AATF (apoptosis antagonizing transcription factor) - Rat Genome Database

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Gene: AATF (apoptosis antagonizing transcription factor) Homo sapiens
Analyze
Symbol: AATF
Name: apoptosis antagonizing transcription factor
RGD ID: 734398
HGNC Page HGNC:19235
Description: Enables leucine zipper domain binding activity. Involved in several processes, including negative regulation of superoxide anion generation; positive regulation of transcription by RNA polymerase II; and ribosomal small subunit biogenesis. Located in cytoplasm; nucleolus; and nucleoplasm. Part of small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apoptosis-antagonizing transcription factor; BFR2; CHE-1; CHE1; DED; rb-binding protein Che-1
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
GRCh381736,948,954 - 37,056,871 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1736,948,925 - 37,056,871 (+)EnsemblGRCh38hg38GRCh38
GRCh371735,306,254 - 35,414,171 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,380,288 - 32,488,284 (+)NCBINCBI36Build 36hg18NCBI36
Build 341732,380,370 - 32,488,283NCBI
Celera1732,128,305 - 32,236,266 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1731,242,118 - 31,349,732 (+)NCBIHuRef
CHM1_11735,340,438 - 35,448,434 (+)NCBICHM1_1
T2T-CHM13v2.01737,936,011 - 38,043,848 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Autistic behavior  (IAGP)
Schizophrenia  (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
Additional References at PubMed
PMID:10580117   PMID:10783144   PMID:11027528   PMID:11790298   PMID:12376548   PMID:12429849   PMID:12450794   PMID:12477932   PMID:12787561   PMID:12847090   PMID:14627703   PMID:14697667  
PMID:14702039   PMID:14761944   PMID:15207272   PMID:15231747   PMID:15489334   PMID:15635413   PMID:16189514   PMID:16565220   PMID:17006618   PMID:17081983   PMID:17157788   PMID:17468107  
PMID:17488777   PMID:18029348   PMID:18049476   PMID:18341201   PMID:19454010   PMID:19834535   PMID:20025740   PMID:20211142   PMID:20532202   PMID:20708154   PMID:21081503   PMID:21145461  
PMID:21653829   PMID:21873635   PMID:21988832   PMID:22586326   PMID:22658674   PMID:22678362   PMID:22681889   PMID:22751105   PMID:22909821   PMID:22933572   PMID:23146908   PMID:23251661  
PMID:23798705   PMID:23801113   PMID:24711643   PMID:24778252   PMID:25210797   PMID:25231211   PMID:25416956   PMID:25515538   PMID:25665578   PMID:25693804   PMID:25770584   PMID:25900982  
PMID:25976474   PMID:25996291   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26822515   PMID:27012205   PMID:27248496   PMID:27503909   PMID:27599843  
PMID:27611213   PMID:27639846   PMID:27880917   PMID:27926873   PMID:28077445   PMID:28214471   PMID:28218735   PMID:28514442   PMID:28977666   PMID:29232376   PMID:29321668   PMID:29367285  
PMID:29395067   PMID:29467282   PMID:29478914   PMID:29509190   PMID:29568061   PMID:29943642   PMID:30021884   PMID:30033366   PMID:30394550   PMID:30404004   PMID:30415952   PMID:30463901  
PMID:30554943   PMID:30610504   PMID:30804502   PMID:31091453   PMID:31182584   PMID:31363146   PMID:31527615   PMID:31586073   PMID:32019955   PMID:32296183   PMID:32353859   PMID:32421830  
PMID:32687490   PMID:32707033   PMID:32814053   PMID:32877691   PMID:33060197   PMID:33226137   PMID:33536335   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34266450   PMID:34373451  
PMID:34516797   PMID:34578187   PMID:34597346   PMID:35013218   PMID:35253629   PMID:35271311   PMID:35850772   PMID:35944360   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36373674  
PMID:36424410   PMID:36526897   PMID:36574265   PMID:36912080   PMID:37071664   PMID:37689310   PMID:37742722   PMID:37827155  


Genomics

Comparative Map Data
AATF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381736,948,954 - 37,056,871 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1736,948,925 - 37,056,871 (+)EnsemblGRCh38hg38GRCh38
GRCh371735,306,254 - 35,414,171 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,380,288 - 32,488,284 (+)NCBINCBI36Build 36hg18NCBI36
Build 341732,380,370 - 32,488,283NCBI
Celera1732,128,305 - 32,236,266 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1731,242,118 - 31,349,732 (+)NCBIHuRef
CHM1_11735,340,438 - 35,448,434 (+)NCBICHM1_1
T2T-CHM13v2.01737,936,011 - 38,043,848 (+)NCBIT2T-CHM13v2.0
Aatf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,313,682 - 84,404,433 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1184,313,681 - 84,404,348 (-)EnsemblGRCm39 Ensembl
GRCm381184,422,856 - 84,513,584 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1184,422,855 - 84,513,522 (-)EnsemblGRCm38mm10GRCm38
MGSCv371184,236,358 - 84,327,003 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361184,239,051 - 84,329,696 (-)NCBIMGSCv36mm8
Celera1194,034,340 - 94,126,318 (-)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.3NCBI
Aatf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81069,796,502 - 69,889,671 (-)NCBIGRCr8
mRatBN7.21069,299,029 - 69,392,207 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1069,299,037 - 69,392,201 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1073,919,023 - 74,012,160 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01073,424,050 - 73,517,193 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01068,888,465 - 68,981,611 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01071,744,648 - 71,837,851 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1071,744,659 - 71,837,851 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01071,654,744 - 71,747,166 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41072,701,724 - 72,794,495 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11072,716,103 - 72,808,865 (-)NCBI
Celera1068,226,097 - 68,318,677 (-)NCBICelera
Cytogenetic Map10q26NCBI
Aatf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955451929,510 - 1,033,492 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955451929,278 - 1,033,665 (-)NCBIChiLan1.0ChiLan1.0
AATF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21927,706,527 - 27,808,516 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11729,588,204 - 29,690,174 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01720,027,351 - 20,129,255 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11720,325,282 - 20,426,359 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1720,325,282 - 20,426,359 (-)Ensemblpanpan1.1panPan2
AATF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1936,773,313 - 36,878,752 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl936,773,312 - 36,878,745 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha935,998,704 - 36,107,988 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0937,583,095 - 37,693,391 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl937,582,958 - 37,689,359 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1936,364,898 - 36,474,825 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0936,652,569 - 36,762,368 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0936,739,791 - 36,849,296 (+)NCBIUU_Cfam_GSD_1.0
Aatf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560235,755,004 - 35,865,290 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364901,209,967 - 1,319,802 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364901,209,760 - 1,320,046 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AATF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1238,461,830 - 38,564,306 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11238,461,809 - 38,563,537 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21240,078,719 - 40,180,472 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AATF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11630,728,070 - 30,838,816 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1630,728,070 - 30,838,704 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660771,459,496 - 1,571,604 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aatf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248713,965,985 - 4,079,281 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248713,966,323 - 4,078,970 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AATF
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh37/hg19 17q12(chr17:34611352-36248918) copy number gain Elevated circulating creatine kinase concentration [RCV000626519] Chr17:34611352..36248918 [GRCh37]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000050286] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34856055-36248918)x1 copy number loss See cases [RCV000050449] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x3 copy number gain See cases [RCV000050448] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34611352-36248918)x3 copy number gain See cases [RCV000051076] Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000051077] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36422657-37890225)x1 copy number loss See cases [RCV000054376] Chr17:36422657..37890225 [GRCh38]
Chr17:34768966..36263019 [GRCh37]
Chr17:31843079..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36493974-37890225)x1 copy number loss See cases [RCV000054378] Chr17:36493974..37890225 [GRCh38]
Chr17:34849818..36263019 [GRCh37]
Chr17:31923931..33346418 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500015-37889437)x3 copy number gain See cases [RCV000054380] Chr17:36500015..37889437 [GRCh38]
Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34855855-36249059)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|See cases [RCV000054381] Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12		 pathogenic
NM_012138.3(AATF):c.1620G>A (p.Arg540=) single nucleotide variant Malignant melanoma [RCV000071427] Chr17:37056601 [GRCh38]
Chr17:35413901 [GRCh37]
Chr17:32488014 [NCBI36]
Chr17:17q12		 not provided
GRCh37/hg19 17q12(chr17:34842545-36293050) copy number loss HNF1B-related disorders [RCV003236721] Chr17:34842545..36293050 [GRCh37]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q12(chr17:34450405-36248918)x1 copy number loss See cases [RCV000133661] Chr17:34450405..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35076189-36248926)x1 copy number loss See cases [RCV000134125] Chr17:35076189..36248926 [GRCh37]
Chr17:32150302..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000148166] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36188700)x1 copy number loss See cases [RCV000137917] Chr17:34817422..36188700 [GRCh37]
