APLF (aprataxin and PNKP like factor)

Gene: APLF (aprataxin and PNKP like factor) Homo sapiens

Analyze

Symbol:

APLF

Name:

aprataxin and PNKP like factor

RGD ID:

1344091

HGNC Page

HGNC:28724

Description:

Enables several functions, including ADP-D-ribose modification-dependent protein binding activity; nuclease activity; and poly-ADP-D-ribose binding activity. Involved in DNA repair; DNA repair-dependent chromatin remodeling; and protein localization to chromatin. Acts upstream of or within positive regulation of DNA ligation. Located in nucleoplasm. Is active in site of double-strand break.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

APFL; aprataxin and PNK-like factor; aprataxin- and PNK-like factor; apurinic-apyrimidinic endonuclease APLF; C2orf13; FLJ16593; MGC47799; PALF; PNK and APTX-like FHA domain-containing protein; PNK and APTX-like FHA protein; Xip1; XRCC1-interacting protein 1; ZCCHH1; zinc finger, CX5CX6HX5H motif containing 1

RGD Orthologs

Alliance Orthologs

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):	Aplf (aprataxin and PNKP like factor)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Aplf (aprataxin and PNKP like factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Aplf (aprataxin and PNKP like factor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	APLF (aprataxin and PNKP like factor)	NCBI	Ortholog
Canis lupus familiaris (dog):	APLF (aprataxin and PNKP like factor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Aplf (aprataxin and PNKP like factor)	NCBI	Ortholog
Sus scrofa (pig):	APLF (aprataxin and PNKP like factor)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	APLF (aprataxin and PNKP like factor)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Aplf (aprataxin and PNKP like factor)	NCBI	Ortholog
Other homologs ²
Canis lupus familiaris (dog):	PROKR1 (prokineticin receptor 1)	HGNC	OMA
Sus scrofa (pig):	PROKR1 (prokineticin receptor 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Aplf (aprataxin and PNKP like factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Aplf (aprataxin and PNKP like factor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG6171	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PhylomeDB)
Danio rerio (zebrafish):	aplf	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	aplf	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PhylomeDB)
Xenopus laevis (African clawed frog):	aplf.L	Alliance	DIOPT (Xenbase)

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	2	68,467,585 - 68,580,162 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	68,467,572 - 68,655,862 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	68,694,717 - 68,807,294 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	68,548,246 - 68,660,798 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	68,606,392 - 68,718,944	NCBI
Celera	2	68,544,671 - 68,657,741 (+)	NCBI		Celera
Cytogenetic Map	2	p13.3	NCBI
HuRef	2	68,431,541 - 68,543,835 (+)	NCBI		HuRef
CHM1_1	2	68,624,013 - 68,736,628 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	68,479,947 - 68,592,502 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

6-propyl-2-thiouracil (ISO)

acetochlor (EXP)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

azoxystrobin (ISO)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

cadmium atom (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

clothianidin (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

ethyl methanesulfonate (EXP)

folic acid (EXP)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

glyphosate (ISO)

imidacloprid (ISO)

ketamine (ISO)

malathion (EXP)

methyl methanesulfonate (EXP)

ochratoxin A (ISO)

paracetamol (ISO)

perfluorohexanesulfonic acid (EXP,ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

pirinixic acid (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

thiabendazole (ISO)

trichostatin A (EXP)

triphenyl phosphate (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA damage response (IDA)

DNA repair (IDA,IEA)

DNA repair-dependent chromatin remodeling (IDA)

double-strand break repair (IBA,IEA,IMP,ISO)

double-strand break repair via nonhomologous end joining (IMP)

embryo implantation (IEA,ISS)

positive regulation of DNA ligation (IGI)

protein folding (IEA)

protein localization to chromatin (IDA)

regulation of epithelial to mesenchymal transition (IEA,ISS)

regulation of isotype switching (IEA,ISO)

single strand break repair (IMP)

