ATG9A (autophagy related 9A) - Rat Genome Database

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Pathways
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Gene: ATG9A (autophagy related 9A) Homo sapiens
Analyze
Symbol: ATG9A
Name: autophagy related 9A
RGD ID: 1353328
HGNC Page HGNC:22408
Description: Enables phospholipid scramblase activity. Involved in autophagosome assembly. Located in several cellular components, including Golgi apparatus; endosome; and phagophore assembly site.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: APG9 autophagy 9-like 1; apg9 autophagy 9-like 1 (s. cerevisiae); APG9-like 1; APG9L1; ATG9 autophagy related 9 homolog A; autophagy 9-like 1 protein; autophagy-related protein 9A; mATG9; MGD3208
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
GRCh382219,219,380 - 219,229,636 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,219,380 - 219,229,717 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,084,102 - 220,094,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,792,346 - 219,802,605 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,909,606 - 219,919,835NCBI
Celera2213,853,809 - 213,864,068 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,937,399 - 211,947,519 (-)NCBIHuRef
CHM1_12220,089,938 - 220,100,197 (-)NCBICHM1_1
T2T-CHM13v2.02219,704,146 - 219,714,401 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Autophagy in the heart and liver during normal aging and calorie restriction. Wohlgemuth SE, etal., Rejuvenation Res. 2007 Sep;10(3):281-92.
5. Mammalian autophagy: core molecular machinery and signaling regulation. Yang Z and Klionsky DJ, Curr Opin Cell Biol. 2010 Apr;22(2):124-31. Epub 2009 Dec 23.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15489336   PMID:15755735   PMID:16169070   PMID:16381901   PMID:16940348   PMID:17081983  
PMID:19893488   PMID:19946888   PMID:20379614   PMID:20819778   PMID:21068542   PMID:21169990   PMID:21873635   PMID:21900206   PMID:21903422   PMID:22456507   PMID:23093945   PMID:24085552  
PMID:24603492   PMID:24767251   PMID:24819384   PMID:25266655   PMID:25416956   PMID:25437307   PMID:25461811   PMID:25770209   PMID:26186194   PMID:26711178   PMID:26972000   PMID:27050377  
PMID:27070082   PMID:27085326   PMID:27265029   PMID:27316455   PMID:27510922   PMID:27587839   PMID:27609421   PMID:27663665   PMID:27758042   PMID:27934868   PMID:28380382   PMID:28514442  
PMID:28522593   PMID:28981097   PMID:28986522   PMID:29048433   PMID:29156099   PMID:29180427   PMID:29437695   PMID:29509190   PMID:29568063   PMID:30194290   PMID:30224786   PMID:30262884  
PMID:31091453   PMID:31269971   PMID:31412244   PMID:31871319   PMID:31995728   PMID:32073997   PMID:32296183   PMID:32423001   PMID:32513819   PMID:32556086   PMID:32610138   PMID:32614325  
PMID:32694731   PMID:32726170   PMID:32838362   PMID:33087821   PMID:33106658   PMID:33106659   PMID:33144569   PMID:33226137   PMID:33436498   PMID:33468622   PMID:33545068   PMID:33845483  
PMID:33850023   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34432492   PMID:34432599   PMID:34799561   PMID:34799570   PMID:35013556   PMID:35180289   PMID:35249346   PMID:35271311  
PMID:35337019   PMID:35559673   PMID:35748872   PMID:35944360   PMID:35977480   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36305789   PMID:36343573   PMID:36610398   PMID:36892222  
PMID:37100772   PMID:37115157   PMID:37219487   PMID:37405380   PMID:37689310   PMID:37782756   PMID:37938170   PMID:38228036  


Genomics

Comparative Map Data
ATG9A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,219,380 - 219,229,636 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,219,380 - 219,229,717 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,084,102 - 220,094,358 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,792,346 - 219,802,605 (-)NCBINCBI36Build 36hg18NCBI36
Build 342219,909,606 - 219,919,835NCBI
