PAX4 (paired box 4) - Rat Genome Database

Name: PAX4
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: PAX4 (paired box 4) Homo sapiens

Analyze

Symbol:

PAX4

Name:

paired box 4

RGD ID:

1347682

HGNC Page

HGNC:8618

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in anatomical structure development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II and positive regulation of epithelial cell differentiation. Predicted to be located in nucleoplasm. Predicted to be part of chromatin. Implicated in diabetic ketoacidosis; maturity-onset diabetes of the young type 9; type 1 diabetes mellitus; and type 2 diabetes mellitus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

KPD; MGC129960; MODY9; paired box gene 4; paired box protein Pax-4; paired domain gene 4

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pax4 (paired box 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Pax4 (paired box 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Pax4 (paired box 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PAX4 (paired box 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	PAX4 (paired box 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pax4 (paired box 4)	NCBI	Ortholog
Sus scrofa (pig):	PAX4 (paired box 4)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PAX4 (paired box 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pax4 (paired box 4)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Pax4 (paired box 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Pax4 (paired box 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pax4 (paired box 4)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Drosophila melanogaster (fruit fly):	ey	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	npax-2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	127,610,292 - 127,618,142 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	7	127,610,292 - 127,618,142 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	127,250,346 - 127,258,196 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	127,037,582 - 127,043,016 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	126,844,296 - 126,849,731	NCBI
Celera	7	122,054,068 - 122,059,509 (-)	NCBI		Celera
Cytogenetic Map	7	q32.1	NCBI
HuRef	7	121,611,239 - 121,616,685 (-)	NCBI		HuRef
CHM1_1	7	127,183,648 - 127,189,085 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	128,921,978 - 128,929,835 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	126,633,785 - 126,639,226 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

diabetes mellitus (IAGP)

diabetic ketoacidosis (IAGP)

genetic disease (IAGP)

maturity-onset diabetes of the young (IAGP)

maturity-onset diabetes of the young type 1 (IAGP)

maturity-onset diabetes of the young type 9 (IAGP)

melanoma (EXP)

pleomorphic xanthoastrocytoma (IAGP)

type 1 diabetes mellitus (EXP,IAGP)

type 2 diabetes mellitus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (EXP)

5-aza-2'-deoxycytidine (EXP)

5-azacytidine (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

CGP 52608 (EXP)

Cuprizon (ISO)

dexamethasone (ISO)

dextran sulfate (ISO)

genistein (ISO)

okadaic acid (ISO)

resveratrol (EXP)

sodium arsenite (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure development (IBA,IEA)

animal organ morphogenesis (TAS)

cell differentiation (IEA)

circadian rhythm (IEA,ISO)

negative regulation of apoptotic process (IEA,ISO)

negative regulation of DNA-templated transcription (IEA,ISO)

negative regulation of transcription by RNA polymerase II (IEA,ISO)

pancreas development (IEA)

positive regulation of cell differentiation (IEA)

positive regulation of epithelial cell differentiation (IEA,ISO)

regulation of cell differentiation (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA,IEA)

response to cAMP (IEA,ISO)

response to xenobiotic stimulus (IEA,ISO)

retina development in camera-type eye (IEA,ISO)

type B pancreatic cell differentiation (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleoplasm (TAS)

nucleus (IEA)

nucleus (IEA,ISO)

Molecular Function

DNA binding (IEA,TAS)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IEA)

double-stranded DNA binding (IEA,ISO)

nucleic acid binding (IEA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

sequence-specific double-stranded DNA binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating C-peptide concentration (IAGP)

Abnormal oral glucose tolerance (IAGP)

Autoimmunity (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Beta-cell dysfunction (IAGP)

Diabetes mellitus (IAGP)

Elevated hemoglobin A1c (IAGP)

Exocrine pancreatic insufficiency (IAGP)

Glycosuria (IAGP)

Hepatocellular adenoma (IAGP)

Hyperglycemia (IAGP)

Hyperinsulinemic hypoglycemia (IAGP)

Hypoinsulinemia (IAGP)

Increased waist to hip ratio (IAGP)

Insulin resistance (IAGP)

Intrauterine growth retardation (IAGP)

Ketoacidosis (IAGP)

Large for gestational age (IAGP)

Late onset (IAGP)

Maturity-onset diabetes of the young (IAGP)

Multifactorial inheritance (IAGP)

Neonatal hypoglycemia (IAGP)

Nephropathy (IAGP)

Obesity (IAGP)

Overweight (IAGP)

Pancreatic hypoplasia (IAGP)

Pleomorphic xanthoastrocytoma (IAGP)

Renal cyst (IAGP)

Retinopathy (IAGP)

Transient neonatal diabetes mellitus (IAGP)

Type II diabetes mellitus (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity.	Biason-Lauber A, etal., Diabetologia. 2005 May;48(5):900-5. Epub 2005 Apr 15.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	PAX4 gene variations predispose to ketosis-prone diabetes.	Mauvais-Jarvis F, etal., Hum Mol Genet. 2004 Dec 15;13(24):3151-9. Epub 2004 Oct 27.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	PAX4 mutations in Thais with maturity onset diabetes of the young.	Plengvidhya N, etal., J Clin Endocrinol Metab. 2007 Jul;92(7):2821-6. Epub 2007 Apr 10.
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10.	PAX4 mutation (R121W) as a prodiabetic variant in Okinawans.	Shimajiri Y, etal., Biochem Biophys Res Commun. 2003 Mar 7;302(2):342-4.

Additional References at PubMed

PMID:7981748	PMID:8287686	PMID:8431641	PMID:9439631	PMID:9480859	PMID:9598721	PMID:9753306	PMID:10967107	PMID:11263967	PMID:11723072	PMID:12200761	PMID:12477932
PMID:12690205	PMID:12829700	PMID:15161765	PMID:15489334	PMID:15596543	PMID:15650323	PMID:15838687	PMID:16123375	PMID:16423628	PMID:16546275	PMID:16701883	PMID:16911636
PMID:17633464	PMID:17717051	PMID:17989064	PMID:18029348	PMID:18335054	PMID:18617287	PMID:18949370	PMID:19056482	PMID:19228875	PMID:19274049	PMID:19578796	PMID:19641380
PMID:19956100	PMID:20301750	PMID:20360641	PMID:20485196	PMID:21059099	PMID:21263211	PMID:21873635	PMID:22158537	PMID:22521316	PMID:23532257	PMID:24013263	PMID:24468700
PMID:24752311	PMID:25151965	PMID:25416956	PMID:25483960	PMID:25910212	PMID:25951767	PMID:27334367	PMID:27744525	PMID:28218735	PMID:28473536	PMID:28514442	PMID:28730907
PMID:29792621	PMID:29941447	PMID:30021884	PMID:32296183	PMID:33009794	PMID:33961781	PMID:34162761	PMID:35108381	PMID:35570489