Chr17:31891535..33262813 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36500465-37889304)x1 copy number loss See cases [RCV000138632] Chr17:36500465..37889304 [GRCh38]
Chr17:34856305..36248926 [GRCh37]
Chr17:31930418..33323039 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36461608-37889296)x3 copy number gain See cases [RCV000138608] Chr17:36461608..37889296 [GRCh38]
Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34817422-36248918)x1 copy number loss See cases [RCV000138609] Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12		 pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34360168-36248859)x1 copy number loss See cases [RCV000140228] Chr17:34360168..36248859 [GRCh37]
Chr17:31384281..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x3 copy number gain See cases [RCV000141116] Chr17:34856055..36248859 [GRCh37]
Chr17:31930168..33322972 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x1 copy number loss See cases [RCV000141117] Chr17:34856055..36248859 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36244358)x3 copy number gain See cases [RCV000141832] Chr17:34437482..36244358 [GRCh37]
Chr17:31461595..33318471 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36566143-37808105)x3 copy number gain See cases [RCV000141558] Chr17:36566143..37808105 [GRCh38]
Chr17:34817452..36168075 [GRCh37]
Chr17:31891565..33242188 [NCBI36]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283612)x1 copy number loss See cases [RCV000142090] Chr17:34822466..36283612 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000142180] Chr17:34822465..36283807 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain See cases [RCV000143663] Chr17:34822465..36283612 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000148256] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x1 copy number loss See cases [RCV000148120] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x3 copy number gain See cases [RCV000148124] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248918)x3 copy number gain See cases [RCV000148172] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12		 pathogenic
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del deletion Chromosome 17q12 deletion syndrome [RCV000191150] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34508117-36173763)x1 copy number loss See cases [RCV000054375] Chr17:34508117..36173763 [GRCh37]
Chr17:31474518..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151346)x1 copy number loss See cases [RCV000240223] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36177728)x1 copy number loss See cases [RCV000051228] Chr17:34899836..36177728 [GRCh37]
Chr17:31973949..33251841 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34310998-36297053)x3 copy number gain See cases [RCV000051912] Chr17:34310998..36297053 [GRCh37]
Chr17:31335111..33373530 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34360168-36209228)x3 copy number gain See cases [RCV000051914] Chr17:34360168..36209228 [GRCh37]
Chr17:31384281..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815184-36209228)x3 copy number gain See cases [RCV000051915] Chr17:34815184..36209228 [GRCh37]
Chr17:31889297..33283341 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36173763)x3 copy number gain See cases [RCV000051916] Chr17:34817422..36173763 [GRCh37]
Chr17:31891535..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36168104)x1 copy number loss See cases [RCV000054377] Chr17:34817422..36168104 [GRCh37]
Chr17:31891535..33242217 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34851537-36173763)x1 copy number loss See cases [RCV000054379] Chr17:34851537..36173763 [GRCh37]
Chr17:31925650..33247876 [NCBI36]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34899836-36224189)x1 copy number loss See cases [RCV000054382] Chr17:34899836..36224189 [GRCh37]
Chr17:31973949..33298302 [NCBI36]
Chr17:17q12		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225391] Chr17:34815551..36249800 [GRCh37]
Chr17:17q12		 pathogenic|likely pathogenic
GRCh37/hg19 17q12(chr17:34815551-36220373)x3 copy number gain Premature ovarian failure [RCV000225163] Chr17:34815551..36220373 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34849849-36151346)x3 copy number gain See cases [RCV000240094] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34842544-36104875)x3 copy number gain not provided [RCV002292965] Chr17:34842544..36104875 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815072-36192492)x1 deletion Chromosome 17q12 deletion syndrome [RCV000416291] Chr17:34815072..36192492 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36307773)x3 copy number gain See cases [RCV000449357] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain See cases [RCV000449434] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151287)x3 copy number gain See cases [RCV000446641] Chr17:34849849..36151287 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x1 copy number loss See cases [RCV000447417] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36208392)x1 copy number loss VATER association [RCV000522672] Chr17:34815551..36208392 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000448533] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34425362-36410559)x3 copy number gain See cases [RCV000447719] Chr17:34425362..