Cellular Component

chromosome (IEA)

cytoplasm (IEA)

cytosol (IEA,ISO)

nucleoplasm (IDA)

nucleus (IBA,IDA,IEA)

site of DNA damage (IDA)

site of double-strand break (IBA,IDA)

Molecular Function

3'-5' exonuclease activity (IDA,IEA)

ADP-D-ribose modification-dependent protein binding (IDA)

DNA endonuclease activity (IDA)

DNA-(apurinic or apyrimidinic site) endonuclease activity (IBA,IDA,IEA)

histone binding (IDA)

histone chaperone activity (IDA)

hydrolase activity (IEA)

metal ion binding (IEA)

nucleotide binding (IDA,IEA)

poly-ADP-D-ribose binding (IDA)

protein binding (IPI)

protein folding chaperone (EXP)

Molecular Pathway Annotations Click to see Annotation Detail View

ADP-ribosylation pathway, mono and poly-ribosylation (TAS)

histone modification pathway (TAS)

non-homologous end joining pathway of double-strand break repair (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Structures and Mechanisms of Enzymes Employed in the Synthesis and Degradation of PARP-Dependent Protein ADP-Ribosylation.	Barkauskaite E, etal., Mol Cell. 2015 Jun 18;58(6):935-46. doi: 10.1016/j.molcel.2015.05.007.
2.	Histone chaperones in nucleosome assembly and human disease.	Burgess RJ and Zhang Z, Nat Struct Mol Biol. 2013 Jan;20(1):14-22. doi: 10.1038/nsmb.2461.
3.	The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway.	Lieber MR Annu Rev Biochem. 2010;79:181-211. doi: 10.1146/annurev.biochem.052308.093131.
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15489334	PMID:15815621	PMID:16344560	PMID:17353262	PMID:17396150	PMID:17507382	PMID:18077224	PMID:18172500	PMID:18474613	PMID:19155274
PMID:19661379	PMID:20098424	PMID:21211721	PMID:21211722	PMID:21414327	PMID:21832049	PMID:21873635	PMID:21885877	PMID:22190364	PMID:23178593	PMID:23689425	PMID:23926104
PMID:23940030	PMID:25416956	PMID:26186194	PMID:27067600	PMID:28514442	PMID:29059378	PMID:29580241	PMID:29905837	PMID:30104678	PMID:30291363	PMID:31287003	PMID:33306668
PMID:33961781

Genomics

Comparative Map Data

APLF
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	68,467,585 - 68,580,162 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	68,467,572 - 68,655,862 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	68,694,717 - 68,807,294 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	68,548,246 - 68,660,798 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	68,606,392 - 68,718,944	NCBI
Celera	2	68,544,671 - 68,657,741 (+)	NCBI		Celera
Cytogenetic Map	2	p13.3	NCBI
HuRef	2	68,431,541 - 68,543,835 (+)	NCBI		HuRef
CHM1_1	2	68,624,013 - 68,736,628 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	68,479,947 - 68,592,502 (+)	NCBI		T2T-CHM13v2.0

Aplf
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	87,605,407 - 87,649,244 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	87,605,406 - 87,649,175 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	87,628,425 - 87,672,237 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	87,628,424 - 87,672,193 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	87,578,423 - 87,622,162 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	87,594,070 - 87,637,788 (-)	NCBI		MGSCv36	mm8
Celera	6	89,562,818 - 89,606,576 (-)	NCBI		Celera
Cytogenetic Map	6	D1	NCBI
cM Map	6	38.52	NCBI

Aplf
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	121,627,800 - 121,679,980 (-)	NCBI		GRCr8
mRatBN7.2	4	120,070,471 - 120,122,656 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	120,070,471 - 120,122,633 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	125,544,041 - 125,602,785 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	121,318,838 - 121,377,584 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	119,943,068 - 120,001,808 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	119,514,822 - 119,568,764 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	119,514,840 - 119,568,736 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	184,767,521 - 184,809,501 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	4	184,816,979 - 184,819,739 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	121,796,926 - 121,849,410 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	109,037,717 - 109,083,976 (-)	NCBI		Celera
Cytogenetic Map	4	q34	NCBI