Celera2213,853,809 - 213,864,068 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,937,399 - 211,947,519 (-)NCBIHuRef
CHM1_12220,089,938 - 220,100,197 (-)NCBICHM1_1
T2T-CHM13v2.02219,704,146 - 219,714,401 (-)NCBIT2T-CHM13v2.0
Atg9a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,157,509 - 75,168,654 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,157,504 - 75,168,840 (-)EnsemblGRCm39 Ensembl
GRCm38175,180,861 - 75,192,010 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,180,860 - 75,192,196 (-)EnsemblGRCm38mm10GRCm38
MGSCv37175,177,440 - 75,188,497 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,064,012 - 75,075,343 (-)NCBIMGSCv36mm8
Celera175,671,723 - 75,682,810 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.62NCBI
Atg9a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,126,071 - 84,136,723 (-)NCBIGRCr8
mRatBN7.2976,677,403 - 76,688,050 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,677,404 - 76,687,986 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,121,980 - 85,132,633 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,250,871 - 90,261,524 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,637,084 - 88,647,737 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,382,800 - 82,393,429 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,382,800 - 82,393,382 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,152,061 - 82,162,660 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,463,655 - 74,474,286 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,610,636 - 74,621,268 (-)NCBI
Celera974,247,853 - 74,258,401 (-)NCBICelera
Cytogenetic Map9q33NCBI
Atg9a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,206,065 - 14,213,729 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,203,798 - 14,214,760 (+)NCBIChiLan1.0ChiLan1.0
ATG9A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,849,883 - 121,860,282 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,864,848 - 121,875,247 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,477,007 - 106,487,249 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,067,959 - 225,078,272 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,067,590 - 225,078,065 (-)Ensemblpanpan1.1panPan2
ATG9A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,768,287 - 25,777,529 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,768,275 - 25,890,811 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,594,184 - 26,603,430 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,783,514 - 25,792,755 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,783,514 - 25,792,506 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,687,927 - 25,697,172 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,623,048 - 25,632,281 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,643,892 - 25,653,138 (-)NCBIUU_Cfam_GSD_1.0
Atg9a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,293,177 - 175,302,830 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,635,836 - 1,645,815 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,635,958 - 1,645,600 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATG9A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,254,355 - 121,265,569 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,254,355 - 121,265,564 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,289,150 - 134,300,499 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATG9A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,123,039 - 105,133,057 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,124,412 - 105,131,409 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,263,211 - 94,273,258 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atg9a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,787,601 - 5,797,534 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,787,525 - 5,797,536 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATG9A
