PKHD1L1 (PKHD1 like 1) - Rat Genome Database

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Gene: PKHD1L1 (PKHD1 like 1) Homo sapiens
Analyze
Symbol: PKHD1L1
Name: PKHD1 like 1
RGD ID: 1321293
HGNC Page HGNC
Description: Predicted to be involved in sensory perception of sound. Predicted to localize to cytosol; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; disodium selenite.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp586C1021; fibrocystin L; fibrocystin-L; PKHD1-like protein 1; PKHDL1; polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1; polycystic kidney and hepatic disease 1-like protein 1; polycystic kidney and hepatic disease-like 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,362,461 - 109,537,207 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,362,461 - 109,537,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,374,690 - 110,549,436 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,443,882 - 110,612,676 (+)NCBINCBI36hg18NCBI36
Build 348110,443,881 - 110,611,740NCBI
Celera8106,562,401 - 106,730,887 (+)NCBI
Cytogenetic Map8q23.1-q23.2NCBI
HuRef8105,696,732 - 105,865,477 (+)NCBIHuRef
CHM1_18110,414,966 - 110,583,773 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11329013   PMID:12477932   PMID:12620974   PMID:20379614   PMID:21208571   PMID:21873635   PMID:23251661   PMID:28556638   PMID:29987050  


Genomics

Comparative Map Data
PKHD1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,362,461 - 109,537,207 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,362,461 - 109,537,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,374,690 - 110,549,436 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,443,882 - 110,612,676 (+)NCBINCBI36hg18NCBI36
Build 348110,443,881 - 110,611,740NCBI
Celera8106,562,401 - 106,730,887 (+)NCBI
Cytogenetic Map8q23.1-q23.2NCBI
HuRef8105,696,732 - 105,865,477 (+)NCBIHuRef
CHM1_18110,414,966 - 110,583,773 (+)NCBICHM1_1
Pkhd1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391544,320,792 - 44,464,772 (+)NCBIGRCm39mm39
GRCm39 Ensembl1544,320,890 - 44,464,765 (+)Ensembl
GRCm381544,457,396 - 44,601,376 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1544,457,494 - 44,601,369 (+)EnsemblGRCm38mm10GRCm38
MGSCv371544,289,099 - 44,432,716 (+)NCBIGRCm37mm9NCBIm37
MGSCv361544,287,627 - 44,431,244 (+)NCBImm8
Celera1544,922,570 - 45,056,697 (+)NCBICelera
Cytogenetic Map15B3.2NCBI
Pkhd1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2775,620,384 - 75,795,335 (+)NCBI
Rnor_6.0 Ensembl783,373,022 - 83,545,540 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0783,373,022 - 83,548,944 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0783,387,129 - 83,563,775 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4780,324,195 - 80,499,655 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1780,322,001 - 80,520,504 (+)NCBI
Celera772,604,222 - 72,765,134 (+)NCBICelera
Cytogenetic Map7q31NCBI
Pkhd1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541716,776,731 - 16,922,789 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541716,776,674 - 16,923,058 (+)NCBIChiLan1.0ChiLan1.0
PKHD1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18108,158,018 - 108,325,730 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8108,158,087 - 108,322,665 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08106,012,498 - 106,180,653 (+)NCBIMhudiblu_PPA_v0panPan3
PKHD1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1139,925,047 - 10,073,054 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl139,926,156 - 10,070,253 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha139,915,984 - 10,063,709 (+)NCBI
ROS_Cfam_1.01310,207,124 - 10,354,752 (+)NCBI
UMICH_Zoey_3.1139,948,489 - 10,096,179 (+)NCBI
UNSW_CanFamBas_1.01310,065,464 - 10,213,211 (+)NCBI
UU_Cfam_GSD_1.01310,155,024 - 10,302,902 (+)NCBI
Pkhd1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,058,700 - 28,198,415 (-)NCBI