Aplf
(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_004955424	16,336,228 - 16,448,766 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955424	16,338,546 - 16,449,074 (-)	NCBI	ChiLan1.0	ChiLan1.0

APLF
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	12	57,836,254 - 57,947,492 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	57,838,385 - 57,951,427 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	68,509,314 - 68,629,192 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	69,632,459 - 69,744,611 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	69,632,459 - 69,744,611 (+)	Ensembl	panpan1.1		panPan2

APLF
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	67,454,500 - 67,522,659 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	67,454,356 - 67,521,761 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	67,344,455 - 67,413,321 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	68,473,928 - 68,543,022 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	68,473,934 - 68,546,201 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	68,156,771 - 68,224,622 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	68,455,171 - 68,524,808 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	68,750,534 - 68,819,077 (+)	NCBI		UU_Cfam_GSD_1.0

Aplf
(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_024406292	15,609,577 - 15,713,285 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936491	12,857,785 - 12,962,376 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936491	12,857,928 - 12,961,709 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

APLF
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	73,752,118 - 73,831,035 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	73,752,115 - 73,831,158 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	77,287,005 - 77,362,138 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

APLF
(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	14	38,539,398 - 38,636,666 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	38,540,084 - 38,636,569 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	73,339,984 - 73,456,338 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Aplf
(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_004624762	4,724,813 - 4,847,416 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624762	4,727,834 - 4,847,779 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in APLF
25 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_173545.2(APLF):c.805-4097G>C	single nucleotide variant	Lung cancer [RCV000092288]	Chr2:68533775 [GRCh38] Chr2:68760907 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	copy number gain	See cases [RCV000136053]	Chr2:58279519..83586962 [GRCh38] Chr2:58506654..83814086 [GRCh37] Chr2:58360158..83667597 [NCBI36] Chr2:2p16.1-11.2	pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3	copy number gain	See cases [RCV000137586]	Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2	uncertain significance
GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	copy number loss	See cases [RCV000140691]	Chr2:64587095..69876311 [GRCh38] Chr2:64814229..70103443 [GRCh37] Chr2:64667733..69956947 [NCBI36] Chr2:2p14-13.3	likely pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p13.3(chr2:68690766-68717308)x1	copy number loss	See cases [RCV000448183]	Chr2:68690766..68717308 [GRCh37] Chr2:2p13.3	likely benign
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3	copy number gain	See cases [RCV000448688]	Chr2:62245236..86978895 [GRCh37] Chr2:2p15-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	copy number loss	not provided [RCV000767553]	Chr2:67491378..69679404 [GRCh37] Chr2:2p14-13.3	pathogenic
NM_173545.3(APLF):c.894A>G (p.Ile298Met)	single nucleotide variant	Inborn genetic diseases [RCV003275417]	Chr2:68537961 [GRCh38] Chr2:68765093 [GRCh37] Chr2:2p13.3	uncertain significance
Single allele	duplication	not provided [RCV000677942]	Chr2:63671346..85698002 [GRCh37] Chr2:2p15-11.2	pathogenic
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p13.3(chr2:68652771-68957105)x1	copy number loss	not provided [RCV001005284]	Chr2:68652771..68957105 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.400A>T (p.Ile134Phe)	single nucleotide variant	Inborn genetic diseases [RCV003274711]	Chr2:68513138 [GRCh38] Chr2:68740270 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh37/hg19 2p13.3(chr2:68687774-68748838)x1	copy number loss	not provided [RCV001005285]	Chr2:68687774..68748838 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh37/hg19 2p14-13.3(chr2:68559849-68869517)x1	copy number loss	not provided [RCV001260155]	Chr2:68559849..68869517 [GRCh37] Chr2:2p14-13.3	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p13.3(chr2:68791921-68938872)x1	copy number loss	not provided [RCV001829244]	Chr2:68791921..68938872 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
NM_173545.3(APLF):c.1274C>T (p.Pro425Leu)	single nucleotide variant	Inborn genetic diseases [RCV002879708]	Chr2:68545300 [GRCh38] Chr2:68772432 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.221C>T (p.Pro74Leu)	single nucleotide variant	Inborn genetic diseases [RCV002858987]	Chr2:68502783 [GRCh38] Chr2:68729915 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.1349A>G (p.Asp450Gly)	single nucleotide variant	Inborn genetic diseases [RCV002692338]	Chr2:68577835 [GRCh38] Chr2:68804967 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.545G>A (p.Arg182Lys)	single nucleotide variant	Inborn genetic diseases [RCV002931493]	Chr2:68513603 [GRCh38] Chr2:68740735 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.524A>G (p.Gln175Arg)	single nucleotide variant	Inborn genetic diseases [RCV002645072]	Chr2:68513582 [GRCh38] Chr2:68740714 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.1228G>C (p.Val410Leu)	single nucleotide variant	Inborn genetic diseases [RCV002697438]	Chr2:68545254 [GRCh38] Chr2:68772386 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.1279T>C (p.Cys427Arg)	single nucleotide variant	Inborn genetic diseases [RCV002803907]	Chr2:68545305 [GRCh38] Chr2:68772437 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.439G>A (p.Glu147Lys)	single nucleotide variant	Inborn genetic diseases [RCV002893235]	Chr2:68513177 [GRCh38] Chr2:68740309 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.29G>T (p.Arg10Leu)	single nucleotide variant	Inborn genetic diseases [RCV002763499]	Chr2:68467760 [GRCh38] Chr2:68694892 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.1016A>G (p.Glu339Gly)	single nucleotide variant	Inborn genetic diseases [RCV002813768]	Chr2:68538083 [GRCh38] Chr2:68765215 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.598C>G (p.Leu200Val)	single nucleotide variant	Inborn genetic diseases [RCV002896855]	Chr2:68513656 [GRCh38] Chr2:68740788 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.755G>A (p.Gly252Glu)	single nucleotide variant	Inborn genetic diseases [RCV002934263]	Chr2:68526193 [GRCh38] Chr2:68753325 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.75C>G (p.Ile25Met)	single nucleotide variant	Inborn genetic diseases [RCV003205554]	Chr2:68467806 [GRCh38] Chr2:68694938 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	copy number loss	not provided [RCV003223077]	Chr2:65296579..71305638 [GRCh37] Chr2:2p14-13.3	uncertain significance
NM_173545.3(APLF):c.1040C>T (p.Ser347Phe)	single nucleotide variant	Inborn genetic diseases [RCV003210801]	Chr2:68538107 [GRCh38] Chr2:68765239 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.890C>T (p.Pro297Leu)	single nucleotide variant	Inborn genetic diseases [RCV003303867]	Chr2:68537957 [GRCh38] Chr2:68765089 [GRCh37] Chr2:2p13.3	uncertain significance
NM_173545.3(APLF):c.578A>G (p.Glu193Gly)	single nucleotide variant	Inborn genetic diseases [RCV003188290]	Chr2:68513636 [GRCh38] Chr2:68740768 [GRCh37] Chr2:2p13.3	uncertain significance
GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	copy number loss	not specified [RCV003986387]	Chr2:67702012..70506257 [GRCh37] Chr2:2p14-13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2344
Count of miRNA genes:	671
Interacting mature miRNAs:	747
Transcripts:	ENST00000303795, ENST00000445692, ENST00000471727, ENST00000488585, ENST00000529851
Prediction methods:	Microtar, Miranda, Rnahybrid
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

RH17523

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	68,697,816 - 68,698,006	UniSTS	GRCh37
Build 36	2	68,551,320 - 68,551,510	RGD	NCBI36
Celera	2	68,547,753 - 68,547,943	RGD
Cytogenetic Map	2	p13.3	UniSTS
HuRef	2	68,434,666 - 68,434,856	UniSTS
GeneMap99-GB4 RH Map	2	217.97	UniSTS

D2S2874

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	68,795,094 - 68,795,231	UniSTS	GRCh37
Build 36	2	68,648,598 - 68,648,735	RGD	NCBI36
Celera	2	68,645,539 - 68,645,676	RGD
Cytogenetic Map	2	p13.3	UniSTS
HuRef	2	68,531,640 - 68,531,777	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

Low

2301

1864

1562

495

1218

336

4260

1795

1958

369

1413

1552

173

1198

2697

Below cutoff

136

1120

164

129

723

129

401

1774

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_173545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC105054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC127383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC130709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA641644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000303795 ⟹ ENSP00000307004

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,467,585 - 68,580,162 (+)	Ensembl

RefSeq Acc Id:

ENST00000394342 ⟹ ENSP00000377874

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,645,822 - 68,655,576 (+)	Ensembl

RefSeq Acc Id:

ENST00000445692 ⟹ ENSP00000393403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,467,603 - 68,580,162 (+)	Ensembl

RefSeq Acc Id:

ENST00000471727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,529,638 - 68,630,724 (+)	Ensembl

RefSeq Acc Id:

ENST00000488585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,627,880 - 68,630,872 (+)	Ensembl

RefSeq Acc Id:

ENST00000529851 ⟹ ENSP00000432297

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,467,572 - 68,579,257 (+)	Ensembl

RefSeq Acc Id:

ENST00000627740

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	68,586,854 - 68,655,862 (+)	Ensembl

RefSeq Acc Id:

NM_173545 ⟹ NP_775816

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	68,467,585 - 68,580,162 (+)	NCBI
GRCh37	2	68,694,691 - 68,839,361 (+)	NCBI
Build 36	2	68,548,246 - 68,660,798 (+)	NCBI Archive
HuRef	2	68,431,541 - 68,543,835 (+)	ENTREZGENE
CHM1_1	2	68,624,013 - 68,736,628 (+)	NCBI
T2T-CHM13v2.0	2	68,479,947 - 68,592,502 (+)	NCBI

Sequence:

show sequence

GAGAGGACCGGCGCAGCCGCGGGGAGCCTTTGAGGCCCTCCCTCGGTGTTTTTTCCCAGGGCGT
GGGCTTGCCCCGCGCGTGTCTGTGGAGGGCGGAAACAGCGGAGGGGCCAGTCTCCTGGCGAAGG
GGCCTAATCCTTGCCCGCCATGTCCGGGGGCTTCGAGCTGCAGCCGCGGGACGGCGGTCCCCGG
GTGGCCCTGGCGCCCGGGGAGACGGTGATCGGCCGCGGGCCGCTGCTGGGAATAACAGACAAGA
GAGTATCCAGAAGACATGCCATTCTTGAGGTGGCAGGTGGTCAGCTGCGAATCAAACCGATACA
CACAAATCCATGTTTTTACCAGTCTTCAGAGAAGAGTCAGCTCTTACCATTGAAGCCAAATCTA
TGGTGCTATTTGAATCCTGGAGACAGCTTTTCTTTGTTAGTTGACAAATACATTTTCCGCATTC
TCTCTATACCCTCTGAAGTGGAAATGCAATGTACCTTAAGAAACAGTCAAGTGCTTGATGAAGA
TAATATATTGAATGAAACACCAAAATCCCCCGTGATTAATTTACCTCATGAGACTACTGGTGCC
TCACAACTGGAAGGAAGCACAGAAATAGCCAAGACCCAGATGACTCCCACAAATAGTGTGTCTT
TCCTAGGTGAAAATAGAGACTGCAATAAGCAGCAGCCAATCCTTGCCGAGAGGAAAAGAATCCT
TCCAACTTGGATGTTAGCAGAACATTTAAGTGATCAAAACCTTTCAGTACCAGCAATCAGTGGA
GGTAATGTAATCCAGGGAAGTGGAAAAGAAGAAATCTGCAAAGATAAATCCCAGCTAAACACAA
CCCAGCAAGGAAGAAGGCAATTAATTTCATCAGGAAGTTCAGAAAATACATCAGCAGAACAAGA
CACAGGAGAAGAGTGCAAAAATACTGATCAGGAAGAGTCTACCATTTCATCCAAGGAAATGCCA
CAATCATTTTCTGCAATCACATTAAGTAACACAGAGATGAATAATATTAAGACTAATGCACAGA
GAAACAAACTTCCAATAGAGGAACTTGGTAAAGTTTCTAAACATAAAATTGCCACTAAAAGAAC
ACCACATAAAGAAGATGAGGCAATGAGCTGTTCTGAAAATTGTTCGAGTGCCCAGGGCGACTCA
CTTCAGGATGAGTCTCAAGGGTCTCATTCTGAGTCCAGCTCTAATCCCTCCAATCCTGAAACTT
TGCATGCAAAGGCAACTGATTCAGTTCTACAAGGTTCTGAAGGAAACAAGGTCAAGAGGACATC
CTGCATGTATGGGGCAAACTGCTATAGGAAGAATCCTGTTCATTTTCAACATTTTAGCCATCCT
GGTGATAGTGATTATGGAGGTGTACAAATCGTGGGCCAAGATGAGACTGATGACCGGCCTGAAT
GTCCCTATGGACCATCCTGTTATAGGAAGAATCCCCAGCACAAGATAGAATATAGACATAATAC
GCTTCCAGTGAGAAATGTTTTAGATGAAGATAATGATAATGTTGGGCAACCCAATGAGTATGAC
CTGAACGACAGCTTTCTAGATGATGAGGAAGAAGACTATGAGCCAACAGATGAAGATTCTGACT
GGGAACCAGGAAAGGAAGATGAAGAGAAGGAAGATGTGGAAGAGCTTTTGAAAGAAGCAAAAAG
GTTTATGAAAAGAAAATAGTAACTAACTTCTGTAGTCATATCTGCCTTACATTTACTTTTTCTT
TGTGGGAAAACATTTATGAACTAAGGAGGTACTTAAGTGACAGTTATTTTCCTTCTTTTGATAG
TTAATGACTTTTACTACTGACTCTTTACAAATGAGACATTGAAACGTCAGCCTTCAGTATAATA
GATGGAATTTTTTGTTGCCTTGCCTTTTCTTTCCTACTTAAAGCATCTGGAAATAGGAAGACAG
AGAAGGTAGAGTAAAAATGGATATTTTTTATGTACTTTGTATATTGGTAATAAAAAGTAAAAGC
CATAGGTTGCATAAAACTTTGGTCTTTTTAAATTTTTTTCCAAAGATTATGGAGTACTCTGCAA
GTATAACCAGGCAAAGTACATGAAAACATGCCTCTTTTCATTGTTACTGAAGTAATTCTGTAAG
CAGAACCAGGCTTTAAAAAATGCAGCCATTACATAATGGCGTTTTTTTTCTAGTACCTTAGATG