Genomics

Comparative Map Data

PAX4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	127,610,292 - 127,618,142 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	7	127,610,292 - 127,618,142 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	127,250,346 - 127,258,196 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	127,037,582 - 127,043,016 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	126,844,296 - 126,849,731	NCBI
Celera	7	122,054,068 - 122,059,509 (-)	NCBI		Celera
Cytogenetic Map	7	q32.1	NCBI
HuRef	7	121,611,239 - 121,616,685 (-)	NCBI		HuRef
CHM1_1	7	127,183,648 - 127,189,085 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	128,921,978 - 128,929,835 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	126,633,785 - 126,639,226 (-)	NCBI

Pax4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	28,442,333 - 28,449,339 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	28,442,333 - 28,449,352 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	28,442,334 - 28,449,340 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	28,442,334 - 28,449,353 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	28,392,334 - 28,399,340 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	28,392,350 - 28,399,285 (-)	NCBI		MGSCv36	mm8
Celera	6	28,449,374 - 28,456,380 (-)	NCBI		Celera
Cytogenetic Map	6	A3.3	NCBI
cM Map	6	11.99	NCBI

Pax4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	4	57,058,453 - 57,065,995 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	57,058,462 - 57,063,408 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	62,041,683 - 62,046,628 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	4	57,957,636 - 57,962,575 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	4	56,359,732 - 56,364,677 (-)	NCBI	Rnor_WKY
Rnor_6.0	4	55,735,640 - 55,753,461 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	55,735,682 - 55,740,627 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	55,483,073 - 55,501,087 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	55,313,500 - 55,318,995 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	55,563,656 - 55,569,152 (-)	NCBI
Celera	4	52,169,993 - 52,174,904 (-)	NCBI		Celera
Cytogenetic Map	4	q22	NCBI

Pax4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955479	8,660,089 - 8,664,463 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955479	8,660,089 - 8,664,463 (-)	NCBI	ChiLan1.0	ChiLan1.0

PAX4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	7	132,260,859 - 132,266,384 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	132,260,859 - 132,268,516 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	7	119,605,924 - 119,613,579 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

PAX4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	8,714,251 - 8,719,387 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	8,714,949 - 8,719,371 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	8,405,492 - 8,412,207 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	8,486,208 - 8,492,923 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	8,486,089 - 8,492,911 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	8,690,433 - 8,697,148 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	8,424,792 - 8,431,504 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	14	8,578,658 - 8,585,374 (+)	NCBI		UU_Cfam_GSD_1.0

