]
Chr18:2554724 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.973G>C (p.Val325Leu) single nucleotide variant Inborn genetic diseases [RCV002910864] Chr18:2547456 [GRCh38]
Chr18:2547455 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.167C>A (p.Ser56Tyr) single nucleotide variant Inborn genetic diseases [RCV002888268] Chr18:2567050 [GRCh38]
Chr18:2567049 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.1153G>T (p.Val385Phe) single nucleotide variant Inborn genetic diseases [RCV002692311] Chr18:2544681 [GRCh38]
Chr18:2544680 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.725C>G (p.Ser242Cys) single nucleotide variant Inborn genetic diseases [RCV002742541] Chr18:2554773 [GRCh38]
Chr18:2554772 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.739G>T (p.Val247Leu) single nucleotide variant Inborn genetic diseases [RCV002742542] Chr18:2554759 [GRCh38]
Chr18:2554758 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.1271C>T (p.Ala424Val) single nucleotide variant Inborn genetic diseases [RCV002931393] Chr18:2544197 [GRCh38]
Chr18:2544196 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.829+1G>A single nucleotide variant not provided [RCV003083638] Chr18:2554668 [GRCh38]
Chr18:2554667 [GRCh37]
Chr18:18p11.32
likely pathogenic
NM_022840.5(METTL4):c.1234G>A (p.Val412Met) single nucleotide variant Inborn genetic diseases [RCV003008846] Chr18:2544234 [GRCh38]
Chr18:2544233 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.827A>G (p.Asn276Ser) single nucleotide variant Inborn genetic diseases [RCV002939555] Chr18:2554671 [GRCh38]
Chr18:2554670 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1
pathogenic
NM_022840.5(METTL4):c.548A>G (p.Asp183Gly) single nucleotide variant Inborn genetic diseases [RCV003178998] Chr18:2554950 [GRCh38]
Chr18:2554949 [GRCh37]
Chr18:18p11.32
uncertain significance
NM_022840.5(METTL4):c.962A>G (p.Asn321Ser) single nucleotide variant Inborn genetic diseases [RCV003190221] Chr18:2547467 [GRCh38]
Chr18:2547466 [GRCh37]
Chr18:18p11.32
uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1 copy number loss not provided [RCV003483329] Chr18:136227..8513569 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1527
Count of miRNA genes:573
Interacting mature miRNAs:630
Transcripts:ENST00000319888, ENST00000573134, ENST00000574538, ENST00000574676, ENST00000576251, ENST00000577166, ENST00000609769
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH103559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,538,278 - 2,538,444UniSTSGRCh37
Build 36182,528,278 - 2,528,444RGDNCBI36
Celera182,413,584 - 2,413,750RGD
Cytogenetic Map18p11.32UniSTS
HuRef182,500,009 - 2,500,175UniSTS
GeneMap99-GB4 RH Map1825.24UniSTS
RH122118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,544,084 - 2,544,358UniSTSGRCh37
Build 36182,534,084 - 2,534,358RGDNCBI36
Celera182,419,390 - 2,419,664RGD
Cytogenetic Map18p11.32UniSTS
HuRef182,505,819 - 2,506,093UniSTS
TNG Radiation Hybrid Map18891.0UniSTS
AB046105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,538,956 - 2,539,127UniSTSGRCh37
Build 36182,528,956 - 2,529,127RGDNCBI36
Celera182,414,262 - 2,414,433RGD
HuRef182,500,687 - 2,500,858UniSTS
RH48981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,565,664 - 2,565,793UniSTSGRCh37
Build 36182,555,664 - 2,555,793RGDNCBI36
Celera182,440,971 - 2,441,100RGD
Cytogenetic Map18p11.32UniSTS
HuRef182,527,159 - 2,527,288UniSTS
GeneMap99-GB4 RH Map1822.87UniSTS


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 121 31 215 17 635 18 294 53 203 55 438 353 7 122 100 1 2
Low 2318 2925 1511 607 1288 447 4061 2134 3530 363 1022 1260 167 1 1082 2686 5
Below cutoff 35 28 2 10 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI489580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI771801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM828675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY026088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000319888   ⟹   ENSP00000320349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,537,525 - 2,571,509 (-)Ensembl
RefSeq Acc Id: ENST00000573134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,537,530 - 2,567,613 (-)Ensembl
RefSeq Acc Id: ENST00000574538   ⟹   ENSP00000458290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,537,530 - 2,571,505 (-)Ensembl
RefSeq Acc Id: ENST00000574676   ⟹   ENSP00000461097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,567,007 - 2,571,471 (-)Ensembl
RefSeq Acc Id: ENST00000576251   ⟹   ENSP00000460774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,537,531 - 2,554,692 (-)Ensembl
RefSeq Acc Id: ENST00000577166   ⟹   ENSP00000458415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,554,786 - 2,571,233 (-)Ensembl
RefSeq Acc Id: ENST00000609769   ⟹   ENSP00000477089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl182,566,694 - 2,567,199 (-)Ensembl
RefSeq Acc Id: NM_001308401   ⟹   NP_001295330
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,537,530 - 2,571,505 (-)NCBI
CHM1_1182,536,901 - 2,570,875 (-)NCBI
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022840   ⟹   NP_073751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,537,530 - 2,571,505 (-)NCBI
GRCh37182,537,524 - 2,571,489 (-)RGD
Build 36182,527,524 - 2,561,489 (-)NCBI Archive
Celera182,412,830 - 2,446,793 (-)RGD
HuRef182,499,255 - 2,532,978 (-)RGD
CHM1_1182,536,901 - 2,570,875 (-)NCBI
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258132   ⟹   XP_005258189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,537,530 - 2,571,505 (-)NCBI
GRCh37182,537,524 - 2,571,489 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258133   ⟹   XP_005258190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,537,530 - 2,571,505 (-)NCBI
GRCh37182,537,524 - 2,571,489 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525730   ⟹   XP_011524032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,537,530 - 2,571,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437741   ⟹   XP_047293697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,540,667 - 2,571,505 (-)NCBI
RefSeq Acc Id: XM_047437742   ⟹   XP_047293698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,549,911 - 2,571,505 (-)NCBI
RefSeq Acc Id: XM_054318982   ⟹   XP_054174957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0182,696,418 - 2,727,252 (-)NCBI
RefSeq Acc Id: XM_054318983   ⟹   XP_054174958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBI
RefSeq Acc Id: XM_054318984   ⟹   XP_054174959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBI
RefSeq Acc Id: XM_054318985   ⟹   XP_054174960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0182,693,282 - 2,727,252 (-)NCBI
RefSeq Acc Id: XM_054318986   ⟹   XP_054174961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0182,705,664 - 2,727,252 (-)NCBI
RefSeq Acc Id: NP_073751   ⟸   NM_022840
- Peptide Label: isoform 1
- UniProtKB: Q2TAA7 (UniProtKB/Swiss-Prot),   B2RNA1 (UniProtKB/Swiss-Prot),   Q9H5U9 (UniProtKB/Swiss-Prot),   Q8N3J2 (UniProtKB/Swiss-Prot),   A8K1T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005258189   ⟸   XM_005258132
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005258190   ⟸   XM_005258133
- Peptide Label: isoform X4
- UniProtKB: I6L9E3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524032   ⟸   XM_011525730
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001295330   ⟸   NM_001308401
- Peptide Label: isoform 2
- UniProtKB: J3KNJ7 (UniProtKB/TrEMBL),   A8K1T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477089   ⟸   ENST00000609769
RefSeq Acc Id: ENSP00000461097   ⟸   ENST00000574676
RefSeq Acc Id: ENSP00000458290   ⟸   ENST00000574538
RefSeq Acc Id: ENSP00000460774   ⟸   ENST00000576251
RefSeq Acc Id: ENSP00000458415   ⟸   ENST00000577166
RefSeq Acc Id: ENSP00000320349   ⟸   ENST00000319888
RefSeq Acc Id: XP_047293697   ⟸   XM_047437741
- Peptide Label: isoform X1
- UniProtKB: A8K1T6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293698   ⟸   XM_047437742
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174960   ⟸   XM_054318985
- Peptide Label: isoform X4
- UniProtKB: I6L9E3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174959   ⟸   XM_054318984
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174958   ⟸   XM_054318983
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174957   ⟸   XM_054318982
- Peptide Label: isoform X1
- UniProtKB: A8K1T6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174961   ⟸   XM_054318986
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N3J2-F1-model_v2 AlphaFold Q8N3J2 1-472 view protein structure

Promoters
RGD ID:6794940
Promoter ID:HG_KWN:27491
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254326,   OTTHUMT00000254327
Position:
Human AssemblyChrPosition (strand)Source
Build 36182,560,901 - 2,561,652 (+)MPROMDB
RGD ID:7236821
Promoter ID:EPDNEW_H24157
Type:initiation region
Name:METTL4_1
Description:methyltransferase like 4
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
GRCh38182,571,503 - 2,571,563EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24726 AgrOrtholog
COSMIC METTL4 COSMIC
Ensembl Genes ENSG00000101574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000319888 ENTREZGENE
  ENST00000319888.10 UniProtKB/TrEMBL
  ENST00000574538 ENTREZGENE
  ENST00000574538.2 UniProtKB/Swiss-Prot
  ENST00000574676.1 UniProtKB/TrEMBL
  ENST00000576251.5 UniProtKB/TrEMBL
  ENST00000577166.5 UniProtKB/TrEMBL
  ENST00000609769.1 UniProtKB/TrEMBL
GTEx ENSG00000101574 GTEx
HGNC ID HGNC:24726 ENTREZGENE
Human Proteome Map METTL4 Human Proteome Map
InterPro DNA_methylase_N6_adenine_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MT-A70-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64863 UniProtKB/Swiss-Prot
NCBI Gene 64863 ENTREZGENE
OMIM 619626 OMIM
PANTHER N(6)-ADENINE-SPECIFIC METHYLTRANSFERASE METTL4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N6-ADENOSINE-METHYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MT-A70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134916468 PharmGKB
PROSITE MT_A70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N6_MTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1T6 ENTREZGENE, UniProtKB/TrEMBL
  B2RNA1 ENTREZGENE
  I3L0Y1_HUMAN UniProtKB/TrEMBL
  I3L3W2_HUMAN UniProtKB/TrEMBL
  I3L4A0_HUMAN UniProtKB/TrEMBL
  I6L9E3 ENTREZGENE, UniProtKB/TrEMBL
  J3KNJ7 ENTREZGENE, UniProtKB/TrEMBL
  L8EB52_HUMAN UniProtKB/TrEMBL
  METL4_HUMAN UniProtKB/Swiss-Prot
  Q2TAA7 ENTREZGENE
  Q8N3J2 ENTREZGENE
  Q9H5U9 ENTREZGENE
  V9GYU3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RNA1 UniProtKB/Swiss-Prot
  Q2TAA7 UniProtKB/Swiss-Prot
  Q9H5U9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-05-24 METTL4  methyltransferase 4, N6-adenosine  METTL4  methyltransferase like 4  Symbol and/or name change 19259463 PROVISIONAL