TGAGCTTTGCAATTTCACTTACTACTTTTATCCTTCAAAACTTGGGAAGATTGGTTCCAAATGG
GTACTGAAAATAGATTCAACTAGGCTGTAGAAGAGAAATGTTCACCATGTAGGGAATGTTATTT
TGTGTTCCACATCTGCAATTTACTGTATGTTTGAATTTAAAAGTAAAAAAACTCAAAAAACTTG
ACCTTTTTTTTCAAACTAAAGTCCTAGCTGATTATTTTAACTCTCAGTGTGCTGTCTTTATATT
AAGAATAGAGAAACGACATAACTTTCTCAAATGGCATTAGTTTTGCCTTAGTTTTTTTGACCTC
AGATGAAAGTAGCAAGTTGTTTGCCAGTTGAAAGTTCAAGATTCTGGCCTCCCATATCAAGAAG
AAACCACTTATTCTCCAGTTTTACAAAGTATCTTTCTGTATTTCTGTTCTAAAACTACTTTAAG
CCCTATAATGCTCTTCATATTACGTGACTTTGAATTGTTAAAATGTAGTTTAGAATCTTTAATA
ACAGTTGGGTTGTGTACACAGAGCAGGAGATATTTATTGAAATCATAAATCACTAAGCCAAAAG
AATCTTTGTTAAATGCTATTATTTTCTACTCTAAAGGAACCTAAAAATTTATATCTTAAAAGAT
CAAAACATATTTATAATAATATTTTCTCATTGCTTTAAAATATATCTCCCAGTAATTATACAAT
ATTTAATATTTACTTAAACTGGAACAAGAATAAGATAAACATTTCTCTAGACTATAACCTATTA
TTCTGATTTTTATCTCTTATTGTTATTTGGGAACTATTTTTCCCCTTATAATGTCCCTTTAGCC
TTGGTAGTATAACAAATCTACGAATGTAATATTTAACTTATTCTCATCCCTGCCACTAACTTAA
TCCTTGAAGTGTTACATAATCTACTCCTAGGTATATACCCAGAGGAATTGAAAACATTTCCACA
TAAAAACTGTACACAATGTCAATAGAAGCATTATTCTTAACAGCCAAAAAGTATAAACACCCAA
AGTCTATCAACTATCAACTGGGTGAATGGATAAGCAAAACGTGGTATATCTGTGCAATGGAATA
TTATTTGGTCATAAAAAGGAATAAAGTACTGATACATGCTACAAGATAGATGAACCTTGAAGGC
AAGTAAAAGAAGCCAGACACAAAAGGCCACATACTGTATGAACTCATTTATATGAAATTTCCAA
AACAGGCAAATCCATAAAGACAGAAAGCAAATTTGTGGTTGCCAGGGACTTGGGGAGGAAGAAT
GGGGAGTGACTGCTAATGAGTATAGGATTTCCTTTTGAGTGATAAAAATGTTCTAAGATTAGAT
GGCAGTGATGGTTGCACAACTCTGTAAATATATTACAAACAATGCATTGTACACTTTCAAAGGG
TAGATTTCATTGCACGTGAACTATATATTTCAATAAATCTGTCACAAAAAAGTAATGCAAAGGG
TAATACCAGTCTTTTAGAAGGAAAAAAATATTTAATATCAAAGGATATTCTTCGTAGTAATGTA
ATAGTTCATGGTAGCTGCTTTTAACGATACAGTTTTAATGCAACTTTCATAATCATCCTGAAGA
CACTTTTGAGTATAACTATTGTATAAATAAATGTATAGCTTAATTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_775816	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH41144	(Get FASTA)	NCBI Sequence Viewer
	AAY14945	(Get FASTA)	NCBI Sequence Viewer
	AAY24008	(Get FASTA)	NCBI Sequence Viewer
	AAY24113	(Get FASTA)	NCBI Sequence Viewer
	BAF83530	(Get FASTA)	NCBI Sequence Viewer
	EAW99871	(Get FASTA)	NCBI Sequence Viewer
	EAW99872	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000307004
	ENSP00000307004.4
	ENSP00000393403.1
	ENSP00000432297.1
GenBank Protein	Q8IW19	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_775816 ⟸ NM_173545

- UniProtKB:

Q53PB9 (UniProtKB/Swiss-Prot), Q53P47 (UniProtKB/Swiss-Prot), A8K476 (UniProtKB/Swiss-Prot), Q53QU0 (UniProtKB/Swiss-Prot), Q8IW19 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSGGFELQPRDGGPRVALAPGETVIGRGPLLGITDKRVSRRHAILEVAGGQLRIKPIHTNPCFY
QSSEKSQLLPLKPNLWCYLNPGDSFSLLVDKYIFRILSIPSEVEMQCTLRNSQVLDEDNILNET
PKSPVINLPHETTGASQLEGSTEIAKTQMTPTNSVSFLGENRDCNKQQPILAERKRILPTWMLA
EHLSDQNLSVPAISGGNVIQGSGKEEICKDKSQLNTTQQGRRQLISSGSSENTSAEQDTGEECK
NTDQEESTISSKEMPQSFSAITLSNTEMNNIKTNAQRNKLPIEELGKVSKHKIATKRTPHKEDE
AMSCSENCSSAQGDSLQDESQGSHSESSSNPSNPETLHAKATDSVLQGSEGNKVKRTSCMYGAN
CYRKNPVHFQHFSHPGDSDYGGVQIVGQDETDDRPECPYGPSCYRKNPQHKIEYRHNTLPVRNV
LDEDNDNVGQPNEYDLNDSFLDDEEEDYEPTDEDSDWEPGKEDEEKEDVEELLKEAKRFMKRK

hide sequence

RefSeq Acc Id:

ENSP00000393403 ⟸ ENST00000445692

RefSeq Acc Id:

ENSP00000377874 ⟸ ENST00000394342

RefSeq Acc Id:

ENSP00000307004 ⟸ ENST00000303795

RefSeq Acc Id:

ENSP00000432297 ⟸ ENST00000529851

Protein Domains

FHA-like PNK FHA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IW19-F1-model_v2	AlphaFold	Q8IW19	1-511	view protein structure

Promoters

RGD ID:

6860540

Promoter ID:

EPDNEW_H3435

Type:

initiation region

Name:

APLF_1

Description:

aprataxin and PNKP like factor

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	68,467,585 - 68,467,645	EPDNEW

RGD ID:

6797487

Promoter ID:

HG_KWN:33046

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000251759, OTTHUMT00000326900, OTTHUMT00000326968, UC010FDF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	68,547,096 - 68,548,442 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28724	AgrOrtholog
COSMIC	APLF	COSMIC
Ensembl Genes	ENSG00000169621	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000303795	ENTREZGENE
	ENST00000303795.9	UniProtKB/Swiss-Prot
	ENST00000445692.5	UniProtKB/TrEMBL
	ENST00000529851.5	UniProtKB/TrEMBL
Gene3D-CATH	2.60.200.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000169621	GTEx
HGNC ID	HGNC:28724	ENTREZGENE
Human Proteome Map	APLF	Human Proteome Map
InterPro	APLF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	APLF_PBZ	UniProtKB/Swiss-Prot
	FHA_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SMAD_FHA_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:200558	UniProtKB/Swiss-Prot
NCBI Gene	200558	ENTREZGENE
OMIM	611035	OMIM
PANTHER	APRATAXIN AND PNK-LIKE FACTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR21315	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FHA_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-CCHH	UniProtKB/Swiss-Prot
PharmGKB	PA164715842	PharmGKB
Superfamily-SCOP	SSF49879	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K476	ENTREZGENE
	APLF_HUMAN	UniProtKB/Swiss-Prot
	E9PRH6_HUMAN	UniProtKB/TrEMBL
	F8WET0_HUMAN	UniProtKB/TrEMBL
	Q53P47	ENTREZGENE
	Q53PB9	ENTREZGENE
	Q53QU0	ENTREZGENE
	Q8IW19	ENTREZGENE
UniProt Secondary	A8K476	UniProtKB/Swiss-Prot
	Q53P47	UniProtKB/Swiss-Prot
	Q53PB9	UniProtKB/Swiss-Prot
	Q53QU0	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)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Send us a Message

Imported Disease Annotations - ClinVar

RGD Manual Annotations