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_005689.2(ABCB6):c.1254C>T (p.Phe418=) single nucleotide variant Malignant melanoma [RCV000065419] Chr2:219214983 [GRCh38]
Chr2:220079705 [GRCh37]
Chr2:219787949 [NCBI36]
Chr2:2q35		 not provided
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_001077198.3(ATG9A):c.1266-5A>G single nucleotide variant not provided [RCV000892537] Chr2:219224027 [GRCh38]
Chr2:220088749 [GRCh37]
Chr2:2q35		 benign
NM_001077198.3(ATG9A):c.483C>T (p.His161=) single nucleotide variant not provided [RCV000904872] Chr2:219225104 [GRCh38]
Chr2:220089826 [GRCh37]
Chr2:2q35		 benign
NM_001077198.3(ATG9A):c.2381T>G (p.Val794Gly) single nucleotide variant not specified [RCV004296990] Chr2:219220880 [GRCh38]
Chr2:220085602 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1757G>A (p.Arg586Gln) single nucleotide variant not specified [RCV004284098] Chr2:219222736 [GRCh38]
Chr2:220087458 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_001077198.3(ATG9A):c.2240G>A (p.Gly747Glu) single nucleotide variant not specified [RCV004303989] Chr2:219221208 [GRCh38]
Chr2:220085930 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2194C>T (p.Arg732Cys) single nucleotide variant not specified [RCV004281608] Chr2:219221254 [GRCh38]
Chr2:220085976 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.632G>A (p.Arg211His) single nucleotide variant not specified [RCV004223587] Chr2:219224739 [GRCh38]
Chr2:220089461 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.976G>A (p.Ala326Thr) single nucleotide variant not specified [RCV004245802] Chr2:219224395 [GRCh38]
Chr2:220089117 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1909A>G (p.Arg637Gly) single nucleotide variant not specified [RCV004109049] Chr2:219222390 [GRCh38]
Chr2:220087112 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1684A>G (p.Ile562Val) single nucleotide variant not specified [RCV004128471] Chr2:219222809 [GRCh38]
Chr2:220087531 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.437G>A (p.Arg146Gln) single nucleotide variant not specified [RCV004240433] Chr2:219225150 [GRCh38]
Chr2:220089872 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2221A>G (p.Ser741Gly) single nucleotide variant not specified [RCV004090242] Chr2:219221227 [GRCh38]
Chr2:220085949 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.259G>A (p.Val87Met) single nucleotide variant not specified [RCV004192340] Chr2:219225526 [GRCh38]
Chr2:220090248 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1576G>A (p.Val526Ile) single nucleotide variant not specified [RCV004098820] Chr2:219223608 [GRCh38]
Chr2:220088330 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1618A>G (p.Thr540Ala) single nucleotide variant not specified [RCV004122823] Chr2:219222875 [GRCh38]
Chr2:220087597 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.376A>G (p.Ile126Val) single nucleotide variant not specified [RCV004080084] Chr2:219225211 [GRCh38]
Chr2:220089933 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2026G>A (p.Gly676Arg) single nucleotide variant not specified [RCV004144405] Chr2:219222273 [GRCh38]
Chr2:220086995 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2248G>C (p.Ala750Pro) single nucleotide variant not specified [RCV004125570] Chr2:219221200 [GRCh38]
Chr2:220085922 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.503T>C (p.Leu168Pro) single nucleotide variant not specified [RCV004155581] Chr2:219225084 [GRCh38]
Chr2:220089806 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1294T>G (p.Phe432Val) single nucleotide variant not specified [RCV004104700] Chr2:219223994 [GRCh38]
Chr2:220088716 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.692G>A (p.Arg231His) single nucleotide variant not specified [RCV004208310] Chr2:219224679 [GRCh38]
Chr2:220089401 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.367A>G (p.Ser123Gly) single nucleotide variant not specified [RCV004186429] Chr2:219225418 [GRCh38]