SpeTri2.0NW_00493647035,484,857 - 35,624,504 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKHD1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1428,023,448 - 28,176,331 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2430,266,239 - 30,406,476 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKHD1L1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18104,072,701 - 104,230,809 (+)NCBI
ChlSab1.1 Ensembl8104,073,327 - 104,230,960 (+)Ensembl
Pkhd1l1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247638,459,642 - 8,610,164 (+)NCBI

Position Markers
D8S1122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,427,143 - 110,427,268UniSTSGRCh37
Build 368110,496,319 - 110,496,444RGDNCBI36
Celera8106,614,832 - 106,614,957RGD
Cytogenetic Map8q23UniSTS
HuRef8105,749,182 - 105,749,310UniSTS
Marshfield Genetic Map8121.9RGD
Marshfield Genetic Map8121.9UniSTS
deCODE Assembly Map8115.38UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH65855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,515,544 - 110,515,665UniSTSGRCh37
Build 368110,584,720 - 110,584,841RGDNCBI36
Celera8106,702,925 - 106,703,046RGD
Cytogenetic Map8q23UniSTS
HuRef8105,837,603 - 105,837,724UniSTS
GeneMap99-GB4 RH Map8446.63UniSTS
NCBI RH Map81197.3UniSTS
G43355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,357,418 - 52,357,673UniSTSGRCh37
GRCh378110,483,567 - 110,483,826UniSTSGRCh37
Build 368110,552,743 - 110,553,002RGDNCBI36
Celera1529,251,854 - 29,252,109UniSTS
Celera8106,671,250 - 106,671,509RGD
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map8q23UniSTS
HuRef1529,188,389 - 29,188,644UniSTS
HuRef8105,805,607 - 105,805,866UniSTS
GDB:229319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,391,922 - 110,392,138UniSTSGRCh37
Build 368110,461,098 - 110,461,314RGDNCBI36
Celera8106,579,615 - 106,579,831RGD
Cytogenetic Map8q23UniSTS
HuRef8105,713,945 - 105,714,161UniSTS
SHGC-144268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,474,561 - 110,474,751UniSTSGRCh37
Build 368110,543,737 - 110,543,927RGDNCBI36
Celera8106,662,242 - 106,662,432RGD
Cytogenetic Map8q23UniSTS
HuRef8105,796,597 - 105,796,787UniSTS
D8S1984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,427,139 - 110,427,309UniSTSGRCh37
Build 368110,496,315 - 110,496,485RGDNCBI36
Celera8106,614,828 - 106,614,998RGD
Cytogenetic Map8q23UniSTS
HuRef8105,749,178 - 105,749,351UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:289
Count of miRNA genes:228
Interacting mature miRNAs:237
Transcripts:ENST00000378402, ENST00000526472, ENST00000533183, ENST00000534623
Prediction methods: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.


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 pharyngeal arch
High
Medium 20 53 671 9 39 7 48 772 336 11
Low 1968 1227 474 146 848 60 2257 969 680 83 809 564 84 585 1377 2
Below cutoff 287 1691 471 384 1002 308 1886 1160 2743 141 488 109 80 272 1381 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_177531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI923283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY219181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG186508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378402   ⟹   ENSP00000367655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,362,461 - 109,537,207 (+)Ensembl
RefSeq Acc Id: ENST00000526472   ⟹   ENSP00000437376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,480,551 - 109,530,260 (+)Ensembl
RefSeq Acc Id: ENST00000533183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,497,229 - 109,499,305 (+)Ensembl
RefSeq Acc Id: ENST00000534623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,522,823 - 109,527,027 (+)Ensembl
RefSeq Acc Id: NM_177531   ⟹   NP_803875
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,461 - 109,537,207 (+)NCBI
GRCh378110,374,706 - 110,543,500 (+)RGD
Build 368110,443,882 - 110,612,676 (+)NCBI Archive
Celera8106,562,401 - 106,730,887 (+)RGD
HuRef8105,696,732 - 105,865,477 (+)RGD
CHM1_18110,414,966 - 110,583,773 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517371   ⟹   XP_011515673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,526 - 109,536,809 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013969   ⟹   XP_016869458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,526 - 109,529,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013970   ⟹   XP_016869459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,526 - 109,529,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013971   ⟹   XP_016869460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,526 - 109,529,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013972   ⟹   XP_016869461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,526 - 109,529,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013973   ⟹   XP_016869462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,425,122 - 109,529,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013974   ⟹   XP_016869463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,437,492 - 109,529,870 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_803875   ⟸   NM_177531
- Peptide Label: precursor
- UniProtKB: Q86WI1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515673   ⟸   XM_011517371
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869458   ⟸   XM_017013969
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869460   ⟸   XM_017013971
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869461   ⟸   XM_017013972
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016869459   ⟸   XM_017013970
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869462   ⟸   XM_017013973
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869463   ⟸   XM_017013974
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000367655   ⟸   ENST00000378402
RefSeq Acc Id: ENSP00000437376   ⟸   ENST00000526472
Protein Domains
G8   IPT/TIG   PA14

Promoters
RGD ID:7213999
Promoter ID:EPDNEW_H12745
Type:initiation region
Name:PKHD1L1_1
Description:PKHD1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,362,496 - 109,362,556EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_177531.4(PKHD1L1):c.2207G>A (p.Gly736Glu) single nucleotide variant Malignant melanoma [RCV000068087] Chr8:109412386 [GRCh38]
Chr8:110424615 [GRCh37]
Chr8:110493791 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.2403G>A (p.Thr801=) single nucleotide variant Malignant melanoma [RCV000068088] Chr8:109419139 [GRCh38]
Chr8:110431368 [GRCh37]
Chr8:110500544 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.3280C>T (p.Pro1094Ser) single nucleotide variant Malignant melanoma [RCV000068089] Chr8:109433156 [GRCh38]
Chr8:110445385 [GRCh37]
Chr8:110514561 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.4022C>T (p.Ser1341Phe) single nucleotide variant Malignant melanoma [RCV000068090] Chr8:109440775 [GRCh38]
Chr8:110453004 [GRCh37]
Chr8:110522180 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.4519C>T (p.Pro1507Ser) single nucleotide variant Malignant melanoma [RCV000068091] Chr8:109443071 [GRCh38]
Chr8:110455300 [GRCh37]
Chr8:110524476 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.6715A>T (p.Ile2239Phe) single nucleotide variant Malignant melanoma [RCV000068092] Chr8:109454217 [GRCh38]
Chr8:110466446 [GRCh37]
Chr8:110535622 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.7162C>T (p.Leu2388Phe) single nucleotide variant Malignant melanoma [RCV000068093] Chr8:109459752 [GRCh38]
Chr8:110471981 [GRCh37]
Chr8:110541157 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.8242C>T (p.Arg2748Cys) single nucleotide variant Malignant melanoma [RCV000068094] Chr8:109465074 [GRCh38]
Chr8:110477303 [GRCh37]
Chr8:110546479 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.8377G>A (p.Glu2793Lys) single nucleotide variant Malignant melanoma [RCV000068095] Chr8:109465209 [GRCh38]
Chr8:110477438 [GRCh37]
Chr8:110546614 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.8458C>T (p.Pro2820Ser) single nucleotide variant Malignant melanoma [RCV000068096] Chr8:109466622 [GRCh38]
Chr8:110478851 [GRCh37]
Chr8:110548027 [NCBI36]
Chr8:8q23.1
not provided
NM_177531.4(PKHD1L1):c.12372G>A (p.Arg4124=) single nucleotide variant Malignant melanoma [RCV000068097] Chr8:109523274 [GRCh38]
Chr8:110535503 [GRCh37]
Chr8:110604679 [NCBI36]
Chr8:8q23.2
not provided
NM_177531.4(PKHD1L1):c.12475C>T (p.Leu4159Phe) single nucleotide variant Malignant melanoma [RCV000068098] Chr8:109523377 [GRCh38]
Chr8:110535606 [GRCh37]
Chr8:110604782 [NCBI36]
Chr8:8q23.2
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3 copy number gain See cases [RCV000142133] Chr8:108988194..109697085 [GRCh38]
Chr8:110000423..110709314 [GRCh37]
Chr8:110069599..110778490 [NCBI36]
Chr8:8q23.1-23.2
likely benign|uncertain significance
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177531.6(PKHD1L1):c.7392T>C (p.His2464=) single nucleotide variant not provided [RCV000947124] Chr8:109464224 [GRCh38]
Chr8:110476453 [GRCh37]
Chr8:8q23.1
benign
NM_177531.6(PKHD1L1):c.6507+1G>A single nucleotide variant not provided [RCV000970708] Chr8:109452281 [GRCh38]
Chr8:110464510 [GRCh37]
Chr8:8q23.1
benign
NM_177531.6(PKHD1L1):c.7715G>A (p.Arg2572Gln) single nucleotide variant not provided [RCV000961894] Chr8:109464547 [GRCh38]
Chr8:110476776 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1-23.2(chr8:109858221-110567774)x1 copy number loss not provided [RCV001006128] Chr8:109858221..110567774 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
NM_177531.6(PKHD1L1):c.9545T>C (p.Val3182Ala) single nucleotide variant not provided [RCV000947125] Chr8:109483074 [GRCh38]
Chr8:110495303 [GRCh37]
Chr8:8q23.1
benign
NM_177531.6(PKHD1L1):c.1119G>C (p.Trp373Cys) single nucleotide variant not provided [RCV000956657] Chr8:109400182 [GRCh38]
Chr8:110412411 [GRCh37]
Chr8:8q23.1
benign
NM_177531.6(PKHD1L1):c.2870C>A (p.Ala957Glu) single nucleotide variant not provided [RCV000956658] Chr8:109427026 [GRCh38]
Chr8:110439255 [GRCh37]
Chr8:8q23.1
benign
NM_177531.6(PKHD1L1):c.6841C>T (p.Leu2281=) single nucleotide variant not provided [RCV000956659] Chr8:109454819 [GRCh38]
Chr8:110467048 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20313 AgrOrtholog
COSMIC PKHD1L1 COSMIC
Ensembl Genes ENSG00000205038 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367655 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437376 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526472 UniProtKB/TrEMBL
Gene3D-CATH 2.160.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot
  2.60.40.420 UniProtKB/Swiss-Prot
GTEx ENSG00000205038 GTEx
HGNC ID HGNC:20313 ENTREZGENE
Human Proteome Map PKHD1L1 Human Proteome Map
InterPro Cupredoxin UniProtKB/Swiss-Prot
  G8_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_E-set UniProtKB/Swiss-Prot
  IPT_dom UniProtKB/Swiss-Prot
  PA14/GLEYA UniProtKB/Swiss-Prot
  PA14_dom UniProtKB/Swiss-Prot
  PbH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pectin_lyas_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pectin_lyase_fold/virulence UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKHDL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93035 UniProtKB/Swiss-Prot
NCBI Gene 93035 ENTREZGENE
OMIM 607843 OMIM
PANTHER PTHR46769:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PA14 UniProtKB/Swiss-Prot
  PF10162 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG UniProtKB/Swiss-Prot
PharmGKB PA134950222 PharmGKB
PROSITE PA14 UniProtKB/Swiss-Prot
  PS51484 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot
  PA14 UniProtKB/Swiss-Prot
  PbH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM01225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot
  SSF51126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot
UniProt H0YF65_HUMAN UniProtKB/TrEMBL
  L8E9A6_HUMAN UniProtKB/TrEMBL
  PKHL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q567P2 UniProtKB/Swiss-Prot
  Q9UF27 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-28 PKHD1L1  PKHD1 like 1    polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1  Symbol and/or name change 5135510 APPROVED