Pax4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	53,683,725 - 53,724,528 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	14,807,538 - 14,812,575 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936479	14,807,503 - 14,812,575 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PAX4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	20,673,114 - 20,680,287 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	20,675,874 - 20,680,315 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	21,676,916 - 21,683,984 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PAX4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	96,425,496 - 96,435,846 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	96,425,656 - 96,429,874 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	6,977,047 - 6,981,546 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pax4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624783	8,340,098 - 8,344,371 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624783	8,340,098 - 8,344,371 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PAX4
99 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001366110.1(PAX4):c.772-1G>A	single nucleotide variant	Maturity-onset diabetes of the young type 9 [RCV000014804]	Chr7:127611677 [GRCh38] Chr7:127251731 [GRCh37] Chr7:7q32.1	pathogenic
NM_001366110.1(PAX4):c.360+150G>A	single nucleotide variant	not provided [RCV001564269]	Chr7:127614730 [GRCh38] Chr7:127254784 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV002227035]\|Type 2 diabetes mellitus [RCV000014800]\|not provided [RCV001851858]\|not specified [RCV002247339]	Chr7:127614533 [GRCh38] Chr7:127254587 [GRCh37] Chr7:7q32.1	pathogenic\|benign\|uncertain significance
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp)	single nucleotide variant	Diabetes mellitus, ketosis-prone, susceptibility to [RCV000014801]\|Maturity onset diabetes mellitus in young [RCV000397400]\|Monogenic diabetes [RCV000445408]\|not provided [RCV001511898]\|not specified [RCV000117891]	Chr7:127614497 [GRCh38] Chr7:127254551 [GRCh37] Chr7:7q32.1	risk factor\|benign\|likely benign
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)	single nucleotide variant	Diabetes mellitus, ketosis-prone, susceptibility to [RCV000014802]\|Maturity-onset diabetes of the young type 9 [RCV002467494]\|not provided [RCV001555013]\|not specified [RCV000502142]	Chr7:127615412 [GRCh38] Chr7:127255466 [GRCh37] Chr7:7q32.1	risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)	single nucleotide variant	Maturity-onset diabetes of the young type 9 [RCV000014803]	Chr7:127613804 [GRCh38] Chr7:127253858 [GRCh37] Chr7:7q32.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	copy number loss	See cases [RCV000054171]	Chr7:126859732..132750936 [GRCh38] Chr7:126499786..132435696 [GRCh37] Chr7:126287022..132086236 [NCBI36] Chr7:7q31.33-32.3	pathogenic
NM_006193.2(PAX4):c.348C>T (p.Ile116=)	single nucleotide variant	Malignant melanoma [RCV000067623]	Chr7:127614546 [GRCh38] Chr7:127254600 [GRCh37] Chr7:127041836 [NCBI36] Chr7:7q32.1	not provided
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)	single nucleotide variant	Maturity-onset diabetes of the young type 9 [RCV002467981]\|Monogenic diabetes [RCV000664114]\|not provided [RCV002060805]	Chr7:127615029 [GRCh38] Chr7:127255083 [GRCh37] Chr7:7q32.1	likely benign\|uncertain significance
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002490803]\|Maturity onset diabetes mellitus in young [RCV000374614]\|not provided [RCV000117892]	Chr7:127613803 [GRCh38] Chr7:127253857 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.599G>A (p.Arg200His)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000277989]\|Monogenic diabetes [RCV000664116]\|not provided [RCV001709489]\|not specified [RCV000117893]	Chr7:127613496 [GRCh38] Chr7:127253550 [GRCh37] Chr7:7q32.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000280185]\|not provided [RCV001511815]\|not specified [RCV000117894]	Chr7:127613844 [GRCh38] Chr7:127253898 [GRCh37] Chr7:7q32.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001366110.1(PAX4):c.543A>G (p.Gln181=)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000338737]\|not provided [RCV001682819]\|not specified [RCV000117895]	Chr7:127613775 [GRCh38] Chr7:127253829 [GRCh37] Chr7:7q32.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000302621]\|Type 2 diabetes mellitus [RCV001787923]\|not provided [RCV001511897]\|not specified [RCV000117896]	Chr7:127611134 [GRCh38] Chr7:127251188 [GRCh37] Chr7:7q32.1	benign\|conflicting interpretations of pathogenicity
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	copy number loss	See cases [RCV000137416]	Chr7:123829366..127947731 [GRCh38] Chr7:123469420..127587784 [GRCh37] Chr7:123256656..127375020 [NCBI36] Chr7:7q31.32-32.1	likely pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	copy number loss	See cases [RCV000138226]	Chr7:117326805..134790689 [GRCh38] Chr7:116966859..134475440 [GRCh37] Chr7:116754095..134125980 [NCBI36] Chr7:7q31.2-33	pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	copy number gain	See cases [RCV000138847]	Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3	pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	copy number gain	See cases [RCV000141413]	Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3	pathogenic
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	copy number loss	See cases [RCV000142552]	Chr7:124170657..134163594 [GRCh38] Chr7:123810711..133848346 [GRCh37] Chr7:123597947..133498886 [NCBI36] Chr7:7q31.33-33	pathogenic
GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	copy number loss	See cases [RCV000142521]	Chr7:122018122..128907727 [GRCh38] Chr7:121658176..128547780 [GRCh37] Chr7:121445412..128335016 [NCBI36] Chr7:7q31.32-32.1	pathogenic
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	copy number loss	See cases [RCV000240177]	Chr7:111613396..127897316 [GRCh37] Chr7:7q31.1-32.1	pathogenic
NM_001366110.1(PAX4):c.14-188del	deletion	Maturity onset diabetes mellitus in young [RCV000274890]	Chr7:127615719 [GRCh38] Chr7:127255773 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000266109]\|not specified [RCV000501869]	Chr7:127611106 [GRCh38] Chr7:127251160 [GRCh37] Chr7:7q32.1	likely benign\|uncertain significance
NM_001366110.1(PAX4):c.*211A>G	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000299372]\|Type 2 diabetes mellitus [RCV001788206]\|not provided [RCV001653716]	Chr7:127610853 [GRCh38] Chr7:127250907 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.*494AC[11]	microsatellite	Maturity onset diabetes mellitus in young [RCV000321838]	Chr7:127610547..127610548 [GRCh38] Chr7:127250601..127250602 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.*287C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000396753]	Chr7:127610777 [GRCh38] Chr7:127250831 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.*190C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000354202]\|not provided [RCV001550281]	Chr7:127610874 [GRCh38] Chr7:127250928 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.*477C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000398194]	Chr7:127610587 [GRCh38] Chr7:127250641 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.*722T>C	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000400686]	Chr7:127610342 [GRCh38] Chr7:127250396 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.*402T>C	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000348262]	Chr7:127610662 [GRCh38] Chr7:127250716 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.*33A>C	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000306055]\|not provided [RCV001571531]	Chr7:127611031 [GRCh38] Chr7:127251085 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.493_494insGCAC	insertion	Maturity onset diabetes mellitus in young [RCV000327540]	Chr7:127610570..127610571 [GRCh38] Chr7:127250624..127250625 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.646-7C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000381266]\|not provided [RCV001559560]\|not specified [RCV001821090]	Chr7:127613098 [GRCh38] Chr7:127253152 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.*492G>A	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000382162]	Chr7:127610572 [GRCh38] Chr7:127250626 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.477_478insATGT	insertion	Maturity onset diabetes mellitus in young [RCV000287627]	Chr7:127610586..127610587 [GRCh38] Chr7:127250640..127250641 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002488798]\|Maturity onset diabetes mellitus in young [RCV000401049]	Chr7:127614980 [GRCh38] Chr7:127255034 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002488799]\|Maturity onset diabetes mellitus in young [RCV000308773]\|not provided [RCV001672685]	Chr7:127615429 [GRCh38] Chr7:127255483 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.456C>T (p.Val152=)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000342610]\|not provided [RCV001566635]\|not specified [RCV001821091]	Chr7:127613862 [GRCh38] Chr7:127253916 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000332981]\|Monogenic diabetes [RCV000664117]\|not provided [RCV001696215]	Chr7:127613497 [GRCh38] Chr7:127253551 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.*667AT[1]	microsatellite	Maturity onset diabetes mellitus in young [RCV000311344]	Chr7:127610394..127610395 [GRCh38] Chr7:127250448..127250449 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000293096]\|not provided [RCV001775782]	Chr7:127613524 [GRCh38] Chr7:127253578 [GRCh37] Chr7:7q32.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001366110.1(PAX4):c.772-3del	deletion	Maturity onset diabetes mellitus in young [RCV000327213]\|not provided [RCV002058651]	Chr7:127611679 [GRCh38] Chr7:127251733 [GRCh37] Chr7:7q32.1	benign\|uncertain significance