Chr2:220090140 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1009C>T (p.Arg337Cys) single nucleotide variant not specified [RCV004210234] Chr2:219224362 [GRCh38]
Chr2:220089084 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1579C>T (p.Arg527Cys) single nucleotide variant not specified [RCV004179525] Chr2:219223605 [GRCh38]
Chr2:220088327 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.343G>A (p.Ala115Thr) single nucleotide variant not specified [RCV004123586] Chr2:219225442 [GRCh38]
Chr2:220090164 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.41C>T (p.Ser14Phe) single nucleotide variant not specified [RCV004136503] Chr2:219227984 [GRCh38]
Chr2:220092706 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1174A>C (p.Ile392Leu) single nucleotide variant not specified [RCV004268072] Chr2:219224197 [GRCh38]
Chr2:220088919 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1766C>T (p.Ala589Val) single nucleotide variant not specified [RCV004278811] Chr2:219222727 [GRCh38]
Chr2:220087449 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1988C>T (p.Ala663Val) single nucleotide variant not specified [RCV004253641] Chr2:219222311 [GRCh38]
Chr2:220087033 [GRCh37]
Chr2:2q35		 likely benign
NM_001077198.3(ATG9A):c.1798C>T (p.Pro600Ser) single nucleotide variant not specified [RCV004254294] Chr2:219222695 [GRCh38]
Chr2:220087417 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001077198.3(ATG9A):c.242C>A (p.Thr81Asn) single nucleotide variant not specified [RCV004344550] Chr2:219225543 [GRCh38]
Chr2:220090265 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.265T>A (p.Tyr89Asn) single nucleotide variant not specified [RCV004344551] Chr2:219225520 [GRCh38]
Chr2:220090242 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_001077198.3(ATG9A):c.1279G>A (p.Asp427Asn) single nucleotide variant not specified [RCV004425410] Chr2:219224009 [GRCh38]
Chr2:220088731 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1864G>A (p.Ala622Thr) single nucleotide variant not specified [RCV004425412] Chr2:219222435 [GRCh38]
Chr2:220087157 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2305C>T (p.Pro769Ser) single nucleotide variant not specified [RCV004425413] Chr2:219221143 [GRCh38]
Chr2:220085865 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.2483C>T (p.Ser828Leu) single nucleotide variant not specified [RCV004425414] Chr2:219220778 [GRCh38]
Chr2:220085500 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.4G>A (p.Ala2Thr) single nucleotide variant not specified [RCV004425416] Chr2:219228021 [GRCh38]
Chr2:220092743 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.1316G>A (p.Arg439His) single nucleotide variant not specified [RCV004425411] Chr2:219223972 [GRCh38]
Chr2:220088694 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_001077198.3(ATG9A):c.421G>A (p.Val141Ile) single nucleotide variant not specified [RCV004425415] Chr2:219225166 [GRCh38]
Chr2:220089888 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001077198.3(ATG9A):c.536C>T (p.Thr179Met) single nucleotide variant not specified [RCV004425417] Chr2:219224835 [GRCh38]
Chr2:220089557 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9569
Count of miRNA genes:1288
Interacting mature miRNAs:1692
Transcripts:ENST00000361242, ENST00000396761, ENST00000409033, ENST00000409422, ENST00000409618, ENST00000412355, ENST00000428226, ENST00000429920, ENST00000431715, ENST00000432520, ENST00000434939, ENST00000436856, ENST00000439812, ENST00000443140, ENST00000446716, ENST00000455079, ENST00000456708, ENST00000457841, ENST00000466217, ENST00000475339, ENST00000486766, ENST00000488833
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
A002Q44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,125 - 220,084,247UniSTSGRCh37
Build 362219,792,369 - 219,792,491RGDNCBI36