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x3 copy number gain See cases [RCV000512116] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss See cases [RCV000515600] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36300630)x1 copy number loss See cases [RCV000510401] Chr17:34822465..36300630 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36244358)x1 copy number loss See cases [RCV000510257] Chr17:34822466..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36404555)x3 copy number gain See cases [RCV000510217] Chr17:34437482..36404555 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x1 copy number loss See cases [RCV000510588] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822467-36307773)x1 copy number loss See cases [RCV000511448] Chr17:34822467..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437482-36350584)x3 copy number gain See cases [RCV000511415] Chr17:34437482..36350584 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain See cases [RCV000511856] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36300466)x1 copy number loss See cases [RCV000511202] Chr17:34822466..36300466 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36397323)x1 copy number loss See cases [RCV000511069] Chr17:34822465..36397323 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36225988)x3 copy number gain See cases [RCV000511229] Chr17:34822465..36225988 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss See cases [RCV000511092] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36351934)x1 copy number loss See cases [RCV000510732] Chr17:34822466..36351934 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34447113-36283612)x1 copy number loss See cases [RCV000510761] Chr17:34447113..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36283612)x1 copy number loss See cases [RCV000510867] Chr17:34475679..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss See cases [RCV000511282] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316144)x1 copy number loss See cases [RCV000510825] Chr17:34822465..36316144 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss See cases [RCV000512367] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283807)x1 copy number loss See cases [RCV000512433] Chr17:34822466..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:34425362-36283612)x3 copy number gain not provided [RCV000683920] Chr17:34425362..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34426244-36225988)x3 copy number gain not provided [RCV000683921] Chr17:34426244..36225988 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34475679-36311009)x1 copy number loss not provided [RCV000683922] Chr17:34475679..36311009 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34477385-36404555)x1 copy number loss not provided [RCV000683923] Chr17:34477385..36404555 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244332)x3 copy number gain not provided [RCV000683924] Chr17:34822465..36244332 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss not provided [RCV000683925] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss not provided [RCV000683927] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x3 copy number gain not provided [RCV000683929] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain not provided [RCV000683930] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36371146)x3 copy number gain not provided [RCV000683931] Chr17:34822465..36371146 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36404136)x1 copy number loss not provided [RCV000683932] Chr17:34822465..36404136 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain not provided [RCV000683926] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss not provided [RCV000683928] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12		 pathogenic
NC_000017.10:g.(?_34856670)_(35478412_?)del deletion Hyperphosphatasia with intellectual disability syndrome 5 [RCV000707810] Chr17:34856670..35478412 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.11:g.(?_36357256)_(37995300_?)del deletion Schizophrenia [RCV000754204] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 pathogenic
NC_000017.11:g.(?_36143765)_(37995300_?)del deletion Autism [RCV000754203] Chr17:36143765..37995300 [GRCh38]
Chr17:17q12		 pathogenic
Single allele duplication Autism [RCV000754205] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12		 likely pathogenic
NC_000017.11:g.(?_36446252)_(37887875_?)del deletion Autism [RCV000754206] Chr17:36446252..37887875 [GRCh38]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34812294-36272082)x3 copy number gain not provided [RCV000752026] Chr17:34812294..36272082 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34813067-36223325)x3 copy number gain not provided [RCV000752027] Chr17:34813067..36223325 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss not provided [RCV000752028] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34815551-36307189)x1 copy number loss not provided [RCV000752029] Chr17:34815551..36307189 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34819191-36104803) copy number gain Chromosome 17q12 duplication syndrome [RCV000767659] Chr17:34819191..36104803 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437475-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767740] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34842059-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767688] Chr17:34842059..36214026 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34848678-36194230) copy number gain Chromosome 17q12 duplication syndrome [RCV000767620] Chr17:34848678..36194230 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34819191-36194230) copy number loss Chromosome 17q12 deletion syndrome [RCV000767697] Chr17:34819191..36194230 [GRCh37]
Chr17:17q12		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787391] Chr17:34815172..36249799 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_012138.4(AATF):c.806C>T (p.Pro269Leu) single nucleotide variant Inborn genetic diseases [RCV003288870] Chr17:36953881 [GRCh38]
Chr17:35311181 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.941C>T (p.Ala314Val) single nucleotide variant Inborn genetic diseases [RCV003247399] Chr17:36986725 [GRCh38]
Chr17:35344024 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:35258617-35825367)x3 copy number gain not provided [RCV001006896] Chr17:35258617..35825367 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x3 copy number gain See cases [RCV001194546] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain not provided [RCV001259334] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559) copy number loss Chromosome 17q12 deletion syndrome [RCV002280708] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34841190-35733119) copy number gain Autism with high cognitive abilities [RCV001291968] Chr17:34841190..35733119 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh37/hg19 17q12(chr17:34815466-36249366)x3 copy number gain not provided [RCV001537910] Chr17:34815466..36249366 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34817422-36243028) copy number gain Positional foot deformity [RCV001291945] Chr17:34817422..36243028 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34437475-36243028) copy number gain Polyhydramnios [RCV001291974] Chr17:34437475..36243028 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34807069-36284994)x1 copy number loss Chromosome 17q12 deletion syndrome [RCV001801177] Chr17:34807069..36284994 [GRCh37]
Chr17:17q12		 likely pathogenic
GRCh38/hg38 17q12(chr17:36719878-37889304) copy number loss Diaphragmatic eventration [RCV001823057] Chr17:36719878..37889304 [GRCh38]
Chr17:17q12		 uncertain significance
NC_000017.10:g.(?_34892951)_(36104875_?)del deletion Hyperphosphatasia with intellectual disability syndrome 5 [RCV001925612]|not provided [RCV001943312] Chr17:34892951..36104875 [GRCh37]
Chr17:17q12		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000017.10:g.(?_34892951)_(36104875_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 5 [RCV003122289]|not provided [RCV003111263] Chr17:34892951..36104875 [GRCh37]
Chr17:17q12		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 17q12(chr17:34463923-36410559) copy number loss Chromosome 17q12 deletion syndrome [RCV002280707] Chr17:34463923..36410559 [GRCh37]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34822465-36243781)x1 copy number loss See cases [RCV002287562] Chr17:34822465..36243781 [GRCh37]
Chr17:17q12		 pathogenic
NM_012138.4(AATF):c.20T>C (p.Leu7Pro) single nucleotide variant Inborn genetic diseases [RCV003279391] Chr17:36949145 [GRCh38]
Chr17:35306445 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1421G>A (p.Arg474Gln) single nucleotide variant Inborn genetic diseases [RCV003299300] Chr17:37019027 [GRCh38]
Chr17:35376326 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss not provided [RCV002474493] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12		 pathogenic
NM_012138.4(AATF):c.361G>A (p.Asp121Asn) single nucleotide variant Inborn genetic diseases [RCV002968914] Chr17:36952963 [GRCh38]
Chr17:35310263 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34425363-36404555)x3 copy number gain not provided [RCV002472574] Chr17:34425363..36404555 [GRCh37]
Chr17:17q12		 pathogenic
NM_012138.4(AATF):c.71C>T (p.Pro24Leu) single nucleotide variant Inborn genetic diseases [RCV002731954] Chr17:36949196 [GRCh38]
Chr17:35306496 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.524A>G (p.Asp175Gly) single nucleotide variant Inborn genetic diseases [RCV002970349] Chr17:36953126 [GRCh38]
Chr17:35310426 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1001G>A (p.Arg334Gln) single nucleotide variant Inborn genetic diseases [RCV002684506] Chr17:36988572 [GRCh38]
Chr17:35345871 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1117A>G (p.Lys373Glu) single nucleotide variant Inborn genetic diseases [RCV002970058] Chr17:36988688 [GRCh38]
Chr17:35345987 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.332G>A (p.Gly111Glu) single nucleotide variant Inborn genetic diseases [RCV002772847] Chr17:36952934 [GRCh38]
Chr17:35310234 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.740C>T (p.Ala247Val) single nucleotide variant Inborn genetic diseases [RCV002798317] Chr17:36953815 [GRCh38]
Chr17:35311115 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.617A>G (p.Asp206Gly) single nucleotide variant Inborn genetic diseases [RCV002844917] Chr17:36953219 [GRCh38]
Chr17:35310519 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.985G>A (p.Glu329Lys) single nucleotide variant Inborn genetic diseases [RCV002949988] Chr17:36988556 [GRCh38]
Chr17:35345855 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1126C>G (p.Leu376Val) single nucleotide variant Inborn genetic diseases [RCV002888538] Chr17:36988697 [GRCh38]
Chr17:35345996 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.526G>A (p.Glu176Lys) single nucleotide variant Inborn genetic diseases [RCV002696915] Chr17:36953128 [GRCh38]
Chr17:35310428 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1063C>T (p.Arg355Cys) single nucleotide variant Inborn genetic diseases [RCV002803847] Chr17:36988634 [GRCh38]
Chr17:35345933 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1346A>G (p.His449Arg) single nucleotide variant Inborn genetic diseases [RCV002827209] Chr17:36990805 [GRCh38]
Chr17:35348104 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1625A>G (p.Glu542Gly) single nucleotide variant Inborn genetic diseases [RCV002892653] Chr17:37056606 [GRCh38]
Chr17:35413906 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1580T>C (p.Met527Thr) single nucleotide variant Inborn genetic diseases [RCV002936055] Chr17:37031646 [GRCh38]
Chr17:35388943 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.356A>T (p.Glu119Val) single nucleotide variant Inborn genetic diseases [RCV002792755] Chr17:36952958 [GRCh38]
Chr17:35310258 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.5C>G (p.Ala2Gly) single nucleotide variant Inborn genetic diseases [RCV002748461] Chr17:36949130 [GRCh38]
Chr17:35306430 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.44T>G (p.Leu15Trp) single nucleotide variant Inborn genetic diseases [RCV002855185] Chr17:36949169 [GRCh38]
Chr17:35306469 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1235C>G (p.Thr412Ser) single nucleotide variant Inborn genetic diseases [RCV002961485] Chr17:36989332 [GRCh38]
Chr17:35346631 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1666G>C (p.Glu556Gln) single nucleotide variant Inborn genetic diseases [RCV002668863] Chr17:37056647 [GRCh38]
Chr17:35413947 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.61G>C (p.Glu21Gln) single nucleotide variant Inborn genetic diseases [RCV002944409] Chr17:36949186 [GRCh38]
Chr17:35306486 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.533G>A (p.Ser178Asn) single nucleotide variant Inborn genetic diseases [RCV002724502] Chr17:36953135 [GRCh38]
Chr17:35310435 [GRCh37]
Chr17:17q12		 uncertain significance
Single allele deletion See cases [RCV003154619] Chr17:34842542..36104877 [GRCh37]
Chr17:17q12		 likely pathogenic
NM_012138.4(AATF):c.1088G>C (p.Arg363Thr) single nucleotide variant Inborn genetic diseases [RCV003213107] Chr17:36988659 [GRCh38]
Chr17:35345958 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.264G>C (p.Gln88His) single nucleotide variant Inborn genetic diseases [RCV003220809] Chr17:36950386 [GRCh38]
Chr17:35307686 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1009G>A (p.Val337Ile) single nucleotide variant Inborn genetic diseases [RCV003217829] Chr17:36988580 [GRCh38]
Chr17:35345879 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh38/hg38 17q12(chr17:36138501-37924067) copy number gain Anomalous pulmonary venous return [RCV003223580] Chr17:36138501..37924067 [GRCh38]
Chr17:17q12		 pathogenic
NM_012138.4(AATF):c.1306G>A (p.Gly436Arg) single nucleotide variant Inborn genetic diseases [RCV003216932] Chr17:36989403 [GRCh38]
Chr17:35346702 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12		 pathogenic
GRCh38/hg38 17q12(chr17:36486532-37745203)x1 copy number loss Chromosome 17q12 deletion syndrome [RCV003327643] Chr17:36486532..37745203 [GRCh38]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:34752221-36105007)x3 copy number gain Chromosome 17q12 deletion syndrome [RCV003329520] Chr17:34752221..36105007 [GRCh37]
Chr17:17q12		 pathogenic
NM_012138.4(AATF):c.1039G>A (p.Asp347Asn) single nucleotide variant Inborn genetic diseases [RCV003340423] Chr17:36988610 [GRCh38]
Chr17:35345909 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.150C>G (p.Phe50Leu) single nucleotide variant Inborn genetic diseases [RCV003374984] Chr17:36950272 [GRCh38]
Chr17:35307572 [GRCh37]
Chr17:17q12		 uncertain significance
NM_012138.4(AATF):c.1253G>A (p.Arg418Gln) single nucleotide variant Inborn genetic diseases [RCV003354738] Chr17:36989350 [GRCh38]
Chr17:35346649 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34440083-36410559)x3 copy number gain not provided [RCV003485154] Chr17:34440083..36410559 [GRCh37]
Chr17:17q12		 pathogenic
Single allele deletion not provided [RCV003448665] Chr17:34814816..36249107 [GRCh37]
Chr17:17q12		 pathogenic
GRCh38/hg38 17q12(chr17:36466109-37946106) copy number loss Autism spectrum disorder [RCV003883418] Chr17:36466109..37946106 [GRCh38]
Chr17:17q12		 pathogenic
GRCh37/hg19 17q12(chr17:35010975-35932571)x3 copy number gain not specified [RCV003987237] Chr17:35010975..35932571 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:34425362-36371146)x3 copy number gain not specified [RCV003987227] Chr17:34425362..36371146 [GRCh37]
Chr17:17q12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1483
Count of miRNA genes:514
Interacting mature miRNAs:557
Transcripts:ENST00000225402, ENST00000586981, ENST00000587618, ENST00000588486, ENST00000589579, ENST00000590321, ENST00000592219, ENST00000592751, ENST00000593084
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
D17S1867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,379,394 - 35,379,489UniSTSGRCh37
Build 361732,453,507 - 32,453,602RGDNCBI36
Celera1732,201,523 - 32,201,618RGD
Cytogenetic Map17q12UniSTS
HuRef1731,315,098 - 31,315,201UniSTS
Marshfield Genetic Map1759.32RGD
Marshfield Genetic Map1759.32UniSTS
Genethon Genetic Map1759.9UniSTS
TNG Radiation Hybrid Map1716401.0UniSTS
deCODE Assembly Map1765.29UniSTS
D17S581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,379,366 - 35,379,525UniSTSGRCh37
Build 361732,453,479 - 32,453,638RGDNCBI36
Celera1732,201,495 - 32,201,654RGD
Cytogenetic Map17q12UniSTS
HuRef1731,315,070 - 31,315,237UniSTS
A007I45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,413,878 - 35,414,044UniSTSGRCh37
Build 361732,487,991 - 32,488,157RGDNCBI36
Celera1732,235,973 - 32,236,139RGD
Cytogenetic Map17q12UniSTS
HuRef1731,349,439 - 31,349,605UniSTS
GeneMap99-GB4 RH Map17302.47UniSTS
NCBI RH Map17425.8UniSTS
G09336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,371,293 - 35,371,685UniSTSGRCh37
Build 361732,445,406 - 32,445,798RGDNCBI36
Celera1732,193,422 - 32,193,814RGD
Cytogenetic Map17q12UniSTS
HuRef1731,307,191 - 31,307,583UniSTS
WI-11337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,414,028 - 35,414,156UniSTSGRCh37
Build 361732,488,141 - 32,488,269RGDNCBI36
Celera1732,236,123 - 32,236,251RGD
Cytogenetic Map17q12UniSTS
HuRef1731,349,589 - 31,349,717UniSTS
GeneMap99-GB4 RH Map17298.76UniSTS
Whitehead-RH Map17324.9UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2343 2697 1354 311 1730 153 4183 1865 3317 162 1260 1463 171 1204 2653 4
Low 8 287 130 122 45 122 135 328 347 20 135
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001411094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ249940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000610798   ⟹   ENSP00000480472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,988,658 - 37,021,154 (+)Ensembl
RefSeq Acc Id: ENST00000613840   ⟹   ENSP00000479926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,949,019 - 36,988,692 (+)Ensembl
RefSeq Acc Id: ENST00000615319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,054,827 - 37,056,870 (+)Ensembl
RefSeq Acc Id: ENST00000616062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,054,465 - 37,056,858 (+)Ensembl
RefSeq Acc Id: ENST00000616392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,018,951 - 37,056,871 (+)Ensembl
RefSeq Acc Id: ENST00000616434   ⟹   ENSP00000477881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,858 (+)Ensembl
RefSeq Acc Id: ENST00000617141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,031,365 - 37,056,865 (+)Ensembl
RefSeq Acc Id: ENST00000619387   ⟹   ENSP00000477848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,954 - 37,056,871 (+)Ensembl
RefSeq Acc Id: ENST00000622432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1737,051,135 - 37,056,869 (+)Ensembl
RefSeq Acc Id: ENST00000679508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 36,996,972 (+)Ensembl
RefSeq Acc Id: ENST00000679600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,951,831 - 37,056,858 (+)Ensembl
RefSeq Acc Id: ENST00000679881   ⟹   ENSP00000504972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,949,290 - 37,056,860 (+)Ensembl
RefSeq Acc Id: ENST00000679985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,019,064 (+)Ensembl
RefSeq Acc Id: ENST00000679997   ⟹   ENSP00000505070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,949,008 - 37,056,871 (+)Ensembl
RefSeq Acc Id: ENST00000680330   ⟹   ENSP00000506539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,842 (+)Ensembl
RefSeq Acc Id: ENST00000680340   ⟹   ENSP00000506264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,870 (+)Ensembl
RefSeq Acc Id: ENST00000680356   ⟹   ENSP00000505146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,860 (+)Ensembl
RefSeq Acc Id: ENST00000680579   ⟹   ENSP00000506655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,858 (+)Ensembl
RefSeq Acc Id: ENST00000680782   ⟹   ENSP00000506681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,949,301 - 37,056,860 (+)Ensembl
RefSeq Acc Id: ENST00000680807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,021,455 (+)Ensembl
RefSeq Acc Id: ENST00000681062   ⟹   ENSP00000506608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,949,285 - 37,056,860 (+)Ensembl
RefSeq Acc Id: ENST00000681070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,967 - 36,951,353 (+)Ensembl
RefSeq Acc Id: ENST00000681800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1736,948,925 - 37,056,852 (+)Ensembl
RefSeq Acc Id: NM_001411094   ⟹   NP_001398023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381736,948,954 - 37,056,871 (+)NCBI
T2T-CHM13v2.01737,936,011 - 38,043,848 (+)NCBI
RefSeq Acc Id: NM_012138   ⟹   NP_036270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381736,948,954 - 37,056,871 (+)NCBI
GRCh371735,306,175 - 35,414,171 (+)ENTREZGENE
Build 361732,380,288 - 32,488,284 (+)NCBI Archive
HuRef1731,242,118 - 31,349,732 (+)ENTREZGENE
CHM1_11735,340,438 - 35,448,434 (+)NCBI
T2T-CHM13v2.01737,936,011 - 38,043,848 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435748   ⟹   XP_047291704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381736,948,954 - 36,988,668 (+)NCBI
RefSeq Acc Id: XM_054315718   ⟹   XP_054171693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01737,936,011 - 37,975,690 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036270   ⟸   NM_012138
- Peptide Label: isoform 1
- UniProtKB: Q9P0A4 (UniProtKB/Swiss-Prot),   B3KQ26 (UniProtKB/Swiss-Prot),   A6NCJ6 (UniProtKB/Swiss-Prot),   Q9UNX5 (UniProtKB/Swiss-Prot),   Q9NY61 (UniProtKB/Swiss-Prot),   A0A7P0T868 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480472   ⟸   ENST00000610798
RefSeq Acc Id: ENSP00000479926   ⟸   ENST00000613840
RefSeq Acc Id: ENSP00000477881   ⟸   ENST00000616434
RefSeq Acc Id: ENSP00000477848   ⟸   ENST00000619387
RefSeq Acc Id: ENSP00000504972   ⟸   ENST00000679881
RefSeq Acc Id: ENSP00000505070   ⟸   ENST00000679997
RefSeq Acc Id: ENSP00000506681   ⟸   ENST00000680782
RefSeq Acc Id: ENSP00000506264   ⟸   ENST00000680340
RefSeq Acc Id: ENSP00000506608   ⟸   ENST00000681062
RefSeq Acc Id: ENSP00000506539   ⟸   ENST00000680330
RefSeq Acc Id: ENSP00000506655   ⟸   ENST00000680579
RefSeq Acc Id: ENSP00000505146   ⟸   ENST00000680356
RefSeq Acc Id: XP_047291704   ⟸   XM_047435748
- Peptide Label: isoform X1
- UniProtKB: A0A7P0TBG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001398023   ⟸   NM_001411094
- Peptide Label: isoform 2
- UniProtKB: A0A7P0TAR0 (UniProtKB/TrEMBL),   A0A7P0T868 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054171693   ⟸   XM_054315718
- Peptide Label: isoform X1
- UniProtKB: A0A7P0TBG4 (UniProtKB/TrEMBL)
Protein Domains
AATF leucine zipper-containing   Apoptosis-antagonizing transcription factor C-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY61-F1-model_v2 AlphaFold Q9NY61 1-560 view protein structure

Promoters
RGD ID:6793932
Promoter ID:HG_KWN:25873
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:NM_012138,   UC002HNJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361732,380,011 - 32,380,562 (+)MPROMDB
RGD ID:6852418
Promoter ID:EP74018
Type:initiation region
Name:HS_AATF
Description:Apoptosis antagonizing transcription factor.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361732,380,399 - 32,380,459EPD
RGD ID:7234737
Promoter ID:EPDNEW_H23115
Type:initiation region
Name:AATF_1
Description:apoptosis antagonizing transcription factor
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
GRCh381736,948,956 - 36,949,016EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19235 AgrOrtholog
COSMIC AATF COSMIC
Ensembl Genes ENSG00000275700 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000610798.4 UniProtKB/TrEMBL
  ENST00000613840.1 UniProtKB/TrEMBL
  ENST00000616434.2 UniProtKB/TrEMBL
  ENST00000619387 ENTREZGENE
  ENST00000619387.5 UniProtKB/Swiss-Prot
  ENST00000620004.2 UniProtKB/Swiss-Prot
  ENST00000632039.1 UniProtKB/TrEMBL
  ENST00000632435.1 UniProtKB/TrEMBL
  ENST00000633401.1 UniProtKB/TrEMBL
  ENST00000679881.1 UniProtKB/TrEMBL
  ENST00000679997.1 UniProtKB/TrEMBL
  ENST00000680330.1 UniProtKB/TrEMBL
  ENST00000680340 ENTREZGENE
  ENST00000680340.1 UniProtKB/TrEMBL
  ENST00000680356.1 UniProtKB/TrEMBL
  ENST00000680579 ENTREZGENE
  ENST00000680579.1 UniProtKB/TrEMBL
  ENST00000680782.1 UniProtKB/TrEMBL
  ENST00000681062.1 UniProtKB/TrEMBL
GTEx ENSG00000275700 GTEx
  ENSG00000276072 GTEx
HGNC ID HGNC:19235 ENTREZGENE
Human Proteome Map AATF Human Proteome Map
InterPro AATF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AATF/Bfr2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AATF_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26574 UniProtKB/Swiss-Prot
NCBI Gene 26574 ENTREZGENE
OMIM 608463 OMIM
PANTHER PROTEIN AATF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AATF-Che1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128395780 PharmGKB
UniProt A0A087WTH8_HUMAN UniProtKB/TrEMBL
  A0A087WW41_HUMAN UniProtKB/TrEMBL
  A0A087WWS8_HUMAN UniProtKB/TrEMBL
  A0A0J9YWE9_HUMAN UniProtKB/TrEMBL
  A0A7P0T868 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TAR0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TBG4 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TBI0_HUMAN UniProtKB/TrEMBL
  A0A7P0Z434_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4N2_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4P2_HUMAN UniProtKB/TrEMBL
  A6NCJ6 ENTREZGENE
  AATF_HUMAN UniProtKB/Swiss-Prot
  B3KQ26 ENTREZGENE
  Q9NY61 ENTREZGENE
  Q9P0A4 ENTREZGENE
  Q9UNX5 ENTREZGENE
UniProt Secondary A6NCJ6 UniProtKB/Swiss-Prot
  B3KQ26 UniProtKB/Swiss-Prot
  Q9P0A4 UniProtKB/Swiss-Prot
  Q9UNX5 UniProtKB/Swiss-Prot