MYO1G (myosin IG) - Rat Genome Database
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Gene: MYO1G (myosin IG) Homo sapiens
Analyze
Symbol: MYO1G
Name: myosin IG
RGD ID: 1314390
HGNC Page HGNC
Description: Predicted to have actin filament binding activity; nucleoside-triphosphatase activity; and phosphatidylinositol phosphate binding activity. Predicted to be involved in several processes, including Fc-gamma receptor signaling pathway involved in phagocytosis; T cell migration; and vesicle transport along actin filament. Localizes to plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: HA2; HLA-HA2; MGC142104; MHAG; minor histocompatibility antigen HA-2; myosin-Ig; unconventional myosin-Ig
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
GRCh38.p13 Ensembl744,962,662 - 44,979,088 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,962,662 - 44,979,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37745,002,260 - 45,018,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,968,786 - 44,985,193 (-)NCBINCBI36hg18NCBI36
Build 34744,775,500 - 44,791,908NCBI
Celera745,101,009 - 45,117,450 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,887,423 - 44,903,867 (-)NCBIHuRef
CHM1_1745,006,172 - 45,022,616 (-)NCBICHM1_1
CRA_TCAGchr7v2745,041,716 - 45,058,158 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:7539551   PMID:11544309   PMID:12202484   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15489334   PMID:16344560   PMID:19041431   PMID:19946888   PMID:19968988  
PMID:20071333   PMID:20353833   PMID:20458337   PMID:20509834   PMID:20653428   PMID:21873635   PMID:22939629   PMID:23874603   PMID:26496610   PMID:26618866   PMID:27403598   PMID:29478914  
PMID:30397336  


Genomics

Comparative Map Data
MYO1G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl744,962,662 - 44,979,088 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,962,662 - 44,979,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37745,002,260 - 45,018,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,968,786 - 44,985,193 (-)NCBINCBI36hg18NCBI36
Build 34744,775,500 - 44,791,908NCBI
Celera745,101,009 - 45,117,450 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,887,423 - 44,903,867 (-)NCBIHuRef
CHM1_1745,006,172 - 45,022,616 (-)NCBICHM1_1
CRA_TCAGchr7v2745,041,716 - 45,058,158 (-)NCBI
Myo1g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,456,548 - 6,470,960 (-)NCBIGRCm39mm39
GRCm38116,506,548 - 6,520,960 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,506,548 - 6,520,965 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,406,551 - 6,420,961 (-)NCBIGRCm37mm9NCBIm37
MGSCv36116,406,555 - 6,420,961 (-)NCBImm8
Celera116,993,630 - 7,008,035 (-)NCBICelera
Cytogenetic Map11A1NCBI
Myo1g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01486,781,243 - 86,796,393 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,781,202 - 86,796,378 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01480,414,799 - 80,429,940 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41487,275,457 - 87,290,598 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11487,294,601 - 87,303,399 (-)NCBI
Celera1480,268,394 - 80,283,535 (-)NCBICelera
Cytogenetic Map14q21NCBI
Myo1g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,288,373 - 7,302,430 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,289,097 - 7,300,551 (+)NCBIChiLan1.0ChiLan1.0
MYO1G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1745,743,300 - 45,759,819 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,740,036 - 45,759,819 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0745,676,225 - 45,693,013 (-)NCBIMhudiblu_PPA_v0panPan3
LOC608648
(Canis lupus familiaris - dog)
No map positions available.
Myo1g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647819,788,032 - 19,802,546 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO1G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,466,449 - 50,483,518 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,466,450 - 50,483,520 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,377,577 - 55,389,602 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYO1G
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2113,710,541 - 13,727,515 (+)Ensembl
ChlSab1.12113,710,572 - 13,727,055 (+)NCBI
Myo1g
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247407,362,653 - 7,374,041 (+)NCBI

Position Markers
MYO1G  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37745,006,272 - 45,006,429UniSTSGRCh37
Celera745,105,020 - 45,105,177UniSTS
HuRef744,891,436 - 44,891,593UniSTS
CRA_TCAGchr7v2745,045,728 - 45,045,885UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4037
Count of miRNA genes:1074
Interacting mature miRNAs:1323
Transcripts:ENST00000258787, ENST00000463516, ENST00000464434, ENST00000480503, ENST00000483585, ENST00000488554, ENST00000495831
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.


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 161 882 162 11 1783 5 90 15 55 15 61 751 6 112 46
Low 2134 1820 1495 566 133 409 3436 1429 2177 281 1239 664 160 1 1092 2176 3 2
Below cutoff 106 288 53 37 27 38 698 731 1459 102 126 146 6 566 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_033054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA651942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF380932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF380933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI910371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB131347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258787   ⟹   ENSP00000258787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,662 - 44,979,015 (-)Ensembl
RefSeq Acc Id: ENST00000463516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,666 - 44,975,215 (-)Ensembl
RefSeq Acc Id: ENST00000464434   ⟹   ENSP00000419847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,968,523 - 44,979,088 (-)Ensembl
RefSeq Acc Id: ENST00000480503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,968,523 - 44,979,000 (-)Ensembl
RefSeq Acc Id: ENST00000483585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,662 - 44,979,079 (-)Ensembl
RefSeq Acc Id: ENST00000488554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,666 - 44,975,106 (-)Ensembl
RefSeq Acc Id: ENST00000495831   ⟹   ENSP00000417650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,662 - 44,979,069 (-)Ensembl
RefSeq Acc Id: ENST00000648014   ⟹   ENSP00000498184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,962,856 - 44,979,033 (-)Ensembl
RefSeq Acc Id: NM_033054   ⟹   NP_149043
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,962,662 - 44,979,015 (-)NCBI
GRCh37745,002,260 - 45,018,704 (-)RGD
Build 36744,968,786 - 44,985,193 (-)NCBI Archive
Celera745,101,009 - 45,117,450 (-)RGD
HuRef744,887,423 - 44,903,867 (-)RGD
CHM1_1745,006,172 - 45,022,616 (-)NCBI
CRA_TCAGchr7v2745,041,716 - 45,058,158 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017012503   ⟹   XP_016867992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,962,662 - 44,979,073 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012504   ⟹   XP_016867993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,962,662 - 44,979,015 (-)NCBI
Sequence:
RefSeq Acc Id: XR_926943
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,967,895 - 44,979,105 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_149043   ⟸   NM_033054
- UniProtKB: B0I1T2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016867993   ⟸   XM_017012504
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016867992   ⟸   XM_017012503
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000498184   ⟸   ENST00000648014
RefSeq Acc Id: ENSP00000419847   ⟸   ENST00000464434
RefSeq Acc Id: ENSP00000258787   ⟸   ENST00000258787
RefSeq Acc Id: ENSP00000417650   ⟸   ENST00000495831
Protein Domains
IQ   Myosin motor   TH1

Promoters
RGD ID:6816532
Promoter ID:HG_SPT:56147
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:AA256500,   AA291012,   AA651942,   AA806301,   AA825776,   AA932955,   AI057017,   AI089291,   AI239859,   AI243382,   AI379127,   AI439640,   AI492178,   AI493662,   AI693688,   AI911826,   AL564349,   AL577002,   AW205176,   AW205734,   AW207182,   AW270056,   AW971861,   BE271001,   BE674979,   BM194553,   BU729626,   BX331198,   BX344591,   BX346308,   BX363215,   BX365387,   BX384034,   BX400981,   BX415134,   BX456559,   CA439676,   CB530019,   CD366382,   CD367020,   H58752
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,968,706 - 44,969,206 (+)MPROMDB
RGD ID:6815619
Promoter ID:HG_MRA:14983
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC015693,   CR597530
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,972,351 - 44,972,851 (-)MPROMDB
RGD ID:6805939
Promoter ID:HG_KWN:57277
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003TMF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,973,701 - 44,974,902 (-)MPROMDB
RGD ID:6805940
Promoter ID:HG_KWN:57278
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003TMG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,978,301 - 44,982,337 (-)MPROMDB
RGD ID:7210535
Promoter ID:EPDNEW_H11013
Type:initiation region
Name:MYO1G_1
Description:myosin IG
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
GRCh38744,979,015 - 44,979,075EPDNEW
RGD ID:6805941
Promoter ID:HG_KWN:57279
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003TMI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,982,836 - 44,983,857 (-)MPROMDB
RGD ID:6805943
Promoter ID:HG_KWN:57280
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_033054,   OTTHUMT00000341833,   UC010KYM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,984,961 - 44,985,802 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_033054.2(MYO1G):c.963C>T (p.Leu321=) single nucleotide variant Malignant melanoma [RCV000067886] Chr7:44970943 [GRCh38]
Chr7:45010542 [GRCh37]
Chr7:44977067 [NCBI36]
Chr7:7p13
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1
pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh38/hg38 7p13(chr7:44345798-45076469)x3 copy number gain See cases [RCV000140230] Chr7:44345798..45076469 [GRCh38]
Chr7:44385397..45116068 [GRCh37]
Chr7:44351922..45082593 [NCBI36]
Chr7:7p13
uncertain significance
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:44688036-45364793)x3 copy number gain See cases [RCV000511814] Chr7:44688036..45364793 [GRCh37]
Chr7:7p13
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:45000515-45018263)x1 copy number loss not provided [RCV000746676] Chr7:45000515..45018263 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:44990619-45233464)x3 copy number gain not provided [RCV001005946] Chr7:44990619..45233464 [GRCh37]
Chr7:7p13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13880 AgrOrtholog
COSMIC MYO1G COSMIC
Ensembl Genes ENSG00000136286 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000258787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417650 UniProtKB/TrEMBL
  ENSP00000419847 UniProtKB/TrEMBL
  ENSP00000498184 UniProtKB/TrEMBL
Ensembl Transcript ENST00000258787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000464434 UniProtKB/TrEMBL
  ENST00000495831 UniProtKB/TrEMBL
  ENST00000648014 UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136286 GTEx
HGNC ID HGNC:13880 ENTREZGENE
Human Proteome Map MYO1G Human Proteome Map
InterPro Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_TH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc_Myo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64005 UniProtKB/Swiss-Prot
NCBI Gene 64005 ENTREZGENE
OMIM 600642 OMIM
Pfam Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_TH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31403 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MYSc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.37617 ENTREZGENE
UniProt A0A3B3IU30_HUMAN UniProtKB/TrEMBL
  B0I1T2 ENTREZGENE
  F8WAS7_HUMAN UniProtKB/TrEMBL
  F8WEW9_HUMAN UniProtKB/TrEMBL
  MYO1G_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8TEI9 UniProtKB/Swiss-Prot
  Q8TES2 UniProtKB/Swiss-Prot
  Q96BE2 UniProtKB/Swiss-Prot
  Q96RI5 UniProtKB/Swiss-Prot
  Q96RI6 UniProtKB/Swiss-Prot