Celera2213,853,832 - 213,853,954RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,422 - 211,937,544UniSTS
GeneMap99-GB4 RH Map2683.98UniSTS
RH68357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,118 - 220,084,241UniSTSGRCh37
Build 362219,792,362 - 219,792,485RGDNCBI36
Celera2213,853,825 - 213,853,948RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,415 - 211,937,538UniSTS
GeneMap99-GB4 RH Map2682.56UniSTS
NCBI RH Map21772.3UniSTS
SHGC-107518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,087,398 - 220,087,723UniSTSGRCh37
Build 362219,795,642 - 219,795,967RGDNCBI36
Celera2213,857,105 - 213,857,430RGD
Cytogenetic Map2q35UniSTS
HuRef2211,940,695 - 211,941,020UniSTS
TNG Radiation Hybrid Map2121649.0UniSTS
WI-19704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,132 - 220,084,426UniSTSGRCh37
Build 362219,792,376 - 219,792,670RGDNCBI36
Celera2213,853,839 - 213,854,133RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,429 - 211,937,723UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
Whitehead-RH Map21009.1UniSTS
D2S1807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,095,267 - 220,095,371UniSTSGRCh37
Build 362219,803,511 - 219,803,615RGDNCBI36
Celera2213,864,974 - 213,865,078RGD
Cytogenetic Map2q35UniSTS
HuRef2211,948,425 - 211,948,529UniSTS
MARC_13747-13748:1003852080:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,086,793 - 220,087,415UniSTSGRCh37
Build 362219,795,037 - 219,795,659RGDNCBI36
Celera2213,856,500 - 213,857,122RGD
HuRef2211,940,090 - 211,940,712UniSTS
ATG9A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,086,776 - 220,087,014UniSTSGRCh37
Celera2213,856,483 - 213,856,721UniSTS
HuRef2211,940,073 - 211,940,311UniSTS


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 2433 2883 1634 536 1887 377 4356 2122 3496 364 1450 1609 175 1 1203 2787 5 2
Low 6 108 92 88 64 88 1 75 238 55 10 4 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001077198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK004018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP284912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361242   ⟹   ENSP00000355173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,219,380 - 219,229,636 (-)Ensembl
RefSeq Acc Id: ENST00000396761   ⟹   ENSP00000379983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,219,380 - 219,229,717 (-)Ensembl
RefSeq Acc Id: ENST00000409033   ⟹   ENSP00000386482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,219,380 - 219,229,626 (-)Ensembl
RefSeq Acc Id: ENST00000409422   ⟹   ENSP00000386535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,220,447 - 219,229,629 (-)Ensembl
RefSeq Acc Id: ENST00000409618   ⟹   ENSP00000386710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,219,382 - 219,229,368 (-)Ensembl
RefSeq Acc Id: ENST00000412355   ⟹   ENSP00000393708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,146 - 219,229,636 (-)Ensembl
RefSeq Acc Id: ENST00000428226   ⟹   ENSP00000409164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,078 - 219,229,618 (-)Ensembl
RefSeq Acc Id: ENST00000429920   ⟹   ENSP00000400234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,221,274 - 219,223,964 (-)Ensembl
RefSeq Acc Id: ENST00000431715   ⟹   ENSP00000396404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,224,683 - 219,229,639 (-)Ensembl
RefSeq Acc Id: ENST00000432520   ⟹   ENSP00000406785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,153 - 219,229,342 (-)Ensembl
RefSeq Acc Id: ENST00000434939   ⟹   ENSP00000394345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,506 - 219,228,693 (-)Ensembl
RefSeq Acc Id: ENST00000436856   ⟹   ENSP00000401530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,224,808 - 219,229,618 (-)Ensembl
RefSeq Acc Id: ENST00000439812   ⟹   ENSP00000413569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,194 - 219,229,639 (-)Ensembl
RefSeq Acc Id: ENST00000443140   ⟹   ENSP00000416435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,494 - 219,229,325 (-)Ensembl
RefSeq Acc Id: ENST00000455079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,415 - 219,229,639 (-)Ensembl
RefSeq Acc Id: ENST00000456708   ⟹   ENSP00000390704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,196 - 219,229,639 (-)Ensembl
RefSeq Acc Id: ENST00000457841   ⟹   ENSP00000404750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,071 - 219,229,639 (-)Ensembl
RefSeq Acc Id: ENST00000466217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,332 - 219,229,594 (-)Ensembl
RefSeq Acc Id: ENST00000475339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,220,209 - 219,222,248 (-)Ensembl
RefSeq Acc Id: ENST00000486766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,225,415 - 219,229,606 (-)Ensembl
RefSeq Acc Id: ENST00000488833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,226,874 - 219,229,340 (-)Ensembl
RefSeq Acc Id: NM_001077198   ⟹   NP_001070666
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,219,380 - 219,229,636 (-)NCBI
GRCh372220,084,102 - 220,094,387 (-)NCBI
Build 362219,792,346 - 219,802,605 (-)NCBI Archive
Celera2213,853,809 - 213,864,068 (-)RGD
HuRef2211,937,399 - 211,947,568 (-)NCBI
CHM1_12220,089,938 - 220,100,246 (-)NCBI
T2T-CHM13v2.02219,704,146 - 219,714,401 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024085   ⟹   NP_076990
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,219,380 - 219,229,636 (-)NCBI
GRCh372220,084,102 - 220,094,387 (-)NCBI
Build 362219,792,346 - 219,802,605 (-)NCBI Archive
Celera2213,853,809 - 213,864,068 (-)RGD
HuRef2211,937,399 - 211,947,568 (-)NCBI
CHM1_12220,089,938 - 220,100,246 (-)NCBI
T2T-CHM13v2.02219,704,146 - 219,714,401 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104255
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,219,380 - 219,229,636 (-)NCBI
HuRef2211,937,399 - 211,947,568 (-)NCBI
CHM1_12220,089,938 - 220,100,246 (-)NCBI
T2T-CHM13v2.02219,704,146 - 219,714,401 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_076990   ⟸   NM_024085
- UniProtKB: Q9H6L1 (UniProtKB/Swiss-Prot),   Q9BVL5 (UniProtKB/Swiss-Prot),   Q8WU65 (UniProtKB/Swiss-Prot),   Q8NDK6 (UniProtKB/Swiss-Prot),   Q7Z320 (UniProtKB/Swiss-Prot),   Q7Z317 (UniProtKB/Swiss-Prot),   Q6P0N7 (UniProtKB/Swiss-Prot),   Q3ZAQ6 (UniProtKB/Swiss-Prot),   Q9HAG7 (UniProtKB/Swiss-Prot),   Q7Z3C6 (UniProtKB/Swiss-Prot),   B3KPP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070666   ⟸   NM_001077198
- UniProtKB: Q9H6L1 (UniProtKB/Swiss-Prot),   Q9BVL5 (UniProtKB/Swiss-Prot),   Q8WU65 (UniProtKB/Swiss-Prot),   Q8NDK6 (UniProtKB/Swiss-Prot),   Q7Z320 (UniProtKB/Swiss-Prot),   Q7Z317 (UniProtKB/Swiss-Prot),   Q6P0N7 (UniProtKB/Swiss-Prot),   Q3ZAQ6 (UniProtKB/Swiss-Prot),   Q9HAG7 (UniProtKB/Swiss-Prot),   Q7Z3C6 (UniProtKB/Swiss-Prot),   B3KPP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413569   ⟸   ENST00000439812
RefSeq Acc Id: ENSP00000393708   ⟸   ENST00000412355
RefSeq Acc Id: ENSP00000409164   ⟸   ENST00000428226
RefSeq Acc Id: ENSP00000355173   ⟸   ENST00000361242
RefSeq Acc Id: ENSP00000400234   ⟸   ENST00000429920
RefSeq Acc Id: ENSP00000390704   ⟸   ENST00000456708
RefSeq Acc Id: ENSP00000404750   ⟸   ENST00000457841
RefSeq Acc Id: ENSP00000416435   ⟸   ENST00000443140
RefSeq Acc Id: ENSP00000396404   ⟸   ENST00000431715
RefSeq Acc Id: ENSP00000406785   ⟸   ENST00000432520
RefSeq Acc Id: ENSP00000394345   ⟸   ENST00000434939
RefSeq Acc Id: ENSP00000386710   ⟸   ENST00000409618
RefSeq Acc Id: ENSP00000386482   ⟸   ENST00000409033
RefSeq Acc Id: ENSP00000386535   ⟸   ENST00000409422
RefSeq Acc Id: ENSP00000379983   ⟸   ENST00000396761
RefSeq Acc Id: ENSP00000401530   ⟸   ENST00000436856

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z3C6-F1-model_v2 AlphaFold Q7Z3C6 1-839 view protein structure

Promoters
RGD ID:6862892
Promoter ID:EPDNEW_H4611
Type:initiation region
Name:ATG9A_2
Description:autophagy related 9A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4612  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,219,644 - 219,219,704EPDNEW
RGD ID:6862894
Promoter ID:EPDNEW_H4612
Type:initiation region
Name:ATG9A_1
Description:autophagy related 9A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4611  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,229,629 - 219,229,689EPDNEW
RGD ID:6797425
Promoter ID:HG_KWN:37330
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000408417,   OTTHUMT00000335949
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,796,716 - 219,797,216 (-)MPROMDB
RGD ID:6796796
Promoter ID:HG_KWN:37332
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409422,   ENST00000409618,   NM_001042410,   NM_018089,   OTTHUMT00000335791,   OTTHUMT00000335793,   OTTHUMT00000335794,   OTTHUMT00000335795,   OTTHUMT00000335796,   OTTHUMT00000335799,   OTTHUMT00000335800,   OTTHUMT00000335801,   OTTHUMT00000335802,   OTTHUMT00000335803,   OTTHUMT00000335804,   OTTHUMT00000335805,   OTTHUMT00000335806,   OTTHUMT00000335807,   OTTHUMT00000335808,   OTTHUMT00000335809,   OTTHUMT00000335810,   OTTHUMT00000335811,   OTTHUMT00000335812,   OTTHUMT00000335928,   OTTHUMT00000335933,   OTTHUMT00000335934,   OTTHUMT00000335935,   OTTHUMT00000335936,   OTTHUMT00000335937,   OTTHUMT00000335938,   OTTHUMT00000335939,   OTTHUMT00000335940,   OTTHUMT00000335941,   OTTHUMT00000335942,   OTTHUMT00000335943,   OTTHUMT00000335944,   OTTHUMT00000335945,   OTTHUMT00000335946,   UC002VKE.1,   UC002VKF.1,   UC002VKH.1,   UC002VKJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,802,621 - 219,803,332 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22408 AgrOrtholog
COSMIC ATG9A COSMIC
Ensembl Genes ENSG00000198925 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361242 ENTREZGENE
  ENST00000361242.9 UniProtKB/Swiss-Prot
  ENST00000396761 ENTREZGENE
  ENST00000396761.6 UniProtKB/Swiss-Prot
  ENST00000409033 ENTREZGENE
  ENST00000409033.7 UniProtKB/Swiss-Prot
  ENST00000409422.5 UniProtKB/Swiss-Prot
  ENST00000409618.5 UniProtKB/Swiss-Prot
  ENST00000412355.5 UniProtKB/TrEMBL
  ENST00000428226.5 UniProtKB/TrEMBL
  ENST00000429920.1 UniProtKB/TrEMBL
  ENST00000431715.5 UniProtKB/TrEMBL
  ENST00000432520.5 UniProtKB/TrEMBL
  ENST00000434939.1 UniProtKB/TrEMBL
  ENST00000436856.5 UniProtKB/TrEMBL
  ENST00000439812.5 UniProtKB/TrEMBL
  ENST00000443140.5 UniProtKB/TrEMBL
  ENST00000456708.5 UniProtKB/TrEMBL
  ENST00000457841.5 UniProtKB/TrEMBL
GTEx ENSG00000198925 GTEx
HGNC ID HGNC:22408 ENTREZGENE
Human Proteome Map ATG9A Human Proteome Map
InterPro Autophagy-rel_prot_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79065 UniProtKB/Swiss-Prot
NCBI Gene 79065 ENTREZGENE
OMIM 612204 OMIM
PANTHER AUTOPHAGY-RELATED PROTEIN 9A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam APG9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134931318 PharmGKB
UniProt ATG9A_HUMAN UniProtKB/Swiss-Prot
  B3KPP7 ENTREZGENE, UniProtKB/TrEMBL
  C9IYZ9_HUMAN UniProtKB/TrEMBL
  C9JD65_HUMAN UniProtKB/TrEMBL
  C9JDK4_HUMAN UniProtKB/TrEMBL
  C9JFV2_HUMAN UniProtKB/TrEMBL
  C9JKV7_HUMAN UniProtKB/TrEMBL
  C9JS65_HUMAN UniProtKB/TrEMBL
  C9JX27_HUMAN UniProtKB/TrEMBL
  C9JXG2_HUMAN UniProtKB/TrEMBL
  F2Z3I6_HUMAN UniProtKB/TrEMBL
  H7C1G6_HUMAN UniProtKB/TrEMBL
  Q3ZAQ6 ENTREZGENE
  Q6P0N7 ENTREZGENE
  Q7Z317 ENTREZGENE
  Q7Z320 ENTREZGENE
  Q7Z3C6 ENTREZGENE
  Q8NDK6 ENTREZGENE
  Q8WU65 ENTREZGENE
  Q9BVL5 ENTREZGENE
  Q9H6L1 ENTREZGENE
  Q9HAG7 ENTREZGENE
UniProt Secondary Q3ZAQ6 UniProtKB/Swiss-Prot
  Q6P0N7 UniProtKB/Swiss-Prot
  Q7Z317 UniProtKB/Swiss-Prot
  Q7Z320 UniProtKB/Swiss-Prot
  Q8NDK6 UniProtKB/Swiss-Prot
  Q8WU65 UniProtKB/Swiss-Prot
  Q9BVL5 UniProtKB/Swiss-Prot
  Q9H6L1 UniProtKB/Swiss-Prot
  Q9HAG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-06-12 ATG9A  autophagy related 9A  ATG9A  ATG9 autophagy related 9 homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED