PAX9 (paired box 9) - Rat Genome Database

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Gene: PAX9 (paired box 9) Homo sapiens
Analyze
Symbol: PAX9
Name: paired box 9
RGD ID: 1352334
HGNC Page HGNC:8623
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm. Implicated in tooth agenesis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: paired box protein Pax-9; paired domain gene 9; STHAG3
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
GRCh381436,657,568 - 36,679,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1436,657,568 - 36,679,362 (+)Ensemblhg38GRCh38
GRCh371437,126,773 - 37,148,567 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361436,196,533 - 36,216,763 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341436,200,655 - 36,215,621NCBI
Celera1416,990,297 - 17,010,560 (+)NCBICelera
Cytogenetic Map14q13.3NCBI
HuRef1417,241,127 - 17,261,385 (+)NCBIHuRef
CHM1_11437,125,895 - 37,146,158 (+)NCBICHM1_1
T2T-CHM13v2.01430,846,888 - 30,868,704 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Sasaki Y, etal., Arch Oral Biol. 2007 Mar;52(3):260-7. Epub 2006 Nov 13.
Additional References at PubMed
PMID:7981748   PMID:9021154   PMID:10615120   PMID:10899593   PMID:11374781   PMID:11781684   PMID:11941488   PMID:12107448   PMID:12115874   PMID:12477932   PMID:12490878   PMID:12657635  
PMID:12786960   PMID:12833407   PMID:14571272   PMID:14607846   PMID:14689302   PMID:15489334   PMID:15615874   PMID:16086281   PMID:16137495   PMID:16191360   PMID:16247549   PMID:16333316  
PMID:16344560   PMID:16479262   PMID:16651263   PMID:17373667   PMID:17412341   PMID:17697174   PMID:17910065   PMID:17973255   PMID:18028048   PMID:18029348   PMID:18353002   PMID:18445003  
PMID:18519826   PMID:18653171   PMID:18701815   PMID:18978678   PMID:19142206   PMID:19274049   PMID:19279207   PMID:19429910   PMID:19453261   PMID:19641755   PMID:19816326   PMID:20211142  
PMID:20485064   PMID:20544801   PMID:20602873   PMID:20618716   PMID:20634891   PMID:20660504   PMID:20941745   PMID:21098475   PMID:21111400   PMID:21298044   PMID:21434731   PMID:21443745  
PMID:21530942   PMID:21626677   PMID:21873635   PMID:22058014   PMID:22185249   PMID:22277187   PMID:22446453   PMID:22747565   PMID:22810112   PMID:22976623   PMID:23227268   PMID:23535729  
PMID:23718693   PMID:23857653   PMID:23921572   PMID:24028587   PMID:24160254   PMID:24222224   PMID:24316698   PMID:24436340   PMID:24554542   PMID:24697712   PMID:24999758   PMID:25501211  
PMID:25683653   PMID:26333297   PMID:26571067   PMID:26707046   PMID:28040065   PMID:28155232   PMID:28473536   PMID:28560390   PMID:28572861   PMID:28847717   PMID:28910570   PMID:29055049  
PMID:30809714   PMID:31056064   PMID:31069070   PMID:31609978   PMID:31781599   PMID:32296183   PMID:32679372   PMID:32813698   PMID:33078491   PMID:33197803   PMID:33961781   PMID:34341073  
PMID:34684112   PMID:34931758   PMID:35140242   PMID:35182440   PMID:35273362   PMID:35596231   PMID:35897718   PMID:36168627   PMID:36374296   PMID:36702222   PMID:36995881   PMID:37005710  
PMID:37184613   PMID:38140866   PMID:39617063  


Genomics

Comparative Map Data
PAX9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381436,657,568 - 36,679,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1436,657,568 - 36,679,362 (+)Ensemblhg38GRCh38
GRCh371437,126,773 - 37,148,567 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361436,196,533 - 36,216,763 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341436,200,655 - 36,215,621NCBI
Celera1416,990,297 - 17,010,560 (+)NCBICelera
Cytogenetic Map14q13.3NCBI
HuRef1417,241,127 - 17,261,385 (+)NCBIHuRef
CHM1_11437,125,895 - 37,146,158 (+)NCBICHM1_1
T2T-CHM13v2.01430,846,888 - 30,868,704 (+)NCBIT2T-CHM13v2.0
Pax9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391256,738,478 - 56,759,609 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1256,738,552 - 56,759,607 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381256,691,693 - 56,712,824 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1256,691,767 - 56,712,822 (+)Ensemblmm10GRCm38
MGSCv371257,796,626 - 57,812,217 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361257,613,651 - 57,629,242 (+)NCBIMGSCv36mm8
Celera1257,861,482 - 57,877,076 (+)NCBICelera
Cytogenetic Map12C1NCBI
cM Map1224.53NCBI
Pax9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8679,917,466 - 79,938,551 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl679,921,801 - 79,938,549 (+)EnsemblGRCr8
mRatBN7.2674,186,749 - 74,203,508 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl674,182,568 - 74,203,506 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx674,600,161 - 74,616,896 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0674,899,473 - 74,916,209 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0674,326,950 - 74,343,674 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0677,607,705 - 77,624,453 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl677,608,624 - 77,621,719 (+)Ensemblrn6Rnor6.0
Rnor_5.0687,133,943 - 87,150,691 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4677,107,768 - 77,124,520 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera672,993,727 - 73,010,469 (+)NCBICelera
Cytogenetic Map6q23NCBI
Pax9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540924,424,343 - 24,444,040 (-)Ensembl
ChiLan1.0NW_00495540924,401,599 - 24,443,687 (-)NCBIChiLan1.0ChiLan1.0
PAX9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21537,873,397 - 37,993,055 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11437,090,066 - 37,207,404 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01417,114,975 - 17,431,786 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11435,771,454 - 35,791,697 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1435,771,454 - 35,791,697 (+)EnsemblpanPan2panpan1.1
PAX9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1815,221,852 - 15,239,629 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl815,221,730 - 15,239,099 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha815,017,315 - 15,039,336 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0815,329,659 - 15,351,686 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl815,329,498 - 15,348,689 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1815,027,510 - 15,049,518 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0815,094,578 - 15,116,598 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0815,384,554 - 15,406,581 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pax9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864047,148,014 - 47,167,288 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649410,658,077 - 10,672,251 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493649410,657,902 - 10,673,176 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAX9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl763,324,711 - 63,346,310 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1763,324,709 - 63,346,326 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2768,235,727 - 68,254,634 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PAX9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12413,454,839 - 13,470,564 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2413,455,589 - 13,473,505 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660532,454,784 - 2,471,998 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pax9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624838133,476 - 149,636 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624838129,725 - 147,572 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in PAX9
186 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del deletion Benign hereditary chorea [RCV000009535] Chr14:36463186..37638963 [GRCh37]
Chr14:14q13		 pathogenic
NM_001372076.1(PAX9):c.218dup (p.Ser74fs) duplication Tooth agenesis, selective, 3 [RCV000014777] Chr14:36663105..36663106 [GRCh38]
Chr14:37132310..37132311 [GRCh37]
Chr14:14q13.3		 pathogenic
NC_000014.9:g.(36613381_36657568)_(36679362_?)del deletion Tooth agenesis, selective, 3 [RCV000014779] Chr14:36657568..36679362 [GRCh38]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT (p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer) indel Tooth agenesis, selective, 3 [RCV000014782] Chr14:36663068..36663074 [GRCh38]
Chr14:37132273..37132279 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.792_793insC (p.Val265fs) insertion Tooth agenesis, selective, 3 [RCV000014786] Chr14:36676218..36676219 [GRCh38]
Chr14:37145423..37145424 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.1A>G (p.Met1Val) single nucleotide variant Tooth agenesis, selective, 3 [RCV000014787] Chr14:36662090 [GRCh38]
Chr14:37131295 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.619_621delinsTACCGACCAAGGTAGGGCATCCCT (p.Ile207delinsTyrArgProArgTer) indel Tooth agenesis, selective, 3 [RCV000014788] Chr14:36663511..36663513 [GRCh38]
Chr14:37132716..37132718 [GRCh37]
Chr14:14q13.3		 pathogenic
PAX9, 1-BP INS, 190G insertion Tooth agenesis, selective, 3 [RCV000014790] Chr14:14q12-q13 pathogenic
NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln) single nucleotide variant Tooth agenesis, selective, 3 [RCV001290409] Chr14:36663122 [GRCh38]
Chr14:37132327 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser) single nucleotide variant Hypodontia [RCV003591633]|Tooth agenesis, selective, 3 [RCV000014789] Chr14:36663043 [GRCh38]
Chr14:37132248 [GRCh37]
Chr14:14q13.3		 pathogenic|uncertain significance
NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp) single nucleotide variant Tooth agenesis, selective, 3 [RCV000014791] Chr14:36663031 [GRCh38]
Chr14:37132236 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter) single nucleotide variant Tooth agenesis, selective, 3 [RCV000014778] Chr14:36663232 [GRCh38]
Chr14:37132437 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) single nucleotide variant Hypodontia [RCV000530457]|PAX9-related disorder [RCV003934833]|Tooth agenesis, selective, 3 [RCV000014780]|not provided [RCV002054439] Chr14:36663163 [GRCh38]
Chr14:37132368 [GRCh37]
Chr14:14q13.3		 pathogenic|likely pathogenic|uncertain significance
NM_001372076.1(PAX9):c.62T>C (p.Leu21Pro) single nucleotide variant Tooth agenesis, selective, 3 [RCV000014781] Chr14:36662954 [GRCh38]
Chr14:37132159 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.83G>C (p.Arg28Pro) single nucleotide variant Tooth agenesis, selective, 3 [RCV000014783] Chr14:36662975 [GRCh38]
Chr14:37132180 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.76C>T (p.Arg26Trp) single nucleotide variant Hypodontia [RCV003591632]|Tooth agenesis, selective, 3 [RCV000014784] Chr14:36662968 [GRCh38]
Chr14:37132173 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe) single nucleotide variant Hypodontia [RCV000704798]|Tooth agenesis, selective, 3 [RCV000014785] Chr14:36663151 [GRCh38]
Chr14:37132356 [GRCh37]
Chr14:14q13.3		 pathogenic|uncertain significance
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q13.1-13.3(chr14:34450934-36880151)x1 copy number loss See cases [RCV000051492] Chr14:34450934..36880151 [GRCh38]
Chr14:34920140..37349356 [GRCh37]
Chr14:33989891..36419107 [NCBI36]
Chr14:14q13.1-13.3		 pathogenic
GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1 copy number loss See cases [RCV000051515] Chr14:36434568..41102476 [GRCh38]
Chr14:36903773..41571681 [GRCh37]
Chr14:35973524..40641431 [NCBI36]
Chr14:14q13.3-21.1		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp) single nucleotide variant Tooth agenesis, selective, 3 [RCV000144943] Chr14:36663228 [GRCh38]
Chr14:37132433 [GRCh37]
Chr14:14q13.3		 pathogenic|not provided
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1		 pathogenic
GRCh38/hg38 14q13.3(chr14:36662199-36671907)x3 copy number gain See cases [RCV000134937] Chr14:36662199..36671907 [GRCh38]
Chr14:37131404..37141112 [GRCh37]
Chr14:36201155..36210863 [NCBI36]
Chr14:14q13.3		 likely benign
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1 copy number loss See cases [RCV000136735] Chr14:35514078..36814016 [GRCh38]
Chr14:35983284..37283221 [GRCh37]
Chr14:35053035..36352972 [NCBI36]
Chr14:14q13.2-13.3		 pathogenic
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 copy number loss See cases [RCV000137841] Chr14:35068276..43994777 [GRCh38]
Chr14:35537482..44463980 [GRCh37]
Chr14:34607233..43533730 [NCBI36]
Chr14:14q13.2-21.2		 pathogenic
GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1 copy number loss See cases [RCV000139965] Chr14:36533448..37341419 [GRCh38]
Chr14:37002653..37810624 [GRCh37]
Chr14:36072404..36880375 [NCBI36]
Chr14:14q13.3		 pathogenic
GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3 copy number gain See cases [RCV000139761] Chr14:36484306..36677450 [GRCh38]
Chr14:36953511..37146655 [GRCh37]
Chr14:36023262..36216406 [NCBI36]
Chr14:14q13.3		 likely benign
GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3 copy number gain See cases [RCV000142424] Chr14:36191711..37228500 [GRCh38]
Chr14:36660917..37697705 [GRCh37]
Chr14:35730668..36767456 [NCBI36]
Chr14:14q13.3		 pathogenic
GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1 copy number loss See cases [RCV000142211] Chr14:33880412..42359485 [GRCh38]
Chr14:34349618..42828688 [GRCh37]
Chr14:33419369..41898438 [NCBI36]
Chr14:14q13.1-21.1		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4 copy number gain Breast ductal adenocarcinoma [RCV000207249] Chr14:37145530..38064142 [GRCh37]
Chr14:14q13.3-21.1		 uncertain significance
NM_001372076.1(PAX9):c.188C>G (p.Thr63Arg) single nucleotide variant Inborn genetic diseases [RCV000623787] Chr14:36663080 [GRCh38]
Chr14:37132285 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro) single nucleotide variant Hypodontia [RCV001513163]|Tooth agenesis, selective, 3 [RCV000600885]|not provided [RCV001668518]|not specified [RCV000247763] Chr14:36666548 [GRCh38]
Chr14:37135753 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.*344_*345del deletion Selective tooth agenesis [RCV000368895] Chr14:36676796..36676797 [GRCh38]
Chr14:37146001..37146002 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-218G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000269223] Chr14:36661872 [GRCh38]
Chr14:37131077 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.516G>A (p.Lys172=) single nucleotide variant Hypodontia [RCV000545209]|Tooth agenesis, selective, 3 [RCV000371605]|not provided [RCV002292520] Chr14:36663408 [GRCh38]
Chr14:37132613 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.*902G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000267347] Chr14:36677354 [GRCh38]
Chr14:37146559 [GRCh37]
Chr14:14q13.3		 likely benign|uncertain significance
NM_006194.4(PAX9):c.-455C>G single nucleotide variant Tooth agenesis, selective, 3 [RCV000304283]|not provided [RCV004714817] Chr14:36657839 [GRCh38]
Chr14:37127044 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.524C>T (p.Thr175Met) single nucleotide variant Hypodontia [RCV003754874]|Tooth agenesis, selective, 3 [RCV000286437] Chr14:36663416 [GRCh38]
Chr14:37132621 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.150C>T (p.His50=) single nucleotide variant Tooth agenesis, selective, 3 [RCV000375288] Chr14:36663042 [GRCh38]
Chr14:37132247 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-656C>G single nucleotide variant Tooth agenesis, selective, 3 [RCV000403117] Chr14:36657638 [GRCh38]
Chr14:37126843 [GRCh37]
Chr14:14q13.3		 likely benign|uncertain significance
NM_006194.4(PAX9):c.-488C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000403919] Chr14:36657806 [GRCh38]
Chr14:37127011 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*429T>C single nucleotide variant Tooth agenesis, selective, 3 [RCV000274370]|not provided [RCV004715847] Chr14:36676881 [GRCh38]
Chr14:37146086 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_006194.4(PAX9):c.-719C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000337951] Chr14:36657575 [GRCh38]
Chr14:37126780 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*554G>C single nucleotide variant Tooth agenesis, selective, 3 [RCV000260980]|not provided [RCV004714818] Chr14:36677006 [GRCh38]
Chr14:37146211 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_006194.4(PAX9):c.-626dup duplication Selective tooth agenesis [RCV000279592] Chr14:36657666..36657667 [GRCh38]
Chr14:37126871..37126872 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.*511T>C single nucleotide variant Tooth agenesis, selective, 3 [RCV000320126] Chr14:36676963 [GRCh38]
Chr14:37146168 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.289A>C (p.Ile97Leu) single nucleotide variant Tooth agenesis, selective, 3 [RCV000280795] Chr14:36663181 [GRCh38]
Chr14:37132386 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.1020G>A (p.Ala340=) single nucleotide variant Tooth agenesis, selective, 3 [RCV000347293] Chr14:36676446 [GRCh38]
Chr14:37145651 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*263A>G single nucleotide variant Tooth agenesis, selective, 3 [RCV000396973] Chr14:36676715 [GRCh38]
Chr14:37145920 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*231T>G single nucleotide variant Tooth agenesis, selective, 3 [RCV000307604] Chr14:36676683 [GRCh38]
Chr14:37145888 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.6G>A (p.Glu2=) single nucleotide variant Tooth agenesis, selective, 3 [RCV000329964] Chr14:36662898 [GRCh38]
Chr14:37132103 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-65G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000274984] Chr14:36662025 [GRCh38]
Chr14:37131230 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*206T>C single nucleotide variant Tooth agenesis, selective, 3 [RCV000402926]|not provided [RCV001598651] Chr14:36676658 [GRCh38]
Chr14:37145863 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_006194.4(PAX9):c.-321C>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000310276] Chr14:36661769 [GRCh38]
Chr14:37130974 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*901C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000380621] Chr14:36677353 [GRCh38]
Chr14:37146558 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_006194.4(PAX9):c.-553C>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000334673] Chr14:36657741 [GRCh38]
Chr14:37126946 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.717C>T (p.His239=) single nucleotide variant Hypodontia [RCV001521380]|Tooth agenesis, selective, 3 [RCV000611289]|not provided [RCV001723896] Chr14:36666547 [GRCh38]
Chr14:37135752 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.*818C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000316735]|not provided [RCV004714819] Chr14:36677270 [GRCh38]
Chr14:37146475 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.511G>A (p.Ala171Thr) single nucleotide variant Hypodontia [RCV000871665]|Tooth agenesis, selective, 3 [RCV000317164] Chr14:36663403 [GRCh38]
Chr14:37132608 [GRCh37]
Chr14:14q13.3		 likely benign|uncertain significance
NM_001372076.1(PAX9):c.*259C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000363043]|not provided [RCV001642972] Chr14:36676711 [GRCh38]
Chr14:37145916 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.623C>G (p.Thr208Ser) single nucleotide variant Hypodontia [RCV000533935]|Tooth agenesis, selective, 3 [RCV000341475]|not provided [RCV004705289] Chr14:36663515 [GRCh38]
Chr14:37132720 [GRCh37]
Chr14:14q13.3		 benign|likely benign
NM_001372076.1(PAX9):c.*328T>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000314250] Chr14:36676780 [GRCh38]
Chr14:37145985 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-244G>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000364983] Chr14:36661846 [GRCh38]
Chr14:37131051 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-186C>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000333609] Chr14:36661904 [GRCh38]
Chr14:37131109 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-119A>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000369583] Chr14:36661971 [GRCh38]
Chr14:37131176 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*1051T>G single nucleotide variant Selective tooth agenesis [RCV000322470] Chr14:36677503 [GRCh38]
Chr14:37146708 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*518_*521del deletion Selective tooth agenesis [RCV000356261] Chr14:36676967..36676970 [GRCh38]
Chr14:37146172..37146175 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-394+15G>C single nucleotide variant Tooth agenesis, selective, 3 [RCV000359158] Chr14:36657915 [GRCh38]
Chr14:37127120 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.217G>T (p.Gly73Cys) single nucleotide variant Inborn genetic diseases [RCV000622623] Chr14:36663109 [GRCh38]
Chr14:37132314 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-338C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV000397981] Chr14:36661752 [GRCh38]
Chr14:37130957 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.683T>C (p.Leu228Pro) single nucleotide variant Hypodontia [RCV000817715] Chr14:36666513 [GRCh38]
Chr14:37135718 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.325_331dup (p.Val111fs) duplication not provided [RCV000413232] Chr14:36663212..36663213 [GRCh38]
Chr14:37132417..37132418 [GRCh37]
Chr14:14q13.3		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)x1 copy number loss See cases [RCV000447612] Chr14:35850213..40138562 [GRCh37]
Chr14:14q13.2-21.1		 pathogenic
NM_001372076.1(PAX9):c.114_117dup (p.Cys40fs) duplication not provided [RCV000478656] Chr14:36663002..36663003 [GRCh38]
Chr14:37132207..37132208 [GRCh37]
Chr14:14q13.3		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NC_000014.9:g.36662092G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV000494847] Chr14:36662092 [GRCh38]
Chr14:37131297 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.609C>T (p.Gly203=) single nucleotide variant Hypodontia [RCV001517512]|PAX9-related disorder [RCV003925585]|Tooth agenesis, selective, 3 [RCV001109130]|not provided [RCV000560171] Chr14:36663501 [GRCh38]
Chr14:37132706 [GRCh37]
Chr14:14q13.3		 benign|likely benign|uncertain significance
NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu) single nucleotide variant Tooth agenesis, selective, 3 [RCV000656432] Chr14:36662951 [GRCh38]
Chr14:37132156 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs) duplication Inborn genetic diseases [RCV000623432] Chr14:36663354..36663355 [GRCh38]
Chr14:37132559..37132560 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter) single nucleotide variant Hypodontia [RCV000631386] Chr14:36663072 [GRCh38]
Chr14:37132277 [GRCh37]
Chr14:14q13.3		 pathogenic
GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1 copy number loss not provided [RCV000683624] Chr14:35934503..47120961 [GRCh37]
Chr14:14q13.2-21.2		 pathogenic
NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu) single nucleotide variant Hypodontia [RCV000694512]|not provided [RCV001555392] Chr14:36666519 [GRCh38]
Chr14:37135724 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001372076.1(PAX9):c.631+41G>A single nucleotide variant Hypodontia [RCV002054363]|not provided [RCV001689743] Chr14:36663564 [GRCh38]
Chr14:37132769 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.*775C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV001114875] Chr14:36677227 [GRCh38]
Chr14:37146432 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-393-738T>C single nucleotide variant not provided [RCV001643524] Chr14:36660959 [GRCh38]
Chr14:37130164 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.640A>G (p.Ser214Gly) single nucleotide variant Hypodontia [RCV001449246] Chr14:36666470 [GRCh38]
Chr14:37135675 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.679A>C (p.Ser227Arg) single nucleotide variant Hypodontia [RCV001441691]|Tooth agenesis, selective, 3 [RCV005004471] Chr14:36666509 [GRCh38]
Chr14:37135714 [GRCh37]
Chr14:14q13.3		 likely benign|uncertain significance
NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys) single nucleotide variant Tooth agenesis, selective, 3 [RCV000824856] Chr14:36662943 [GRCh38]
Chr14:37132148 [GRCh37]
Chr14:14q13.3		 likely pathogenic
GRCh37/hg19 14q13.3(chr14:36924877-37254779)x3 copy number gain not provided [RCV000846747] Chr14:36924877..37254779 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.2T>A (p.Met1Lys) single nucleotide variant Hypodontia [RCV000804216] Chr14:36662091 [GRCh38]
Chr14:37131296 [GRCh37]
Chr14:14q13.3		 pathogenic|likely pathogenic
NM_001372076.1(PAX9):c.*1066A>C single nucleotide variant Tooth agenesis, selective, 3 [RCV001114877] Chr14:36677518 [GRCh38]
Chr14:37146723 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu) single nucleotide variant Hypodontia [RCV000792474]|Inborn genetic diseases [RCV003166094] Chr14:36666527 [GRCh38]
Chr14:37135732 [GRCh37]
Chr14:14q13.3		 uncertain significance
Single allele deletion Tooth agenesis [RCV000787378] Chr14:37145358..37162210 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.323C>T (p.Ala108Val) single nucleotide variant Tooth agenesis, selective, 3 [RCV001114762] Chr14:36663215 [GRCh38]
Chr14:37132420 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q13.3(chr14:36923328-37254779)x3 copy number gain not provided [RCV000845872] Chr14:36923328..37254779 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.543dup (p.Ile182fs) duplication not provided [RCV001009017] Chr14:36663433..36663434 [GRCh38]
Chr14:37132638..37132639 [GRCh37]
Chr14:14q13.3		 pathogenic
GRCh37/hg19 14q13.3(chr14:37142553-37674856)x1 copy number loss not provided [RCV001006617] Chr14:37142553..37674856 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
NM_001372076.1(PAX9):c.192C>T (p.Gly64=) single nucleotide variant Hypodontia [RCV005093520]|PAX9-related disorder [RCV003963056]|Tooth agenesis, selective, 3 [RCV001114761] Chr14:36663084 [GRCh38]
Chr14:37132289 [GRCh37]
Chr14:14q13.3		 likely benign|uncertain significance
NM_001372076.1(PAX9):c.*640T>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001114873] Chr14:36677092 [GRCh38]
Chr14:37146297 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_006194.4(PAX9):c.-644G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV001111370] Chr14:36657650 [GRCh38]
Chr14:37126855 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*12G>T single nucleotide variant Tooth agenesis, selective, 3 [RCV001111469] Chr14:36676464 [GRCh38]
Chr14:37145669 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.*59C>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001111470] Chr14:36676511 [GRCh38]
Chr14:37145716 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.771+20G>T single nucleotide variant Hypodontia [RCV003107292] Chr14:36666621 [GRCh38]
Chr14:37135826 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.774A>T (p.Ala258=) single nucleotide variant Hypodontia [RCV000918697] Chr14:36676200 [GRCh38]
Chr14:37145405 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr) single nucleotide variant Hypodontia [RCV001222484] Chr14:36663238 [GRCh38]
Chr14:37132443 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*663C>T single nucleotide variant Tooth agenesis, selective, 3 [RCV001114874] Chr14:36677115 [GRCh38]
Chr14:37146320 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del) deletion Hypodontia [RCV001227915] Chr14:36662990..36663007 [GRCh38]
Chr14:37132195..37132212 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.5-41A>G single nucleotide variant not provided [RCV001719241] Chr14:36662856 [GRCh38]
Chr14:37132061 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.5-54A>G single nucleotide variant not provided [RCV001596694] Chr14:36662843 [GRCh38]
Chr14:37132048 [GRCh37]
Chr14:14q13.3		 benign
NM_006194.4(PAX9):c.-393-972C>G single nucleotide variant not provided [RCV001676654] Chr14:36660725 [GRCh38]
Chr14:37129930 [GRCh37]
Chr14:14q13.3		 benign
GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1 copy number loss not provided [RCV001006616] Chr14:36830396..42541277 [GRCh37]
Chr14:14q13.3-21.1		 pathogenic
NM_001372076.1(PAX9):c.5-82G>A single nucleotide variant not provided [RCV001617969] Chr14:36662815 [GRCh38]
Chr14:37132020 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.632-62G>C single nucleotide variant not provided [RCV001655201] Chr14:36666400 [GRCh38]
Chr14:37135605 [GRCh37]
Chr14:14q13.3		 benign
NM_006194.4(PAX9):c.-393-157C>T single nucleotide variant not provided [RCV001717916] Chr14:36661540 [GRCh38]
Chr14:37130745 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.750G>T (p.Glu250Asp) single nucleotide variant Inborn genetic diseases [RCV003346323]|Tooth agenesis, selective, 3 [RCV001111468]|not provided [RCV004693675] Chr14:36666580 [GRCh38]
Chr14:37135785 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*257G>A single nucleotide variant Tooth agenesis, selective, 3 [RCV001111471] Chr14:36676709 [GRCh38]
Chr14:37145914 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.600C>T (p.Asp200=) single nucleotide variant Tooth agenesis, selective, 3 [RCV001109129] Chr14:36663492 [GRCh38]
Chr14:37132697 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*506A>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001113476] Chr14:36676958 [GRCh38]
Chr14:37146163 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-175G>C single nucleotide variant Tooth agenesis, selective, 3 [RCV001113380] Chr14:36661915 [GRCh38]
Chr14:37131120 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.689G>A (p.Arg230His) single nucleotide variant Tooth agenesis, selective, 3 [RCV001109131] Chr14:36666519 [GRCh38]
Chr14:37135724 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.5-109G>C single nucleotide variant not provided [RCV001648118] Chr14:36662788 [GRCh38]
Chr14:37131993 [GRCh37]
Chr14:14q13.3		 benign
NM_006194.4(PAX9):c.-393-1028A>G single nucleotide variant not provided [RCV001692723] Chr14:36660669 [GRCh38]
Chr14:37129874 [GRCh37]
Chr14:14q13.3		 benign
NM_006194.4(PAX9):c.-393-909C>T single nucleotide variant not provided [RCV001649439] Chr14:36660788 [GRCh38]
Chr14:37129993 [GRCh37]
Chr14:14q13.3		 benign
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
NM_001372076.1(PAX9):c.*288C>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001113475] Chr14:36676740 [GRCh38]
Chr14:37145945 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.-67A>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001114760] Chr14:36662023 [GRCh38]
Chr14:37131228 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.*825T>G single nucleotide variant Tooth agenesis, selective, 3 [RCV001114876] Chr14:36677277 [GRCh38]
Chr14:37146482 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.930G>C (p.Leu310Phe) single nucleotide variant Hypodontia [RCV001064939] Chr14:36676356 [GRCh38]
Chr14:37145561 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q13.3(chr14:36969461-37264529)x1 copy number loss not provided [RCV001259659] Chr14:36969461..37264529 [GRCh37]
Chr14:14q13.3		 pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367) copy number loss Poor motor coordination [RCV001352634] Chr14:33608925..44570367 [GRCh37]
Chr14:14q13.1-21.2		 pathogenic
NM_001372076.1(PAX9):c.243del (p.Thr82fs) deletion Oligodontia [RCV001374731] Chr14:36663131 [GRCh38]
Chr14:37132336 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter) single nucleotide variant Hypodontia [RCV001382911] Chr14:36663343 [GRCh38]
Chr14:37132548 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.152G>T (p.Gly51Val) single nucleotide variant Oligodontia [RCV001449584] Chr14:36663044 [GRCh38]
Chr14:37132249 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter) single nucleotide variant Oligodontia [RCV001374732] Chr14:36663301 [GRCh38]
Chr14:37132506 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu) single nucleotide variant Hypodontia [RCV001340899] Chr14:36676385 [GRCh38]
Chr14:37145590 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.290T>A (p.Ile97Asn) single nucleotide variant Hypodontia [RCV001307437] Chr14:36663182 [GRCh38]
Chr14:37132387 [GRCh37]
Chr14:14q13.3		 uncertain significance
NC_000014.8:g.(?_37145383)_(37145677_?)del deletion Hypodontia [RCV001300580] Chr14:37145383..37145677 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu) single nucleotide variant Oligodontia [RCV001374729] Chr14:36663038 [GRCh38]
Chr14:37132243 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro) single nucleotide variant Oligodontia [RCV001374730] Chr14:36663032 [GRCh38]
Chr14:37132237 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.72_76dup (p.Arg26fs) duplication Hypodontia [RCV001390465] Chr14:36662962..36662963 [GRCh38]
Chr14:37132167..37132168 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.608del (p.Gly203fs) deletion Hypodontia [RCV001388504]|PAX9-related disorder [RCV003405637] Chr14:36663498 [GRCh38]
Chr14:37132703 [GRCh37]
Chr14:14q13.3		 pathogenic|likely pathogenic
NM_001372076.1(PAX9):c.631+175A>T single nucleotide variant not provided [RCV001666124] Chr14:36663698 [GRCh38]
Chr14:37132903 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.771+304A>G single nucleotide variant not provided [RCV001687558] Chr14:36666905 [GRCh38]
Chr14:37136110 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.455_456insCTACACCT (p.Ala153fs) insertion Partial congenital absence of teeth [RCV001384686] Chr14:36663347..36663348 [GRCh38]
Chr14:37132552..37132553 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.30G>A (p.Gln10=) single nucleotide variant Hypodontia [RCV001520769] Chr14:36662922 [GRCh38]
Chr14:37132127 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.428A>G (p.Tyr143Cys) single nucleotide variant Hypodontia [RCV001482311]|not provided [RCV004704605] Chr14:36663320 [GRCh38]
Chr14:37132525 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.218G>T (p.Gly73Val) single nucleotide variant not provided [RCV001732238] Chr14:36663110 [GRCh38]
Chr14:37132315 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.25A>G (p.Asn9Asp) single nucleotide variant not provided [RCV001765408] Chr14:36662917 [GRCh38]
Chr14:37132122 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter) single nucleotide variant Hypodontia [RCV002044559] Chr14:36663374 [GRCh38]
Chr14:37132579 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.350T>G (p.Val117Gly) single nucleotide variant Tooth agenesis, selective, 3 [RCV001829279] Chr14:36663242 [GRCh38]
Chr14:37132447 [GRCh37]
Chr14:14q13.3		 uncertain significance
NC_000014.8:g.(?_36986483)_(37228504_?)dup duplication not provided [RCV001982815] Chr14:36986483..37228504 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.844_845insTTGC (p.Gln282fs) insertion Hypodontia [RCV001872481] Chr14:36676269..36676270 [GRCh38]
Chr14:37145474..37145475 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549) copy number loss not specified [RCV002053095] Chr14:36862276..41597549 [GRCh37]
Chr14:14q13.3-21.1		 pathogenic
GRCh37/hg19 14q13.3(chr14:36924877-37247672) copy number gain not specified [RCV002053096] Chr14:36924877..37247672 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562) copy number loss not specified [RCV002053094] Chr14:35850213..40138562 [GRCh37]
Chr14:14q13.2-21.1		 pathogenic
GRCh37/hg19 14q13.3(chr14:36933561-37247672) copy number gain not specified [RCV002053097] Chr14:36933561..37247672 [GRCh37]
Chr14:14q13.3		 uncertain significance
NC_000014.8:g.(?_36986483)_(37641555_?)del deletion not provided [RCV001965234] Chr14:36986483..37641555 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter) single nucleotide variant Hypodontia [RCV002049257] Chr14:36663312 [GRCh38]
Chr14:37132517 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter) duplication Hypodontia [RCV001972802] Chr14:36663319..36663320 [GRCh38]
Chr14:37132524..37132525 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.184G>A (p.Glu62Lys) single nucleotide variant Hypodontia [RCV001885882] Chr14:36663076 [GRCh38]
Chr14:37132281 [GRCh37]
Chr14:14q13.3		 uncertain significance
NC_000014.9:g.36659359C>A single nucleotide variant Hypodontia [RCV002117731] Chr14:36659359 [GRCh38]
Chr14:37128564 [GRCh37]
Chr14:14q13.3		 benign
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NC_000014.8:g.(?_37145383)_(37641555_?)del deletion Hypodontia [RCV003116539] Chr14:37145383..37641555 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.648dup (p.Tyr217fs) duplication Hypodontia [RCV005095916]|Tooth agenesis, selective, 3 [RCV002260956] Chr14:36666473..36666474 [GRCh38]
Chr14:37135678..37135679 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.354del (p.Ser119fs) deletion Tooth agenesis, selective, 3 [RCV002260955] Chr14:36663244 [GRCh38]
Chr14:37132449 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.191G>T (p.Gly64Val) single nucleotide variant Tooth agenesis, selective, 3 [RCV002260957] Chr14:36663083 [GRCh38]
Chr14:37132288 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.433C>T (p.Gln145Ter) single nucleotide variant not provided [RCV002291866] Chr14:36663325 [GRCh38]
Chr14:37132530 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.487_490dup (p.Ser164fs) duplication Tooth agenesis, selective, 3 [RCV002267694] Chr14:36663378..36663379 [GRCh38]
Chr14:37132583..37132584 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.248T>G (p.Val83Gly) single nucleotide variant Hypodontia [RCV002302192] Chr14:36663140 [GRCh38]
Chr14:37132345 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.343T>C (p.Tyr115His) single nucleotide variant Hypodontia [RCV002615087] Chr14:36663235 [GRCh38]
Chr14:37132440 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.77G>A (p.Arg26Gln) single nucleotide variant Hypodontia [RCV002819903] Chr14:36662969 [GRCh38]
Chr14:37132174 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.930G>T (p.Leu310Phe) single nucleotide variant Inborn genetic diseases [RCV002844426] Chr14:36676356 [GRCh38]
Chr14:37145561 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.232G>C (p.Val78Leu) single nucleotide variant Hypodontia [RCV002820332] Chr14:36663124 [GRCh38]
Chr14:37132329 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.22G>A (p.Val8Met) single nucleotide variant Inborn genetic diseases [RCV002823616] Chr14:36662914 [GRCh38]
Chr14:37132119 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.438C>T (p.His146=) single nucleotide variant Hypodontia [RCV002847115] Chr14:36663330 [GRCh38]
Chr14:37132535 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.1007T>C (p.Val336Ala) single nucleotide variant Inborn genetic diseases [RCV002951968] Chr14:36676433 [GRCh38]
Chr14:37145638 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.1013C>T (p.Ala338Val) single nucleotide variant Inborn genetic diseases [RCV002854320] Chr14:36676439 [GRCh38]
Chr14:37145644 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.593_596dup (p.Asp200fs) duplication Hypodontia [RCV002875714] Chr14:36663484..36663485 [GRCh38]
Chr14:37132689..37132690 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu) single nucleotide variant Hypodontia [RCV002938217]|Inborn genetic diseases [RCV003308342] Chr14:36663350 [GRCh38]
Chr14:37132555 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.285del (p.Gly96fs) deletion Hypodontia [RCV003010349] Chr14:36663174 [GRCh38]
Chr14:37132379 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.569G>A (p.Arg190His) single nucleotide variant Hypodontia [RCV002584396] Chr14:36663461 [GRCh38]
Chr14:37132666 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.775C>T (p.Pro259Ser) single nucleotide variant Inborn genetic diseases [RCV003203487]|not provided [RCV004779509] Chr14:36676201 [GRCh38]
Chr14:37145406 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.709G>T (p.Ala237Ser) single nucleotide variant Inborn genetic diseases [RCV003219709] Chr14:36666539 [GRCh38]
Chr14:37135744 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter) single nucleotide variant Tooth agenesis, selective, 3 [RCV003324104] Chr14:36663004 [GRCh38]
Chr14:37132209 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.191del (p.Gly64fs) deletion Tooth agenesis, selective, 3 [RCV003324108] Chr14:36663081 [GRCh38]
Chr14:37132286 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.305del (p.Ile102fs) deletion Tooth agenesis, selective, 3 [RCV003324109] Chr14:36663197 [GRCh38]
Chr14:37132402 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys) single nucleotide variant not provided [RCV003322201] Chr14:36662920 [GRCh38]
Chr14:37132125 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.247G>T (p.Val83Leu) single nucleotide variant not provided [RCV003322001] Chr14:36663139 [GRCh38]
Chr14:37132344 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.365C>A (p.Ser122Tyr) single nucleotide variant Tooth agenesis, selective, 3 [RCV003324110] Chr14:36663257 [GRCh38]
Chr14:37132462 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.395del (p.Gly132fs) deletion Tooth agenesis, selective, 3 [RCV003324111] Chr14:36663286 [GRCh38]
Chr14:37132491 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.133_136del (p.Gln45fs) deletion Tooth agenesis, selective, 3 [RCV003324103] Chr14:36663023..36663026 [GRCh38]
Chr14:37132228..37132231 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.295G>T (p.Ala99Ser) single nucleotide variant not provided [RCV003325014] Chr14:36663187 [GRCh38]
Chr14:37132392 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1 copy number loss not provided [RCV003483199] Chr14:34585231..37477843 [GRCh37]
Chr14:14q13.1-13.3		 pathogenic
NM_001372076.1(PAX9):c.670G>T (p.Glu224Ter) single nucleotide variant Tooth agenesis, selective, 3 [RCV004794721] Chr14:36666500 [GRCh38]
Chr14:37135705 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.139del (p.Arg47fs) deletion PAX9-related disorder [RCV003420908] Chr14:36663031 [GRCh38]
Chr14:37132236 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.508_511dup (p.Ala171fs) duplication PAX9-related disorder [RCV003402423] Chr14:36663397..36663398 [GRCh38]
Chr14:37132602..37132603 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NM_001372076.1(PAX9):c.393C>T (p.Ile131=) single nucleotide variant Hypodontia [RCV003881178] Chr14:36663285 [GRCh38]
Chr14:37132490 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.606G>A (p.Leu202=) single nucleotide variant Hypodontia [RCV003593180] Chr14:36663498 [GRCh38]
Chr14:37132703 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.156C>T (p.Cys52=) single nucleotide variant Hypodontia [RCV003592844] Chr14:36663048 [GRCh38]
Chr14:37132253 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.954G>A (p.Pro318=) single nucleotide variant Hypodontia [RCV003756165] Chr14:36676380 [GRCh38]
Chr14:37145585 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.771+3G>T single nucleotide variant Hypodontia [RCV003755459] Chr14:36666604 [GRCh38]
Chr14:37135809 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.772-2A>G single nucleotide variant Hypodontia [RCV003755518] Chr14:36676196 [GRCh38]
Chr14:37145401 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.565C>T (p.Pro189Ser) single nucleotide variant Hypodontia [RCV003755796] Chr14:36663457 [GRCh38]
Chr14:37132662 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.437A>G (p.His146Arg) single nucleotide variant Hypodontia [RCV003755878] Chr14:36663329 [GRCh38]
Chr14:37132534 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.480C>T (p.Tyr160=) single nucleotide variant Hypodontia [RCV003591141] Chr14:36663372 [GRCh38]
Chr14:37132577 [GRCh37]
Chr14:14q13.3		 likely benign
GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1 copy number loss not specified [RCV003987053] Chr14:29190489..45325177 [GRCh37]
Chr14:14q12-21.2		 pathogenic
NM_006194.4(PAX9):c.-393-874dup duplication PAX9-related disorder [RCV003909805] Chr14:36660817..36660818 [GRCh38]
Chr14:37130022..37130023 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.130C>T (p.Arg44Cys) single nucleotide variant PAX9-related disorder [RCV003901848] Chr14:36663022 [GRCh38]
Chr14:37132227 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.504G>A (p.Ala168=) single nucleotide variant PAX9-related disorder [RCV003981568] Chr14:36663396 [GRCh38]
Chr14:37132601 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.514_516delinsCAA (p.Lys172Gln) indel PAX9-related disorder [RCV003894627] Chr14:36663406..36663408 [GRCh38]
Chr14:37132611..37132613 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.4+10G>A single nucleotide variant PAX9-related disorder [RCV003893821] Chr14:36662103 [GRCh38]
Chr14:37131308 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.771G>A (p.Gln257=) single nucleotide variant Oligodontia [RCV004573144] Chr14:36666601 [GRCh38]
Chr14:37135806 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.637dup (p.Asp213fs) duplication Oligodontia [RCV004573145] Chr14:36666466..36666467 [GRCh38]
Chr14:37135671..37135672 [GRCh37]
Chr14:14q13.3		 pathogenic
NC_000014.8:g.(?_36986483)_(37203798_?)dup duplication not provided [RCV004578222] Chr14:36986483..37203798 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.356C>T (p.Ser119Phe) single nucleotide variant Tooth agenesis, selective, 3 [RCV004595020] Chr14:36663248 [GRCh38]
Chr14:37132453 [GRCh37]
Chr14:14q13.3		 likely pathogenic
NC_000014.8:g.(?_37135647)_(37135826_?)del deletion Hypodontia [RCV004578065] Chr14:37135647..37135826 [GRCh37]
Chr14:14q13.3		 pathogenic
NC_000014.8:g.(?_36986483)_(37489008_?)del deletion not provided [RCV004578184] Chr14:36986483..37489008 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.641G>T (p.Ser214Ile) single nucleotide variant Inborn genetic diseases [RCV004664237] Chr14:36666471 [GRCh38]
Chr14:37135676 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.720G>A (p.Ala240=) single nucleotide variant PAX9-related disorder [RCV004753847] Chr14:36666550 [GRCh38]
Chr14:37135755 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.719C>T (p.Ala240Val) single nucleotide variant Inborn genetic diseases [RCV004956998] Chr14:36666549 [GRCh38]
Chr14:37135754 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.554C>G (p.Ser185Trp) single nucleotide variant Inborn genetic diseases [RCV004956995] Chr14:36663446 [GRCh38]
Chr14:37132651 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.172G>A (p.Ala58Thr) single nucleotide variant Inborn genetic diseases [RCV004956997] Chr14:36663064 [GRCh38]
Chr14:37132269 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q12-21.3(chr14:32084159-47847938)x3 copy number gain not provided [RCV004819602] Chr14:32084159..47847938 [GRCh37]
Chr14:14q12-21.3		 uncertain significance
NM_001372076.1(PAX9):c.703G>T (p.Ala235Ser) single nucleotide variant Inborn genetic diseases [RCV004956996] Chr14:36666533 [GRCh38]
Chr14:37135738 [GRCh37]
Chr14:14q13.3		 uncertain significance
GRCh37/hg19 14q12-21.2(chr14:30935698-44461013)x1 copy number loss not provided [RCV004819379] Chr14:30935698..44461013 [GRCh37]
Chr14:14q12-21.2		 pathogenic
NM_001372076.1(PAX9):c.95T>C (p.Leu32Pro) single nucleotide variant Hypodontia [RCV005112584]|Tooth agenesis, selective, 3 [RCV005007184] Chr14:36662987 [GRCh38]
Chr14:37132192 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.684G>A (p.Leu228=) single nucleotide variant Hypodontia [RCV005088953] Chr14:36666514 [GRCh38]
Chr14:37135719 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.253_259del (p.Lys85fs) deletion Hypodontia [RCV005135358] Chr14:36663145..36663151 [GRCh38]
Chr14:37132350..37132356 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.631+14G>A single nucleotide variant Hypodontia [RCV005189710] Chr14:36663537 [GRCh38]
Chr14:37132742 [GRCh37]
Chr14:14q13.3		 benign
NM_001372076.1(PAX9):c.530C>T (p.Pro177Leu) single nucleotide variant Hypodontia [RCV005185657] Chr14:36663422 [GRCh38]
Chr14:37132627 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.258_259del (p.Ile87fs) microsatellite Hypodontia [RCV005121416] Chr14:36663147..36663148 [GRCh38]
Chr14:37132352..37132353 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.1A>C (p.Met1Leu) single nucleotide variant Hypodontia [RCV005167763] Chr14:36662090 [GRCh38]
Chr14:37131295 [GRCh37]
Chr14:14q13.3		 pathogenic
NM_001372076.1(PAX9):c.45C>T (p.Phe15=) single nucleotide variant Hypodontia [RCV005190790] Chr14:36662937 [GRCh38]
Chr14:37132142 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.335G>T (p.Cys112Phe) single nucleotide variant Hypodontia [RCV005116375] Chr14:36663227 [GRCh38]
Chr14:37132432 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.776C>A (p.Pro259Gln) single nucleotide variant Hypodontia [RCV005070552] Chr14:36676202 [GRCh38]
Chr14:37145407 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.123C>T (p.Asp41=) single nucleotide variant Hypodontia [RCV005184021] Chr14:36663015 [GRCh38]
Chr14:37132220 [GRCh37]
Chr14:14q13.3		 likely benign
NM_001372076.1(PAX9):c.337_345del (p.Asp113_Tyr115del) deletion Hypodontia [RCV005126533] Chr14:36663228..36663236 [GRCh38]
Chr14:37132433..37132441 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.40G>C (p.Val14Leu) single nucleotide variant Hypodontia [RCV005181771] Chr14:36662932 [GRCh38]
Chr14:37132137 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.107G>T (p.Gly36Val) single nucleotide variant Hypodontia [RCV005129320] Chr14:36662999 [GRCh38]
Chr14:37132204 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.593_598dup (p.Thr199_Asp200insValThr) duplication Tooth agenesis, selective, 3 [RCV005400114] Chr14:36663481..36663482 [GRCh38]
Chr14:37132686..37132687 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.815C>G (p.Ser272Cys) single nucleotide variant Inborn genetic diseases [RCV005383913] Chr14:36676241 [GRCh38]
Chr14:37145446 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.613C>T (p.Arg205Cys) single nucleotide variant Inborn genetic diseases [RCV005383914] Chr14:36663505 [GRCh38]
Chr14:37132710 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.1006G>C (p.Val336Leu) single nucleotide variant Inborn genetic diseases [RCV005383912] Chr14:36676432 [GRCh38]
Chr14:37145637 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.751C>A (p.Gln251Lys) single nucleotide variant Tooth agenesis, selective, 3 [RCV005400113] Chr14:36666581 [GRCh38]
Chr14:37135786 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.317T>G (p.Leu106Arg) single nucleotide variant Tooth agenesis, selective, 3 [RCV005256476] Chr14:36663209 [GRCh38]
Chr14:37132414 [GRCh37]
Chr14:14q13.3		 uncertain significance
NM_001372076.1(PAX9):c.914C>A (p.Ala305Asp) single nucleotide variant Inborn genetic diseases [RCV005383911] Chr14:36676340 [GRCh38]
Chr14:37145545 [GRCh37]
Chr14:14q13.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2817
Count of miRNA genes:1095
Interacting mature miRNAs:1377
Transcripts:ENST00000361487, ENST00000402703, ENST00000553267, ENST00000554201, ENST00000555639, ENST00000557107
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597105175GWAS1201249_Hbreast carcinoma QTL GWAS1201249 (human)2e-09mammary gland integrity trait (VT:0010552)143666356436663565Human
597101040GWAS1197114_Hprostate carcinoma QTL GWAS1197114 (human)3e-19prostate integrity trait (VT:0010571)143666698936666990Human
407042730GWAS691706_Hbreast carcinoma QTL GWAS691706 (human)2e-13mammary gland integrity trait (VT:0010552)143666356436663565Human
597071998GWAS1168072_Hbreast carcinoma QTL GWAS1168072 (human)5e-10mammary gland integrity trait (VT:0010552)143666356436663565Human
597049567GWAS1145641_Hbreast carcinoma QTL GWAS1145641 (human)1e-25mammary gland integrity trait (VT:0010552)143666356436663565Human
597050968GWAS1147042_Hprostate carcinoma QTL GWAS1147042 (human)2e-12prostate integrity trait (VT:0010571)143666908936669090Human
597290838GWAS1386912_Hsize QTL GWAS1386912 (human)2e-11size143667531136675312Human
596953094GWAS1072613_Hsize QTL GWAS1072613 (human)2e-11size143667531136675312Human
597024454GWAS1120528_Hbreast carcinoma QTL GWAS1120528 (human)4e-21mammary gland integrity trait (VT:0010552)143666356436663565Human
406992049GWAS641025_HBMI-adjusted waist circumference QTL GWAS641025 (human)1e-08body size trait (VT:0100005)143667531136675312Human
596978402GWAS1097921_Hbody height QTL GWAS1097921 (human)5e-20body height143667531136675312Human
597163630GWAS1259704_Hbreast carcinoma QTL GWAS1259704 (human)8e-09mammary gland integrity trait (VT:0010552)143665820536658206Human
597023497GWAS1119571_Hbreast carcinoma QTL GWAS1119571 (human)2e-21mammary gland integrity trait (VT:0010552)143666734036667341Human
597071880GWAS1167954_Hbreast carcinoma QTL GWAS1167954 (human)9e-13mammary gland integrity trait (VT:0010552)143666356436663565Human

Markers in Region
D10Bir5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,687,369 - 21,687,444UniSTSGRCh37
GRCh371437,132,395 - 37,132,470UniSTSGRCh37
Build 361436,202,146 - 36,202,221RGDNCBI36
Celera1416,995,919 - 16,995,994RGD
Celera2021,761,277 - 21,761,352UniSTS
HuRef2021,650,075 - 21,650,150UniSTS
HuRef1417,246,749 - 17,246,824UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1197 2409 2754 2164 4734 1524 2146 3 435 1443 273 2251 6426 5879 47 3514 1 791 1702 1602 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB248958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW293964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY338688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA667732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB196800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB233208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX231839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L09745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361487   ⟹   ENSP00000355245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,661,860 - 36,679,362 (+)Ensembl
Ensembl Acc Id: ENST00000402703   ⟹   ENSP00000384817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,657,568 - 36,677,804 (+)Ensembl
Ensembl Acc Id: ENST00000553267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,657,568 - 36,662,008 (+)Ensembl
Ensembl Acc Id: ENST00000554201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,662,574 - 36,676,406 (+)Ensembl
Ensembl Acc Id: ENST00000555639   ⟹   ENSP00000501203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,657,671 - 36,663,143 (+)Ensembl
Ensembl Acc Id: ENST00000557107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1436,665,990 - 36,676,355 (+)Ensembl
RefSeq Acc Id: NM_001372076   ⟹   NP_001359005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381436,661,860 - 36,679,362 (+)NCBI
T2T-CHM13v2.01430,851,180 - 30,868,704 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006194   ⟹   NP_006185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381436,657,568 - 36,679,362 (+)NCBI
GRCh371437,126,773 - 37,147,012 (+)ENTREZGENE
GRCh371437,126,773 - 37,147,012 (+)NCBI
Build 361436,196,533 - 36,216,763 (+)NCBI Archive
HuRef1417,241,127 - 17,261,385 (+)ENTREZGENE
CHM1_11437,125,895 - 37,146,158 (+)NCBI
T2T-CHM13v2.01430,846,888 - 30,868,704 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001359005 (Get FASTA)   NCBI Sequence Viewer  
  NP_006185 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD09487 (Get FASTA)   NCBI Sequence Viewer  
  AAH01159 (Get FASTA)   NCBI Sequence Viewer  
  AAQ16120 (Get FASTA)   NCBI Sequence Viewer  
  ADR64934 (Get FASTA)   NCBI Sequence Viewer  
  ADR64935 (Get FASTA)   NCBI Sequence Viewer  
  ADR64936 (Get FASTA)   NCBI Sequence Viewer  
  ADR64937 (Get FASTA)   NCBI Sequence Viewer  
  ADR64938 (Get FASTA)   NCBI Sequence Viewer  
  ADR64939 (Get FASTA)   NCBI Sequence Viewer  
  ADR64940 (Get FASTA)   NCBI Sequence Viewer  
  ADR64941 (Get FASTA)   NCBI Sequence Viewer  
  ADR64942 (Get FASTA)   NCBI Sequence Viewer  
  ADR64943 (Get FASTA)   NCBI Sequence Viewer  
  ADR64944 (Get FASTA)   NCBI Sequence Viewer  
  ADR64945 (Get FASTA)   NCBI Sequence Viewer  
  ADR64946 (Get FASTA)   NCBI Sequence Viewer  
  ADR64947 (Get FASTA)   NCBI Sequence Viewer  
  ADR64948 (Get FASTA)   NCBI Sequence Viewer  
  ADR64949 (Get FASTA)   NCBI Sequence Viewer  
  ADR64950 (Get FASTA)   NCBI Sequence Viewer  
  ADR64951 (Get FASTA)   NCBI Sequence Viewer  
  ADR64952 (Get FASTA)   NCBI Sequence Viewer  
  ADR64953 (Get FASTA)   NCBI Sequence Viewer  
  ADR64954 (Get FASTA)   NCBI Sequence Viewer  
  ADR64955 (Get FASTA)   NCBI Sequence Viewer  
  ADR64956 (Get FASTA)   NCBI Sequence Viewer  
  ADR64957 (Get FASTA)   NCBI Sequence Viewer  
  ADR64958 (Get FASTA)   NCBI Sequence Viewer  
  ADR64959 (Get FASTA)   NCBI Sequence Viewer  
  ADR64960 (Get FASTA)   NCBI Sequence Viewer  
  ADR64961 (Get FASTA)   NCBI Sequence Viewer  
  ADR64962 (Get FASTA)   NCBI Sequence Viewer  
  ADR64963 (Get FASTA)   NCBI Sequence Viewer  
  ADR64964 (Get FASTA)   NCBI Sequence Viewer  
  ADR64965 (Get FASTA)   NCBI Sequence Viewer  
  ADR64966 (Get FASTA)   NCBI Sequence Viewer  
  ADR64967 (Get FASTA)   NCBI Sequence Viewer  
  ADR64968 (Get FASTA)   NCBI Sequence Viewer  
  ADR64969 (Get FASTA)   NCBI Sequence Viewer  
  ADR64970 (Get FASTA)   NCBI Sequence Viewer  
  ADR64971 (Get FASTA)   NCBI Sequence Viewer  
  ADR64972 (Get FASTA)   NCBI Sequence Viewer  
  ADR64973 (Get FASTA)   NCBI Sequence Viewer  
  ADR64974 (Get FASTA)   NCBI Sequence Viewer  
  ADR64975 (Get FASTA)   NCBI Sequence Viewer  
  ADR64976 (Get FASTA)   NCBI Sequence Viewer  
  ADR64977 (Get FASTA)   NCBI Sequence Viewer  
  ADR64978 (Get FASTA)   NCBI Sequence Viewer  
  ADR64979 (Get FASTA)   NCBI Sequence Viewer  
  ADR64980 (Get FASTA)   NCBI Sequence Viewer  
  ADR64981 (Get FASTA)   NCBI Sequence Viewer  
  ADR64982 (Get FASTA)   NCBI Sequence Viewer  
  ADR64983 (Get FASTA)   NCBI Sequence Viewer  
  ADR64984 (Get FASTA)   NCBI Sequence Viewer  
  ADR64985 (Get FASTA)   NCBI Sequence Viewer  
  ADR64986 (Get FASTA)   NCBI Sequence Viewer  
  ADR64987 (Get FASTA)   NCBI Sequence Viewer  
  ADR64988 (Get FASTA)   NCBI Sequence Viewer  
  ADR64989 (Get FASTA)   NCBI Sequence Viewer  
  ADR64990 (Get FASTA)   NCBI Sequence Viewer  
  ADR64991 (Get FASTA)   NCBI Sequence Viewer  
  ADR64992 (Get FASTA)   NCBI Sequence Viewer  
  ADR64993 (Get FASTA)   NCBI Sequence Viewer  
  ADR64994 (Get FASTA)   NCBI Sequence Viewer  
  ADR64995 (Get FASTA)   NCBI Sequence Viewer  
  ADR64996 (Get FASTA)   NCBI Sequence Viewer  
  ADR64997 (Get FASTA)   NCBI Sequence Viewer  
  ADR64998 (Get FASTA)   NCBI Sequence Viewer  
  ADR64999 (Get FASTA)   NCBI Sequence Viewer  
  ADR65000 (Get FASTA)   NCBI Sequence Viewer  
  ADR65001 (Get FASTA)   NCBI Sequence Viewer  
  ADR65002 (Get FASTA)   NCBI Sequence Viewer  
  ADR65003 (Get FASTA)   NCBI Sequence Viewer  
  ADR65004 (Get FASTA)   NCBI Sequence Viewer  
  ADR65005 (Get FASTA)   NCBI Sequence Viewer  
  ADR65006 (Get FASTA)   NCBI Sequence Viewer  
  ADR65007 (Get FASTA)   NCBI Sequence Viewer  
  ADR65008 (Get FASTA)   NCBI Sequence Viewer  
  ADR65009 (Get FASTA)   NCBI Sequence Viewer  
  ADR65010 (Get FASTA)   NCBI Sequence Viewer  
  ADR65011 (Get FASTA)   NCBI Sequence Viewer  
  ADR65012 (Get FASTA)   NCBI Sequence Viewer  
  ADR65013 (Get FASTA)   NCBI Sequence Viewer  
  ADR65014 (Get FASTA)   NCBI Sequence Viewer  
  ADR65015 (Get FASTA)   NCBI Sequence Viewer  
  ADR65016 (Get FASTA)   NCBI Sequence Viewer  
  ADR65017 (Get FASTA)   NCBI Sequence Viewer  
  ADR65018 (Get FASTA)   NCBI Sequence Viewer  
  ADR65019 (Get FASTA)   NCBI Sequence Viewer  
  ADR65020 (Get FASTA)   NCBI Sequence Viewer  
  ADR65021 (Get FASTA)   NCBI Sequence Viewer  
  ADR65022 (Get FASTA)   NCBI Sequence Viewer  
  ADR65023 (Get FASTA)   NCBI Sequence Viewer  
  ADR65024 (Get FASTA)   NCBI Sequence Viewer  
  ADR65025 (Get FASTA)   NCBI Sequence Viewer  
  ADR65026 (Get FASTA)   NCBI Sequence Viewer  
  ADR65027 (Get FASTA)   NCBI Sequence Viewer  
  ADR65028 (Get FASTA)   NCBI Sequence Viewer  
  ADR65029 (Get FASTA)   NCBI Sequence Viewer  
  ADR65030 (Get FASTA)   NCBI Sequence Viewer  
  ADR65031 (Get FASTA)   NCBI Sequence Viewer  
  ADR65032 (Get FASTA)   NCBI Sequence Viewer  
  ADR65033 (Get FASTA)   NCBI Sequence Viewer  
  ADR65034 (Get FASTA)   NCBI Sequence Viewer  
  ADR65035 (Get FASTA)   NCBI Sequence Viewer  
  ADR65036 (Get FASTA)   NCBI Sequence Viewer  
  ADR65037 (Get FASTA)   NCBI Sequence Viewer  
  ADR65038 (Get FASTA)   NCBI Sequence Viewer  
  ADR65039 (Get FASTA)   NCBI Sequence Viewer  
  ADR65040 (Get FASTA)   NCBI Sequence Viewer  
  ADR65041 (Get FASTA)   NCBI Sequence Viewer  
  ADR65042 (Get FASTA)   NCBI Sequence Viewer  
  ADR65043 (Get FASTA)   NCBI Sequence Viewer  
  ADR65044 (Get FASTA)   NCBI Sequence Viewer  
  ADR65045 (Get FASTA)   NCBI Sequence Viewer  
  ADR65046 (Get FASTA)   NCBI Sequence Viewer  
  ADR65047 (Get FASTA)   NCBI Sequence Viewer  
  ADR65048 (Get FASTA)   NCBI Sequence Viewer  
  ADR65049 (Get FASTA)   NCBI Sequence Viewer  
  ADR65050 (Get FASTA)   NCBI Sequence Viewer  
  ADR65051 (Get FASTA)   NCBI Sequence Viewer  
  ADR65052 (Get FASTA)   NCBI Sequence Viewer  
  ADR65053 (Get FASTA)   NCBI Sequence Viewer  
  ADR65054 (Get FASTA)   NCBI Sequence Viewer  
  ADR65055 (Get FASTA)   NCBI Sequence Viewer  
  ADR65056 (Get FASTA)   NCBI Sequence Viewer  
  ADR65057 (Get FASTA)   NCBI Sequence Viewer  
  ADR65058 (Get FASTA)   NCBI Sequence Viewer  
  ADR65059 (Get FASTA)   NCBI Sequence Viewer  
  ADR65060 (Get FASTA)   NCBI Sequence Viewer  
  ADR65061 (Get FASTA)   NCBI Sequence Viewer  
  ADR65062 (Get FASTA)   NCBI Sequence Viewer  
  ADR65063 (Get FASTA)   NCBI Sequence Viewer  
  ADR65064 (Get FASTA)   NCBI Sequence Viewer  
  ADR65065 (Get FASTA)   NCBI Sequence Viewer  
  ADR65066 (Get FASTA)   NCBI Sequence Viewer  
  ADR65067 (Get FASTA)   NCBI Sequence Viewer  
  ADR65068 (Get FASTA)   NCBI Sequence Viewer  
  ADR65069 (Get FASTA)   NCBI Sequence Viewer  
  ADR65070 (Get FASTA)   NCBI Sequence Viewer  
  ADR65071 (Get FASTA)   NCBI Sequence Viewer  
  ADR65072 (Get FASTA)   NCBI Sequence Viewer  
  ADR65073 (Get FASTA)   NCBI Sequence Viewer  
  APW84882 (Get FASTA)   NCBI Sequence Viewer  
  BAE79273 (Get FASTA)   NCBI Sequence Viewer  
  BAG36387 (Get FASTA)   NCBI Sequence Viewer  
  CAA63436 (Get FASTA)   NCBI Sequence Viewer  
  CAB41533 (Get FASTA)   NCBI Sequence Viewer  
  EAW65853 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355245
  ENSP00000355245.6
  ENSP00000384817
  ENSP00000384817.2
GenBank Protein P55771 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006185   ⟸   NM_006194
- UniProtKB: Q99582 (UniProtKB/Swiss-Prot),   Q9UQR4 (UniProtKB/Swiss-Prot),   P55771 (UniProtKB/Swiss-Prot),   Q2L4T1 (UniProtKB/TrEMBL),   B2R940 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001359005   ⟸   NM_001372076
- UniProtKB: Q99582 (UniProtKB/Swiss-Prot),   P55771 (UniProtKB/Swiss-Prot),   Q9UQR4 (UniProtKB/Swiss-Prot),   Q2L4T1 (UniProtKB/TrEMBL),   B2R940 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000501203   ⟸   ENST00000555639
Ensembl Acc Id: ENSP00000355245   ⟸   ENST00000361487
Ensembl Acc Id: ENSP00000384817   ⟸   ENST00000402703
Protein Domains
Paired

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55771-F1-model_v2 AlphaFold P55771 1-341 view protein structure

Promoters
RGD ID:6791492
Promoter ID:HG_KWN:19232
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000402018
Position:
Human AssemblyChrPosition (strand)Source
Build 361436,200,554 - 36,201,054 (+)MPROMDB
RGD ID:7227451
Promoter ID:EPDNEW_H19472
Type:initiation region
Name:PAX9_1
Description:paired box 9
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
GRCh381436,661,860 - 36,661,920EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8623 AgrOrtholog
COSMIC PAX9 COSMIC
Ensembl Genes ENSG00000198807 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361487 ENTREZGENE
  ENST00000361487.7 UniProtKB/Swiss-Prot
  ENST00000402703 ENTREZGENE
  ENST00000402703.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000198807 GTEx
HGNC ID HGNC:8623 ENTREZGENE
Human Proteome Map PAX9 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  PAIRED_DNA_bd_dom UniProtKB/Swiss-Prot
  Paired_dom UniProtKB/Swiss-Prot
  PAX_fam UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:5083 UniProtKB/Swiss-Prot
NCBI Gene 5083 ENTREZGENE
OMIM 167416 OMIM
PANTHER PTHR45636 UniProtKB/Swiss-Prot
  PTHR45636:SF13 UniProtKB/Swiss-Prot
Pfam PAX UniProtKB/Swiss-Prot
PharmGKB PA32963 PharmGKB
PRINTS PAIREDBOX UniProtKB/Swiss-Prot
PROSITE PAIRED_1 UniProtKB/Swiss-Prot
  PAIRED_2 UniProtKB/Swiss-Prot
SMART PAX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A0A669KBA7_HUMAN UniProtKB/TrEMBL
  B2R940 ENTREZGENE, UniProtKB/TrEMBL
  E9KY20_HUMAN UniProtKB/TrEMBL
  E9KY40_HUMAN UniProtKB/TrEMBL
  E9KY68_HUMAN UniProtKB/TrEMBL
  P55771 ENTREZGENE, UniProtKB/Swiss-Prot
  Q2L4T1 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z4A7_HUMAN UniProtKB/TrEMBL
  Q99582 ENTREZGENE
  Q9UQR4 ENTREZGENE
UniProt Secondary Q99582 UniProtKB/Swiss-Prot
  Q9UQR4 UniProtKB/Swiss-Prot