NM_001366110.1(PAX4):c.*494AC[13]	microsatellite	Maturity onset diabetes mellitus in young [RCV000262111]	Chr7:127610546..127610547 [GRCh38] Chr7:127250600..127250601 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)	single nucleotide variant	Inborn genetic diseases [RCV002523581]\|Maturity onset diabetes mellitus in young [RCV000360663]\|not specified [RCV001844137]	Chr7:127611096 [GRCh38] Chr7:127251150 [GRCh37] Chr7:7q32.1	likely benign\|uncertain significance
NM_001366110.1(PAX4):c.14-176C>A	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000314771]	Chr7:127615707 [GRCh38] Chr7:127255761 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.*521C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000361587]	Chr7:127610543 [GRCh38] Chr7:127250597 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.14-51G>A	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000363421]	Chr7:127615582 [GRCh38] Chr7:127255636 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002488797]\|Maturity onset diabetes mellitus in young [RCV000387437]\|not provided [RCV002524520]	Chr7:127613523 [GRCh38] Chr7:127253577 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000339209]\|Monogenic diabetes [RCV000445454]\|not provided [RCV000998903]\|not specified [RCV000500229]	Chr7:127614927 [GRCh38] Chr7:127254981 [GRCh37] Chr7:7q32.1	likely benign\|uncertain significance
NM_001366110.1(PAX4):c.*494AC[14]	microsatellite	Maturity onset diabetes mellitus in young [RCV000266780]	Chr7:127610546..127610547 [GRCh38] Chr7:127250600..127250601 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.772-13dup	duplication	Maturity onset diabetes mellitus in young [RCV000272111]\|not provided [RCV001675870]	Chr7:127611678..127611679 [GRCh38] Chr7:127251732..127251733 [GRCh37] Chr7:7q32.1	benign\|uncertain significance
NM_001366110.1(PAX4):c.*469TATG[3]	microsatellite	Maturity onset diabetes mellitus in young [RCV000293575]	Chr7:127610587..127610588 [GRCh38] Chr7:127250641..127250642 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.*488GC[4]	microsatellite	Maturity onset diabetes mellitus in young [RCV000291363]	Chr7:127610570..127610571 [GRCh38] Chr7:127250624..127250625 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.474_477dup	duplication	Maturity onset diabetes mellitus in young [RCV000351886]	Chr7:127610586..127610587 [GRCh38] Chr7:127250640..127250641 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.14-101C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000268835]	Chr7:127615632 [GRCh38] Chr7:127255686 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.715+44ATCC[13]	microsatellite	not provided [RCV001566078]	Chr7:127612934..127612935 [GRCh38] Chr7:127252988..127252989 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002506671]\|not provided [RCV001566562]\|not specified [RCV001821897]	Chr7:127613459 [GRCh38] Chr7:127253513 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000302947]	Chr7:127614515 [GRCh38] Chr7:127254569 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.514_521delinsTGAT	indel	Maturity onset diabetes mellitus in young [RCV000316209]	Chr7:127610543..127610550 [GRCh38] Chr7:127250597..127250604 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.*66C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000402021]	Chr7:127610998 [GRCh38] Chr7:127251052 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.13+175G>C	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000333910]\|not provided [RCV001707688]	Chr7:127615741 [GRCh38] Chr7:127255795 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000366634]	Chr7:127611544 [GRCh38] Chr7:127251598 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.14-182G>A	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000369526]	Chr7:127615713 [GRCh38] Chr7:127255767 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.518_521delinsACACTGAT	indel	Maturity onset diabetes mellitus in young [RCV000356918]	Chr7:127610543..127610546 [GRCh38] Chr7:127250597..127250600 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.492_497del	deletion	Maturity onset diabetes mellitus in young [RCV000376450]	Chr7:127610567..127610572 [GRCh38] Chr7:127250621..127250626 [GRCh37] Chr7:7q32.1	uncertain significance
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr)	single nucleotide variant	Monogenic diabetes [RCV000445516]	Chr7:127615417 [GRCh38] Chr7:127255471 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu)	single nucleotide variant	Monogenic diabetes [RCV000445523]\|not provided [RCV000998902]\|not specified [RCV001821215]	Chr7:127611188 [GRCh38] Chr7:127251242 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NM_001366110.1(PAX4):c.868T>C (p.Cys290Arg)	single nucleotide variant	not provided [RCV002056864]\|not specified [RCV000503620]	Chr7:127611580 [GRCh38] Chr7:127251634 [GRCh37] Chr7:7q32.1	likely benign\|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)	single nucleotide variant	Maturity-onset diabetes of the young type 9 [RCV000505682]	Chr7:127613779 [GRCh38] Chr7:127253833 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q32.1(chr7:127186082-127723736)x3	copy number gain	See cases [RCV000512583]	Chr7:127186082..127723736 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
NM_001366110.1(PAX4):c.772-96G>A	single nucleotide variant	not provided [RCV001566610]	Chr7:127611772 [GRCh38] Chr7:127251826 [GRCh37] Chr7:7q32.1	likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001366110.1(PAX4):c.436+79C>T	single nucleotide variant	not provided [RCV001647886]	Chr7:127614403 [GRCh38] Chr7:127254457 [GRCh37] Chr7:7q32.1	benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	copy number loss	not provided [RCV000847911]	Chr7:121480906..129389003 [GRCh37] Chr7:7q31.32-32.2	pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	copy number gain	not provided [RCV001005994]	Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3	pathogenic
NM_001366110.1(PAX4):c.913+48G>A	single nucleotide variant	not provided [RCV001586314]	Chr7:127611487 [GRCh38] Chr7:127251541 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.145-136G>C	single nucleotide variant	not provided [RCV001714400]	Chr7:127615231 [GRCh38] Chr7:127255285 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.715+173T>G	single nucleotide variant	not provided [RCV001639873]	Chr7:127612849 [GRCh38] Chr7:127252903 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.771+113T>C	single nucleotide variant	not provided [RCV001578175]	Chr7:127611832 [GRCh38] Chr7:127251886 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.716-51C>T	single nucleotide variant	not provided [RCV001558925]	Chr7:127612051 [GRCh38] Chr7:127252105 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.562+95_562+96insC	insertion	not provided [RCV001609682]	Chr7:127613660..127613661 [GRCh38] Chr7:127253714..127253715 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.437-246T>G	single nucleotide variant	not provided [RCV001557323]	Chr7:127614127 [GRCh38] Chr7:127254181 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.715+181C>T	single nucleotide variant	not provided [RCV001575434]	Chr7:127612841 [GRCh38] Chr7:127252895 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.436+35G>A	single nucleotide variant	not provided [RCV001566329]	Chr7:127614447 [GRCh38] Chr7:127254501 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.706C>T (p.Gln236Ter)	single nucleotide variant	not provided [RCV002467096]	Chr7:127613031 [GRCh38] Chr7:127253085 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.715+44ATCC[9]	microsatellite	not provided [RCV001564901]	Chr7:127612935..127612942 [GRCh38] Chr7:127252989..127252996 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.772-62C>T	single nucleotide variant	not provided [RCV001714444]	Chr7:127611738 [GRCh38] Chr7:127251792 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.715+44ATCC[12]	microsatellite	not provided [RCV001650594]	Chr7:127612934..127612935 [GRCh38] Chr7:127252988..127252989 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002488616]\|not provided [RCV001766109]	Chr7:127613061 [GRCh38] Chr7:127253115 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.376C>T (p.Arg126Ter)	single nucleotide variant	Type 2 diabetes mellitus [RCV001335385]	Chr7:127614542 [GRCh38] Chr7:127254596 [GRCh37] Chr7:7q32.1	pathogenic
NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter)	single nucleotide variant	not specified [RCV002248076]	Chr7:127611098 [GRCh38] Chr7:127251152 [GRCh37] Chr7:7q32.1	pathogenic\|uncertain significance
NM_001366110.1(PAX4):c.715+44ATCC[10]	microsatellite	not provided [RCV001539265]	Chr7:127612935..127612938 [GRCh38] Chr7:127252989..127252992 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.779dup (p.Gly261fs)	duplication	Type 2 diabetes mellitus [RCV001292874]	Chr7:127611668..127611669 [GRCh38] Chr7:127251722..127251723 [GRCh37] Chr7:7q32.1	pathogenic
NM_001366110.1(PAX4):c.645+53G>A	single nucleotide variant	not provided [RCV001612740]	Chr7:127613397 [GRCh38] Chr7:127253451 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.436+76G>A	single nucleotide variant	not provided [RCV001696340]	Chr7:127614406 [GRCh38] Chr7:127254460 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.-1C>A	single nucleotide variant	not provided [RCV001592214]	Chr7:127615929 [GRCh38] Chr7:127255983 [GRCh37] Chr7:7q32.1	likely benign
GRCh37/hg19 7q31.33-32.1(chr7:127050634-127826231)x3	copy number gain	not provided [RCV001834247]	Chr7:127050634..127826231 [GRCh37] Chr7:7q31.33-32.1	uncertain significance
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002506817]\|not provided [RCV001776901]	Chr7:127615476 [GRCh38] Chr7:127255530 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.716-42C>T	single nucleotide variant	not provided [RCV001786140]	Chr7:127612042 [GRCh38] Chr7:127252096 [GRCh37] Chr7:7q32.1	benign
NM_001366110.1(PAX4):c.211G>A (p.Gly71Ser)	single nucleotide variant	not provided [RCV001759249]	Chr7:127615029 [GRCh38] Chr7:127255083 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln)	single nucleotide variant	not provided [RCV001753248]	Chr7:127615411 [GRCh38] Chr7:127255465 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.511C>T (p.His171Tyr)	single nucleotide variant	not provided [RCV001757735]	Chr7:127613807 [GRCh38] Chr7:127253861 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.250G>C (p.Val84Leu)	single nucleotide variant	not provided [RCV001757428]	Chr7:127614990 [GRCh38] Chr7:127255044 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.182A>G (p.Tyr61Cys)	single nucleotide variant	not provided [RCV001755551]	Chr7:127615058 [GRCh38] Chr7:127255112 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002477995]\|not provided [RCV001757332]	Chr7:127615061 [GRCh38] Chr7:127255115 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.545C>T (p.Ala182Val)	single nucleotide variant	not provided [RCV001869656]\|not specified [RCV001822250]	Chr7:127613773 [GRCh38] Chr7:127253827 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002503315]\|not provided [RCV002074309]\|not specified [RCV001819422]	Chr7:127611954 [GRCh38] Chr7:127252008 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.449C>T (p.Pro150Leu)	single nucleotide variant	not specified [RCV001819441]	Chr7:127613869 [GRCh38] Chr7:127253923 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.80G>A (p.Arg27Gln)	single nucleotide variant	not provided [RCV001926712]	Chr7:127615465 [GRCh38] Chr7:127255519 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.776C>A (p.Ser259Tyr)	single nucleotide variant	not provided [RCV002020364]	Chr7:127611672 [GRCh38] Chr7:127251726 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	copy number gain	not specified [RCV002053715]	Chr7:106984287..128949489 [GRCh37] Chr7:7q22.3-32.1	pathogenic
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	copy number loss	not specified [RCV002053723]	Chr7:123967475..132729981 [GRCh37] Chr7:7q31.33-33	pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	copy number loss	not specified [RCV002053726]	Chr7:124103982..134693590 [GRCh37] Chr7:7q31.33-33	pathogenic
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002490106]\|not provided [RCV001895336]	Chr7:127613830 [GRCh38] Chr7:127253884 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.467A>G (p.His156Arg)	single nucleotide variant	not provided [RCV002005951]	Chr7:127613851 [GRCh38] Chr7:127253905 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.118C>A (p.Pro40Thr)	single nucleotide variant	not provided [RCV001927945]	Chr7:127615427 [GRCh38] Chr7:127255481 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7q32.1(chr7:127167087-127664956)x3	copy number gain	not provided [RCV001836541]	Chr7:127167087..127664956 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.94C>G (p.Arg32Gly)	single nucleotide variant	not provided [RCV002039719]	Chr7:127615451 [GRCh38] Chr7:127255505 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.715+43T>C	single nucleotide variant	not provided [RCV001847465]	Chr7:127612979 [GRCh38] Chr7:127253033 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.800C>T (p.Ala267Val)	single nucleotide variant	not provided [RCV002034243]	Chr7:127611648 [GRCh38] Chr7:127251702 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.563-24C>T	single nucleotide variant	not provided [RCV002034818]	Chr7:127613556 [GRCh38] Chr7:127253610 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.771+6C>T	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002506901]\|not provided [RCV001904414]	Chr7:127611939 [GRCh38] Chr7:127251993 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.58C>G (p.Arg20Gly)	single nucleotide variant	not provided [RCV001900925]	Chr7:127615487 [GRCh38] Chr7:127255541 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.638C>T (p.Thr213Met)	single nucleotide variant	not provided [RCV002012173]	Chr7:127613457 [GRCh38] Chr7:127253511 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.914G>A (p.Gly305Asp)	single nucleotide variant	not provided [RCV002031554]	Chr7:127611206 [GRCh38] Chr7:127251260 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.181T>C (p.Tyr61His)	single nucleotide variant	not provided [RCV001998064]	Chr7:127615059 [GRCh38] Chr7:127255113 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)	single nucleotide variant	Maturity-onset diabetes of the young type 9 [RCV002468339]\|not provided [RCV002034958]	Chr7:127611107 [GRCh38] Chr7:127251161 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.72G>T (p.Leu24=)	single nucleotide variant	not provided [RCV002165349]	Chr7:127615473 [GRCh38] Chr7:127255527 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.175G>C (p.Gly59Arg)	single nucleotide variant	not provided [RCV002091587]	Chr7:127615065 [GRCh38] Chr7:127255119 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.563-11G>A	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002500119]\|not provided [RCV002071721]	Chr7:127613543 [GRCh38] Chr7:127253597 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002486863]\|not provided [RCV002097707]	Chr7:127615429 [GRCh38] Chr7:127255483 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002494124]\|not provided [RCV002215101]	Chr7:127614895 [GRCh38] Chr7:127254949 [GRCh37] Chr7:7q32.1	benign\|likely benign
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_001366110.1(PAX4):c.498C>T (p.His166=)	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002494133]\|not provided [RCV002219211]	Chr7:127613820 [GRCh38] Chr7:127253874 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.144+16C>T	single nucleotide variant	Diabetes mellitus, ketosis-prone [RCV002505847]\|not provided [RCV002181317]	Chr7:127615385 [GRCh38] Chr7:127255439 [GRCh37] Chr7:7q32.1	benign\|likely benign
NM_001366110.1(PAX4):c.233G>A (p.Arg78Gln)	single nucleotide variant	not provided [RCV003122063]	Chr7:127615007 [GRCh38] Chr7:127255061 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.280G>A (p.Glu94Lys)	single nucleotide variant	not provided [RCV002291940]	Chr7:127614960 [GRCh38] Chr7:127255014 [GRCh37] Chr7:7q32.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_001366110.1(PAX4):c.568del (p.Gln190fs)	deletion	not provided [RCV002293680]	Chr7:127613527 [GRCh38] Chr7:127253581 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.-101_-100+2del	deletion	Maturity-onset diabetes of the young type 9 [RCV002468502]	Chr7:127617273..127617276 [GRCh38] Chr7:127257327..127257330 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.1008_1009dup (p.Gln337fs)	microsatellite	not provided [RCV002467288]	Chr7:127611110..127611111 [GRCh38] Chr7:127251164..127251165 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.894C>T (p.Ala298_Cys299=)	single nucleotide variant	not provided [RCV002614370]	Chr7:127611554 [GRCh38] Chr7:127251608 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.886C>T (p.Pro296Ser)	single nucleotide variant	Inborn genetic diseases [RCV002912120]	Chr7:127611562 [GRCh38] Chr7:127251616 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)	single nucleotide variant	Inborn genetic diseases [RCV002761750]	Chr7:127613060 [GRCh38] Chr7:127253114 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.406G>C (p.Gly136Arg)	single nucleotide variant	Inborn genetic diseases [RCV002704488]	Chr7:127614512 [GRCh38] Chr7:127254566 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.562+10T>C	single nucleotide variant	not provided [RCV002690754]	Chr7:127613746 [GRCh38] Chr7:127253800 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.77C>G (p.Thr26Ser)	single nucleotide variant	not provided [RCV002929120]	Chr7:127615468 [GRCh38] Chr7:127255522 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.42G>A (p.Gly14_Leu15=)	single nucleotide variant	not provided [RCV003022678]	Chr7:127615503 [GRCh38] Chr7:127255557 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.508G>A (p.Gly170Ser)	single nucleotide variant	not provided [RCV003086660]	Chr7:127613810 [GRCh38] Chr7:127253864 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.491G>A (p.Gly164Asp)	single nucleotide variant	Inborn genetic diseases [RCV002809943]	Chr7:127613827 [GRCh38] Chr7:127253881 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.521G>A (p.Arg174Gln)	single nucleotide variant	Inborn genetic diseases [RCV002586559]\|not provided [RCV002586558]	Chr7:127613797 [GRCh38] Chr7:127253851 [GRCh37] Chr7:7q32.1	uncertain significance
NM_001366110.1(PAX4):c.772-18C>T	single nucleotide variant	not provided [RCV002588812]	Chr7:127611694 [GRCh38] Chr7:127251748 [GRCh37] Chr7:7q32.1	likely benign
NM_001366110.1(PAX4):c.563-5C>T	single nucleotide variant	not provided [RCV002607036]	Chr7:127613537 [GRCh38] Chr7:127253591 [GRCh37] Chr7:7q32.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2107
Count of miRNA genes:	689
Interacting mature miRNAs:	770
Transcripts:	ENST00000338516, ENST00000341640, ENST00000378740, ENST00000463946, ENST00000477423, ENST00000483494
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

PAX4

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	127,254,988 - 127,255,140	UniSTS	GRCh37
Build 36	7	127,042,224 - 127,042,376	RGD	NCBI36
Celera	7	122,058,717 - 122,058,869	RGD
Cytogenetic Map	7	q32	UniSTS
HuRef	7	121,615,893 - 121,616,045	UniSTS
CRA_TCAGchr7v2	7	126,638,434 - 126,638,586	UniSTS

GDB:455259

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	127,254,988 - 127,255,140	UniSTS	GRCh37
Build 36	7	127,042,224 - 127,042,376	RGD	NCBI36
Celera	7	122,058,717 - 122,058,869	RGD
Cytogenetic Map	7	q32	UniSTS
HuRef	7	121,615,893 - 121,616,045	UniSTS
CRA_TCAGchr7v2	7	126,638,434 - 126,638,586	UniSTS

PAX4__1198

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	127,250,311 - 127,251,090	UniSTS	GRCh37
Build 36	7	127,037,547 - 127,038,326	RGD	NCBI36
Celera	7	122,054,033 - 122,054,818	RGD
HuRef	7	121,611,204 - 121,611,989	UniSTS
CRA_TCAGchr7v2	7	126,633,750 - 126,634,535	UniSTS

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

Low

132

341

Below cutoff

715

291

217

109

393

590

170

686

184

165

150

289

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001366110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001366111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB008913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC000359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC073934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF043978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC107149	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC107150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ442656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000338516 ⟹ ENSP00000344297

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,811 - 127,615,928 (-)	Ensembl

RefSeq Acc Id:

ENST00000341640 ⟹ ENSP00000339906

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,292 - 127,615,726 (-)	Ensembl

RefSeq Acc Id:

ENST00000378740 ⟹ ENSP00000368014

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,811 - 127,615,928 (-)	Ensembl

RefSeq Acc Id:

ENST00000463946

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,938 - 127,615,670 (-)	Ensembl

RefSeq Acc Id:

ENST00000477423

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,611,751 - 127,615,209 (-)	Ensembl

RefSeq Acc Id:

ENST00000483494

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,937 - 127,615,670 (-)	Ensembl

RefSeq Acc Id:

ENST00000611453 ⟹ ENSP00000477877

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,611,816 - 127,615,670 (-)	Ensembl

RefSeq Acc Id:

ENST00000639438 ⟹ ENSP00000491782

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	127,610,292 - 127,618,142 (-)	Ensembl

RefSeq Acc Id:

NM_001366110 ⟹ NP_001353039

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	127,610,292 - 127,618,142 (-)	NCBI
T2T-CHM13v2.0	7	128,921,978 - 128,929,835 (-)	NCBI

Sequence:

show sequence

AGAAGGCTGCCCTCTGCTCTTGAGCACGGGCTCTCTATAGCTCTGGACCCCCTGGCAGGACTGA
AGCAGGAGCAGAGTGGAGGCTGTTACCAAGACCAGATCATCACCACCCCTGGAGCCTGCAGGGG
TCTCAGAAGCTGAGACCTCCCACTGAAGCTCCCACCTCATTTCCTCCACACAGCCCCTGACTTG
TGGCAATGCCAATCTGTGCCTCAGTTTTCTCTTTGGAAAACCTCTGCCTTCTTTCCCGACTTTT
TGGAAAGATGAGAATTTGAAGGGGTCTGTGCCTCTACCTACCTAGAAACAAAGCCAGCCCCCAA
GCTGGAAAAGGAGCTCCTAGAAGGAACTTCCCTTCCCAGCCTTCCCAGCTGGAGTCTCATCCTT
CTGAGGAGGGTCAGCCTGGAGCATGCATCAGGACGGGATCAGCAGCATGAACCAGCTTGGGGGG
CTCTTTGTGAATGGCCGGCCCCTGCCTCTGGATACCCGGCAGCAGATTGTGCGGCTAGCAGTCA
GTGGAATGCGGCCCTGTGACATCTCACGGATCCTTAAGGTATCTAATGGCTGTGTGAGCAAGAT
CCTAGGGCGTTACTACCGCACAGGTGTCTTGGAGCCAAAGGGCATTGGGGGAAGCAAGCCACGG
CTGGCTACACCCCCTGTGGTGGCTCGAATTGCCCAGCTGAAGGGTGAGTGTCCAGCCCTCTTTG
CCTGGGAAATCCAACGCCAGCTTTGTGCTGAAGGGCTTTGCACCCAGGACAAGACTCCCAGTGT
CTCCTCCATCAACCGAGTCCTGCGGGCATTACAGGAGGACCAGGGACTACCGTGCACACGGCTC
AGGTCACCAGCTGTTTTGGCTCCAGCTGTCCTCACTCCCCATAGTGGCTCTGAGACTCCCCGGG
GTACCCACCCAGGGACCGGCCACCGGAATCGGACTATCTTCTCCCCAAGCCAAGCAGAGGCACT
GGAGAAAGAGTTCCAGCGTGGGCAGTATCCTGATTCAGTGGCCCGTGGAAAGCTGGCTACTGCC
ACCTCTCTGCCTGAGGACACGGTGAGGGTCTGGTTTTCCAACAGAAGAGCCAAATGGCGTCGGC
AAGAGAAGCTCAAGTGGGAAATGCAGCTGCCAGGTGCTTCCCAGGGGCTGACTGTACCAAGGGT
TGCCCCAGGAATCATCTCTGCACAGCAGTCCCCTGGCAGTGTGCCCACAGCAGCCCTGCCTGCC
CTGGAACCACTGGGTCCCTCCTGCTATCAGCTGTGCTGGGCAACAGCACCAGAAAGGTGTCTGA
GTGACACCCCACCTAAAGCCTGTCTCAAGCCCTGCTGGGGCCACTTGCCCCCACAGCCGAATTC
CCTGGACTCAGGACTGCTTTGCCTTCCTTGCCCTTCCTCCCACTGTCACCTGGCCAGTCTTAGT
GGCTCTCAGGCCCTGCTCTGGCCTGGCTGCCCACTACTGTATGGCTTGGAATGAGGCAGGAGTG
GGAAGGAGATGGCATAGAGAAGATCTAATACCATCCTGCCCATTGTCCTTACCGTCCTGCCCAT
ACAGACTGTGGCTCCTTCCTCCTTCCTGTGATTGCTCCCTCCTGTGTGGACGTTGCCTGGCCCT
GCCTCGATGCCTCTCTGGCGCATCACCTGATTGGAGGGGCTGGTAAAGCAACACCCACCCACTT
CTCACACTAGCCTTAAGAGGCCTCCACTCAGCAGTAATAAAAGCTGTTTTTATTAGCAGTAGTT
CTGTTGTCCATCATGTTTTCCCTATGAGCACCCCTATGCCCACTCTAATATTCAACAATTATAG
ACAATTTGCCCTATCATTTATTTACATCTATGTATCTACCATCTAATCTATGCATGTATGTAGG
CAATACATGTATCTAAACAATGTATTTGTCAATGCATCAATTTACCTACTCTATGTATGCATCT
ATATGTGTATTATGTATGCGTGCATGCGTGCGCGCACACACACACACACACACACACACTGACA
TTATATCATGGCATTTTATTCCTAAATCTTCCAGCATGCATCCCCAAAAAACAAGAAACTTGTC
TTACATAATCACAATAATATATCCACATCTAAGAAAATTTACTGTAACTTCTTAATCTAAGAAA
ATTATGTATTTTTGTCATATGTATTTTGTCATATGTATTTTGTATTTGCATATGTATTTTGTAT
TTGCATATGTATTTTTGTCATAGCAGCAAACAGAGTGAAATGCCATTTTTCATATTCT

hide sequence

RefSeq Acc Id:

NM_001366111 ⟹ NP_001353040

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	127,610,292 - 127,616,027 (-)	NCBI
T2T-CHM13v2.0	7	128,921,978 - 128,927,720 (-)	NCBI

Sequence:

show sequence

AGCCAGCCCCCAAGCTGGAAAAGGAGCTCCTAGAAGGAACTTCCCTTCCCAGCCTTCCCAGCTG
GAGTCTCATCCTTCTGAGGAGGGTCAGCCTGGAGCATGCATCAGGACGGGATCAGCAGCATGAA
CCAGCTTGGGGGGCTCTTTGTGAATGGCCGGCCCCTGCCTCTGGATACCCGGCAGCAGATTGTG
CGGCTAGCAGTCAGTGGAATGCGGCCCTGTGACATCTCACGGATCCTTAAGGTATCTAATGGCT
GTGTGAGCAAGATCCTAGGGCGTTACTACCGCACAGGTGTCTTGGAGCCAAAGGGCATTGGGGG
AAGCAAGCCACGGCTGGCTACACCCCCTGTGGTGGCTCGAATTGCCCAGCTGAAGGGTGAGTGT
CCAGCCCTCTTTGCCTGGGAAATCCAACGCCAGCTTTGTGCTGAAGGGCTTTGCACCCAGGACA
AGACTCCCAGTGTCTCCTCCATCAACCGAGTCCTGCGGGCATTACAGGAGGACCAGGGACTACC
GTGCACACGGCTCAGGTCACCAGCTGTTTTGGCTCCAGCTGTCCTCACTCCCCATAGTGGCTCT
GAGACTCCCCGGGGTACCCACCCAGGGACCGGCCACCGGAATCGGACTATCTTCTCCCCAAGCC
AAGCAGAGGCACTGGAGAAAGAGTTCCAGCGTGGGCAGTATCCTGATTCAGTGGCCCGTGGAAA
GCTGGCTACTGCCACCTCTCTGCCTGAGGACACGGTGAGGGTCTGGTTTTCCAACAGAAGAGCC
AAATGGCGTCGGCAAGAGAAGCTCAAGTGGGAAATGCAGCTGCCAGGTGCTTCCCAGGGGCTGA
CTGTACCAAGGGTTGCCCCAGGAATCATCTCTGCACAGCAGTCCCCTGGCAGTGTGCCCACAGC
AGCCCTGCCTGCCCTGGAACCACTGGGTCCCTCCTGCTATCAGCTGTGCTGGGCAACAGCACCA
GAAAGGTGTCTGAGTGACACCCCACCTAAAGCCTGTCTCAAGCCCTGCTGGGACTGTGGCTCCT
TCCTCCTTCCTGTGATTGCTCCCTCCTGTGTGGACGTTGCCTGGCCCTGCCTCGATGCCTCTCT
GGCGCATCACCTGATTGGAGGGGCTGGTAAAGCAACACCCACCCACTTCTCACACTAGCCTTAA
GAGGCCTCCACTCAGCAGTAATAAAAGCTGTTTTTATTAGCAGTAGTTCTGTTGTCCATCATGT
TTTCCCTATGAGCACCCCTATGCCCACTCTAATATTCAACAATTATAGACAATTTGCCCTATCA
TTTATTTACATCTATGTATCTACCATCTAATCTATGCATGTATGTAGGCAATACATGTATCTAA
ACAATGTATTTGTCAATGCATCAATTTACCTACTCTATGTATGCATCTATATGTGTATTATGTA
TGCGTGCATGCGTGCGCGCACACACACACACACACACACACACTGACATTATATCATGGCATTT
TATTCCTAAATCTTCCAGCATGCATCCCCAAAAAACAAGAAACTTGTCTTACATAATCACAATA
ATATATCCACATCTAAGAAAATTTACTGTAACTTCTTAATCTAAGAAAATTATGTATTTTTGTC
ATATGTATTTTGTCATATGTATTTTGTATTTGCATATGTATTTTGTATTTGCATATGTATTTTT
GTCATAGCAGCAAACAGAGTGAAATGCCATTTTTCATATTCT

hide sequence

Protein Sequences


Protein RefSeqs	NP_001353039	(Get FASTA)	NCBI Sequence Viewer
	NP_001353040	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD02289	(Get FASTA)	NCBI Sequence Viewer
	AAH74761	(Get FASTA)	NCBI Sequence Viewer
	AAI07150	(Get FASTA)	NCBI Sequence Viewer
	AAI07151	(Get FASTA)	NCBI Sequence Viewer
	ABD97848	(Get FASTA)	NCBI Sequence Viewer
	BAA24506	(Get FASTA)	NCBI Sequence Viewer
	EAL24318	(Get FASTA)	NCBI Sequence Viewer
	EAW83633	(Get FASTA)	NCBI Sequence Viewer
	EAW83634	(Get FASTA)	NCBI Sequence Viewer
	O43316	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001353039 ⟸ NM_001366110
- Peptide Label:	isoform 1
- UniProtKB:	A0A1W2PPX4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001353040 ⟸ NM_001366111
- Peptide Label:	isoform 2
- UniProtKB:	J3KPG0 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000491782 ⟸ ENST00000639438

RefSeq Acc Id:

ENSP00000477877 ⟸ ENST00000611453

RefSeq Acc Id:

ENSP00000344297 ⟸ ENST00000338516

RefSeq Acc Id:

ENSP00000368014 ⟸ ENST00000378740

RefSeq Acc Id:

ENSP00000339906 ⟸ ENST00000341640

Protein Domains

Homeobox Paired

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43316-F1-model_v2	AlphaFold	O43316	1-350	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8618	AgrOrtholog
COSMIC	PAX4	COSMIC
Ensembl Genes	ENSG00000106331	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000339906.2	UniProtKB/Swiss-Prot
	ENSP00000368014	ENTREZGENE
	ENSP00000368014.4	UniProtKB/TrEMBL
	ENSP00000477877.1	UniProtKB/TrEMBL
	ENSP00000491782	ENTREZGENE
	ENSP00000491782.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000341640.6	UniProtKB/Swiss-Prot
	ENST00000378740	ENTREZGENE
	ENST00000378740.6	UniProtKB/TrEMBL
	ENST00000611453.1	UniProtKB/TrEMBL
	ENST00000639438	ENTREZGENE
	ENST00000639438.3	UniProtKB/TrEMBL
Gene3D-CATH	1.10.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeodomain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000106331	GTEx
HGNC ID	HGNC:8618	ENTREZGENE
Human Proteome Map	PAX4	Human Proteome Map
InterPro	Homeobox-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeobox_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeobox_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAIRED_DNA_bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Paired_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAX_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH-like_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5078	UniProtKB/TrEMBL
NCBI Gene	5078	ENTREZGENE
OMIM	125853	OMIM
	167413	OMIM
	612225	OMIM
	612227	OMIM
PANTHER	PTHR45636	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR45636:SF8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Homeodomain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32958	PharmGKB
PRINTS	PAIREDBOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	HOMEOBOX_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HOMEOBOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAIRED_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAIRED_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PAX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A1W2PPX4	ENTREZGENE, UniProtKB/TrEMBL
	A4D0Z1_HUMAN	UniProtKB/TrEMBL
	J3KPG0	ENTREZGENE, UniProtKB/TrEMBL
	O43316	ENTREZGENE, UniProtKB/Swiss-Prot
	Q3KNR4_HUMAN	UniProtKB/TrEMBL
	Q3KNR5_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	O95161	UniProtKB/Swiss-Prot
	Q6B0H0	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar