FRMPD1 (FERM and PDZ domain containing 1) - Rat Genome Database

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Gene: FRMPD1 (FERM and PDZ domain containing 1) Homo sapiens
Analyze
Symbol: FRMPD1
Name: FERM and PDZ domain containing 1
RGD ID: 1313132
HGNC Page HGNC:29159
Description: Involved in establishment of protein localization to membrane and regulation of G protein-coupled receptor signaling pathway. Located in cell cortex and plasma membrane. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FERM and PDZ domain-containing protein 1; FERM domain-containing protein 2; FRMD2; KIAA0967; MGC138833; RP11-263I4.1
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
GRCh38937,603,229 - 37,746,904 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl937,650,954 - 37,746,904 (+)EnsemblGRCh38hg38GRCh38
GRCh37937,603,226 - 37,746,901 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36937,641,052 - 37,736,901 (+)NCBINCBI36Build 36hg18NCBI36
Build 34937,641,051 - 37,736,901NCBI
Celera937,584,272 - 37,680,095 (+)NCBICelera
Cytogenetic Map9p13.2NCBI
HuRef937,603,099 - 37,698,949 (+)NCBIHuRef
CHM1_1937,652,768 - 37,748,636 (+)NCBICHM1_1
T2T-CHM13v2.0937,626,930 - 37,770,615 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Hepatoblastoma  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk. Samuelson DJ, et al., Proc Natl Acad Sci U S A. 2007 Apr 2; 104(15):6299-304.
Additional References at PubMed
PMID:10231032   PMID:12477932   PMID:18029348   PMID:18566450   PMID:19490893   PMID:20379614   PMID:21873635   PMID:22074847   PMID:23318951   PMID:23376485   PMID:25416956   PMID:25609649  
PMID:25786224   PMID:27872092   PMID:28611215  


Genomics

Comparative Map Data
FRMPD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38937,603,229 - 37,746,904 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl937,650,954 - 37,746,904 (+)EnsemblGRCh38hg38GRCh38
GRCh37937,603,226 - 37,746,901 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36937,641,052 - 37,736,901 (+)NCBINCBI36Build 36hg18NCBI36
Build 34937,641,051 - 37,736,901NCBI
Celera937,584,272 - 37,680,095 (+)NCBICelera
Cytogenetic Map9p13.2NCBI
HuRef937,603,099 - 37,698,949 (+)NCBIHuRef
CHM1_1937,652,768 - 37,748,636 (+)NCBICHM1_1
T2T-CHM13v2.0937,626,930 - 37,770,615 (+)NCBIT2T-CHM13v2.0
Frmpd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39445,183,958 - 45,285,936 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl445,184,875 - 45,285,936 (+)EnsemblGRCm39 Ensembl
GRCm38445,184,420 - 45,285,936 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl445,184,875 - 45,285,936 (+)EnsemblGRCm38mm10GRCm38
MGSCv37445,197,778 - 45,298,808 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36445,206,006 - 45,307,475 (+)NCBIMGSCv36mm8
Celera445,205,799 - 45,307,566 (+)NCBICelera
Cytogenetic Map4B1NCBI
cM Map423.77NCBI
Frmpd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8564,238,730 - 64,340,778 (+)NCBIGRCr8
mRatBN7.2559,443,076 - 59,545,125 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl559,443,076 - 59,545,080 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx561,417,025 - 61,519,412 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0563,236,550 - 63,338,911 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0563,205,781 - 63,308,130 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0560,735,413 - 60,837,773 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl560,809,762 - 60,837,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0565,243,896 - 65,346,330 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4561,748,052 - 61,849,848 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1561,792,640 - 61,849,904 (+)NCBI
Celera558,011,145 - 58,113,460 (+)NCBICelera
Cytogenetic Map5q22NCBI
Frmpd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541928,716,494 - 28,888,495 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541928,717,277 - 28,888,486 (-)NCBIChiLan1.0ChiLan1.0
FRMPD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21186,841,662 - 86,987,898 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1986,847,604 - 86,946,318 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0937,497,210 - 37,595,867 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1938,421,706 - 38,519,025 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl938,421,706 - 38,519,025 (+)Ensemblpanpan1.1panPan2
FRMPD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11153,901,625 - 54,051,885 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1153,939,807 - 54,051,756 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1152,402,723 - 52,477,822 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01155,010,993 - 55,161,059 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1155,021,901 - 55,161,057 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11153,509,177 - 53,659,218 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01153,538,813 - 53,688,852 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01154,234,835 - 54,385,113 (+)NCBIUU_Cfam_GSD_1.0
Frmpd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947168,836,752 - 169,009,535 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365245,469,422 - 5,557,117 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365245,469,495 - 5,557,109 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FRMPD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1238,371,336 - 238,511,715 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11238,371,311 - 238,511,714 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21266,330,435 - 266,446,687 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FRMPD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11242,835,352 - 42,981,017 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1242,835,350 - 42,980,486 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603839,902,811 - 40,001,686 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Frmpd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249301,268,904 - 1,364,230 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249301,268,527 - 1,364,017 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FRMPD1
94 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_014907.2(FRMPD1):c.612G>A (p.Lys204=) single nucleotide variant Malignant melanoma [RCV000068665] Chr9:37724320 [GRCh38]
Chr9:37724317 [GRCh37]
Chr9:37714317 [NCBI36]
Chr9:9p13.2		 not provided
NM_014907.2(FRMPD1):c.676C>T (p.Leu226=) single nucleotide variant Malignant melanoma [RCV000068666] Chr9:37729791 [GRCh38]
Chr9:37729788 [GRCh37]
Chr9:37719788 [NCBI36]
Chr9:9p13.2		 not provided
NM_014907.2(FRMPD1):c.2841G>A (p.Arg947=) single nucleotide variant Malignant melanoma [RCV000061944] Chr9:37744873 [GRCh38]
Chr9:37744870 [GRCh37]
Chr9:37734870 [NCBI36]
Chr9:9p13.2		 not provided
NM_014907.2(FRMPD1):c.2843T>A (p.Ile948Asn) single nucleotide variant Malignant melanoma [RCV000061945] Chr9:37744875 [GRCh38]
Chr9:37744872 [GRCh37]
Chr9:37734872 [NCBI36]
Chr9:9p13.2		 not provided
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_014907.3(FRMPD1):c.3392A>T (p.Lys1131Met) single nucleotide variant Inborn genetic diseases [RCV003299364] Chr9:37745424 [GRCh38]
Chr9:37745421 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_014907.3(FRMPD1):c.2434A>G (p.Ser812Gly) single nucleotide variant Inborn genetic diseases [RCV003287658] Chr9:37744466 [GRCh38]
Chr9:37744463 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4717C>T (p.Arg1573Trp) single nucleotide variant Inborn genetic diseases [RCV003302713] Chr9:37746749 [GRCh38]
Chr9:37746746 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4504G>T (p.Gly1502Cys) single nucleotide variant Inborn genetic diseases [RCV003282764] Chr9:37746536 [GRCh38]
Chr9:37746533 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3984G>C (p.Arg1328Ser) single nucleotide variant Inborn genetic diseases [RCV003263733] Chr9:37746016 [GRCh38]
Chr9:37746013 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4504G>A (p.Gly1502Ser) single nucleotide variant Inborn genetic diseases [RCV003281229] Chr9:37746536 [GRCh38]
Chr9:37746533 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.314A>G (p.Asn105Ser) single nucleotide variant Inborn genetic diseases [RCV003275994] Chr9:37708453 [GRCh38]
Chr9:37708450 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3013A>G (p.Thr1005Ala) single nucleotide variant Inborn genetic diseases [RCV003257708] Chr9:37745045 [GRCh38]
Chr9:37745042 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.2842A>G (p.Ile948Val) single nucleotide variant Inborn genetic diseases [RCV003239745] Chr9:37744874 [GRCh38]
Chr9:37744871 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_014907.3(FRMPD1):c.2361C>T (p.Pro787=) single nucleotide variant not provided [RCV000973702] Chr9:37744393 [GRCh38]
Chr9:37744390 [GRCh37]
Chr9:9p13.2		 benign|likely benign
NM_014907.3(FRMPD1):c.2882C>T (p.Ala961Val) single nucleotide variant not provided [RCV000947169] Chr9:37744914 [GRCh38]
Chr9:37744911 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.3408C>T (p.Ser1136=) single nucleotide variant not provided [RCV000947171] Chr9:37745440 [GRCh38]
Chr9:37745437 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.3411G>A (p.Pro1137=) single nucleotide variant not provided [RCV000947172] Chr9:37745443 [GRCh38]
Chr9:37745440 [GRCh37]
Chr9:9p13.2		 benign
NC_000009.12:g.(?_37422741)_(37785054_?)del deletion not provided [RCV000822552] Chr9:37422741..37785054 [GRCh38]
Chr9:37422738..37785051 [GRCh37]
Chr9:9p13.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3 copy number gain not provided [RCV001006238] Chr9:36539229..38787480 [GRCh37]
Chr9:9p13.2-13.1		 uncertain significance
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1 copy number loss Neurodevelopmental disorder [RCV001580194] Chr9:36088563..39092820 [GRCh37]
Chr9:9p13.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NM_014907.3(FRMPD1):c.2996T>C (p.Ile999Thr) single nucleotide variant Inborn genetic diseases [RCV003291996] Chr9:37745028 [GRCh38]
Chr9:37745025 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.4181C>T (p.Ser1394Leu) single nucleotide variant Inborn genetic diseases [RCV003241750] Chr9:37746213 [GRCh38]
Chr9:37746210 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3275G>A (p.Gly1092Glu) single nucleotide variant not provided [RCV000947170] Chr9:37745307 [GRCh38]
Chr9:37745304 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.3510C>T (p.Thr1170=) single nucleotide variant not provided [RCV000947173] Chr9:37745542 [GRCh38]
Chr9:37745539 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.3649G>A (p.Val1217Ile) single nucleotide variant not provided [RCV000947174] Chr9:37745681 [GRCh38]
Chr9:37745678 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.3660C>T (p.Ala1220=) single nucleotide variant not provided [RCV000947175] Chr9:37745692 [GRCh38]
Chr9:37745689 [GRCh37]
Chr9:9p13.2		 benign
NM_014907.3(FRMPD1):c.1244C>T (p.Ala415Val) single nucleotide variant Inborn genetic diseases [RCV003295163] Chr9:37735577 [GRCh38]
Chr9:37735574 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1 copy number loss Neurodevelopmental disorder [RCV001580192] Chr9:36426622..38787479 [GRCh37]
Chr9:9p13.2-13.1		 pathogenic
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1 copy number loss Neurodevelopmental disorder [RCV001580193] Chr9:36442195..39156958 [GRCh37]
Chr9:9p13.2-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p13.2(chr9:37313084-37716205)x3 copy number gain See cases [RCV002285072] Chr9:37313084..37716205 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p13.2(chr9:37628789-37999486) copy number loss not specified [RCV002053852] Chr9:37628789..37999486 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p13.2(chr9:37650202-37736893)x1 copy number loss not provided [RCV001829058] Chr9:37650202..37736893 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His) single nucleotide variant Hepatoblastoma [RCV001843910] Chr9:37731015 [GRCh38]
Chr9:37731012 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_014907.3(FRMPD1):c.3370G>A (p.Val1124Ile) single nucleotide variant Inborn genetic diseases [RCV002683975] Chr9:37745402 [GRCh38]
Chr9:37745399 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.4592A>G (p.Tyr1531Cys) single nucleotide variant Inborn genetic diseases [RCV002991058] Chr9:37746624 [GRCh38]
Chr9:37746621 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2995A>G (p.Ile999Val) single nucleotide variant Inborn genetic diseases [RCV002860335] Chr9:37745027 [GRCh38]
Chr9:37745024 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.64G>A (p.Ala22Thr) single nucleotide variant Inborn genetic diseases [RCV002688827] Chr9:37692705 [GRCh38]
Chr9:37692702 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4650T>G (p.Ser1550Arg) single nucleotide variant Inborn genetic diseases [RCV002794233] Chr9:37746682 [GRCh38]
Chr9:37746679 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2849C>A (p.Pro950His) single nucleotide variant Inborn genetic diseases [RCV002728737] Chr9:37744881 [GRCh38]
Chr9:37744878 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1603G>A (p.Val535Ile) single nucleotide variant Inborn genetic diseases [RCV002684842] Chr9:37740131 [GRCh38]
Chr9:37740128 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4717C>G (p.Arg1573Gly) single nucleotide variant Inborn genetic diseases [RCV002968678] Chr9:37746749 [GRCh38]
Chr9:37746746 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3375T>G (p.Phe1125Leu) single nucleotide variant Inborn genetic diseases [RCV002879863] Chr9:37745407 [GRCh38]
Chr9:37745404 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.478C>G (p.His160Asp) single nucleotide variant Inborn genetic diseases [RCV002905527] Chr9:37719138 [GRCh38]
Chr9:37719135 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2110G>A (p.Ala704Thr) single nucleotide variant Inborn genetic diseases [RCV002945811] Chr9:37740638 [GRCh38]
Chr9:37740635 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.1447T>A (p.Cys483Ser) single nucleotide variant Inborn genetic diseases [RCV002779341] Chr9:37737141 [GRCh38]
Chr9:37737138 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2351C>T (p.Pro784Leu) single nucleotide variant Inborn genetic diseases [RCV002682754] Chr9:37740879 [GRCh38]
Chr9:37740876 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.137A>T (p.Asn46Ile) single nucleotide variant Inborn genetic diseases [RCV002976963] Chr9:37707451 [GRCh38]
Chr9:37707448 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.274G>A (p.Gly92Ser) single nucleotide variant Inborn genetic diseases [RCV002870603] Chr9:37708413 [GRCh38]
Chr9:37708410 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1316C>T (p.Ala439Val) single nucleotide variant Inborn genetic diseases [RCV002758205] Chr9:37735649 [GRCh38]
Chr9:37735646 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1627C>T (p.Arg543Cys) single nucleotide variant Inborn genetic diseases [RCV002659759] Chr9:37740155 [GRCh38]
Chr9:37740152 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4720G>T (p.Ala1574Ser) single nucleotide variant Inborn genetic diseases [RCV002911500] Chr9:37746752 [GRCh38]
Chr9:37746749 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3197A>G (p.Glu1066Gly) single nucleotide variant Inborn genetic diseases [RCV002783686] Chr9:37745229 [GRCh38]
Chr9:37745226 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3722C>T (p.Pro1241Leu) single nucleotide variant Inborn genetic diseases [RCV002887162] Chr9:37745754 [GRCh38]
Chr9:37745751 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1147C>T (p.Arg383Cys) single nucleotide variant Inborn genetic diseases [RCV002954776] Chr9:37733754 [GRCh38]
Chr9:37733751 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3871G>A (p.Ala1291Thr) single nucleotide variant Inborn genetic diseases [RCV002827948] Chr9:37745903 [GRCh38]
Chr9:37745900 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4457T>C (p.Met1486Thr) single nucleotide variant Inborn genetic diseases [RCV002666251] Chr9:37746489 [GRCh38]
Chr9:37746486 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1548A>C (p.Glu516Asp) single nucleotide variant Inborn genetic diseases [RCV002954933] Chr9:37737242 [GRCh38]
Chr9:37737239 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4420C>T (p.Arg1474Trp) single nucleotide variant Inborn genetic diseases [RCV002696464] Chr9:37746452 [GRCh38]
Chr9:37746449 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4359G>T (p.Trp1453Cys) single nucleotide variant Inborn genetic diseases [RCV002745182] Chr9:37746391 [GRCh38]
Chr9:37746388 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3608A>C (p.Glu1203Ala) single nucleotide variant Inborn genetic diseases [RCV002804291] Chr9:37745640 [GRCh38]
Chr9:37745637 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4013T>C (p.Phe1338Ser) single nucleotide variant Inborn genetic diseases [RCV002804194] Chr9:37746045 [GRCh38]
Chr9:37746042 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2632G>T (p.Gly878Cys) single nucleotide variant Inborn genetic diseases [RCV002892311] Chr9:37744664 [GRCh38]
Chr9:37744661 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1762G>A (p.Glu588Lys) single nucleotide variant Inborn genetic diseases [RCV002809285] Chr9:37740290 [GRCh38]
Chr9:37740287 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4562C>T (p.Ala1521Val) single nucleotide variant Inborn genetic diseases [RCV002960389] Chr9:37746594 [GRCh38]
Chr9:37746591 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1877C>T (p.Thr626Ile) single nucleotide variant Inborn genetic diseases [RCV003008789] Chr9:37740405 [GRCh38]
Chr9:37740402 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1739G>T (p.Ser580Ile) single nucleotide variant Inborn genetic diseases [RCV002940257] Chr9:37740267 [GRCh38]
Chr9:37740264 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1781A>C (p.Asn594Thr) single nucleotide variant Inborn genetic diseases [RCV002717929] Chr9:37740309 [GRCh38]
Chr9:37740306 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2705T>C (p.Leu902Ser) single nucleotide variant Inborn genetic diseases [RCV002792675] Chr9:37744737 [GRCh38]
Chr9:37744734 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4619C>T (p.Ser1540Leu) single nucleotide variant Inborn genetic diseases [RCV002920315] Chr9:37746651 [GRCh38]
Chr9:37746648 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.1945G>A (p.Gly649Arg) single nucleotide variant Inborn genetic diseases [RCV002988931] Chr9:37740473 [GRCh38]
Chr9:37740470 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.4420C>G (p.Arg1474Gly) single nucleotide variant Inborn genetic diseases [RCV002936006] Chr9:37746452 [GRCh38]
Chr9:37746449 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2173A>C (p.Ser725Arg) single nucleotide variant Inborn genetic diseases [RCV002713843] Chr9:37740701 [GRCh38]
Chr9:37740698 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2026G>A (p.Glu676Lys) single nucleotide variant Inborn genetic diseases [RCV002648881] Chr9:37740554 [GRCh38]
Chr9:37740551 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3472G>A (p.Val1158Ile) single nucleotide variant Inborn genetic diseases [RCV002896227] Chr9:37745504 [GRCh38]
Chr9:37745501 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.2070C>A (p.Ser690Arg) single nucleotide variant Inborn genetic diseases [RCV002747796] Chr9:37740598 [GRCh38]
Chr9:37740595 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4124C>G (p.Pro1375Arg) single nucleotide variant Inborn genetic diseases [RCV002836281] Chr9:37746156 [GRCh38]
Chr9:37746153 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.1396G>A (p.Val466Ile) single nucleotide variant Inborn genetic diseases [RCV002960405] Chr9:37735729 [GRCh38]
Chr9:37735726 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.1612C>G (p.Pro538Ala) single nucleotide variant Inborn genetic diseases [RCV003177934] Chr9:37740140 [GRCh38]
Chr9:37740137 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.658G>A (p.Glu220Lys) single nucleotide variant Inborn genetic diseases [RCV003179021] Chr9:37729773 [GRCh38]
Chr9:37729770 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.2918A>G (p.Asn973Ser) single nucleotide variant Inborn genetic diseases [RCV003180263] Chr9:37744950 [GRCh38]
Chr9:37744947 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.77G>A (p.Arg26Gln) single nucleotide variant Inborn genetic diseases [RCV003174036] Chr9:37692718 [GRCh38]
Chr9:37692715 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.3023A>G (p.His1008Arg) single nucleotide variant Inborn genetic diseases [RCV003212724] Chr9:37745055 [GRCh38]
Chr9:37745052 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.263G>T (p.Gly88Val) single nucleotide variant Inborn genetic diseases [RCV003178540] Chr9:37708402 [GRCh38]
Chr9:37708399 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.73C>G (p.Leu25Val) single nucleotide variant Inborn genetic diseases [RCV003260380] Chr9:37692714 [GRCh38]
Chr9:37692711 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1814C>T (p.Ser605Leu) single nucleotide variant Inborn genetic diseases [RCV003197680] Chr9:37740342 [GRCh38]
Chr9:37740339 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1766C>A (p.Ala589Glu) single nucleotide variant Inborn genetic diseases [RCV003265525] Chr9:37740294 [GRCh38]
Chr9:37740291 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4649G>A (p.Ser1550Asn) single nucleotide variant Inborn genetic diseases [RCV003338368] Chr9:37746681 [GRCh38]
Chr9:37746678 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4430T>C (p.Ile1477Thr) single nucleotide variant Inborn genetic diseases [RCV003378929] Chr9:37746462 [GRCh38]
Chr9:37746459 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4382G>A (p.Arg1461His) single nucleotide variant Inborn genetic diseases [RCV003344499] Chr9:37746414 [GRCh38]
Chr9:37746411 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1445C>T (p.Ala482Val) single nucleotide variant Inborn genetic diseases [RCV003381536] Chr9:37737139 [GRCh38]
Chr9:37737136 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.76C>T (p.Arg26Trp) single nucleotide variant Inborn genetic diseases [RCV003378042] Chr9:37692717 [GRCh38]
Chr9:37692714 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.1469G>T (p.Arg490Met) single nucleotide variant Inborn genetic diseases [RCV003386487] Chr9:37737163 [GRCh38]
Chr9:37737160 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4727C>T (p.Thr1576Met) single nucleotide variant Inborn genetic diseases [RCV003356213] Chr9:37746759 [GRCh38]
Chr9:37746756 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4484A>T (p.Gln1495Leu) single nucleotide variant Inborn genetic diseases [RCV003374681] Chr9:37746516 [GRCh38]
Chr9:37746513 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.4434A>T (p.Arg1478Ser) single nucleotide variant Inborn genetic diseases [RCV003383615] Chr9:37746466 [GRCh38]
Chr9:37746463 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.844T>C (p.Tyr282His) single nucleotide variant Inborn genetic diseases [RCV003369613] Chr9:37731089 [GRCh38]
Chr9:37731086 [GRCh37]
Chr9:9p13.2		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_014907.3(FRMPD1):c.2536T>G (p.Tyr846Asp) single nucleotide variant not provided [RCV003435784] Chr9:37744568 [GRCh38]
Chr9:37744565 [GRCh37]
Chr9:9p13.2		 likely benign
NM_014907.3(FRMPD1):c.1527G>A (p.Ala509=) single nucleotide variant not provided [RCV003425664] Chr9:37737221 [GRCh38]
Chr9:37737218 [GRCh37]
Chr9:9p13.2		 likely benign
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1		 likely pathogenic
NM_014907.3(FRMPD1):c.95C>T (p.Ser32Leu) single nucleotide variant Inborn genetic diseases [RCV003344672] Chr9:37692736 [GRCh38]
Chr9:37692733 [GRCh37]
Chr9:9p13.2		 uncertain significance
NM_014907.3(FRMPD1):c.404C>T (p.Thr135Met) single nucleotide variant Inborn genetic diseases [RCV003342376] Chr9:37711391 [GRCh38]
Chr9:37711388 [GRCh37]
Chr9:9p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1350
Count of miRNA genes:557
Interacting mature miRNAs:647
Transcripts:ENST00000359927, ENST00000377765, ENST00000536622, ENST00000539465, ENST00000541302
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH92430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,746,635 - 37,746,771UniSTSGRCh37
Build 36937,736,635 - 37,736,771RGDNCBI36
Celera937,679,829 - 37,679,965RGD
Cytogenetic Map9p13.2UniSTS
HuRef937,698,683 - 37,698,819UniSTS
GeneMap99-GB4 RH Map9148.92UniSTS
SHGC-147751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,678,803 - 37,679,129UniSTSGRCh37
Build 36937,668,803 - 37,669,129RGDNCBI36
Celera937,612,022 - 37,612,348RGD
Cytogenetic Map9p13.2UniSTS
HuRef937,630,805 - 37,631,131UniSTS
TNG Radiation Hybrid Map920284.0UniSTS
SHGC-154297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,668,549 - 37,668,867UniSTSGRCh37
Build 36937,658,549 - 37,658,867RGDNCBI36
Celera937,601,768 - 37,602,086RGD
Cytogenetic Map9p13.2UniSTS
HuRef937,620,552 - 37,620,870UniSTS
TNG Radiation Hybrid Map920291.0UniSTS
SHGC-144715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,719,511 - 37,719,802UniSTSGRCh37
Build 36937,709,511 - 37,709,802RGDNCBI36
Celera937,652,718 - 37,653,009RGD
Cytogenetic Map9p13.2UniSTS
HuRef937,671,585 - 37,671,876UniSTS
TNG Radiation Hybrid Map920307.0UniSTS
FRMPD1__6756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37937,746,031 - 37,746,954UniSTSGRCh37
Build 36937,736,031 - 37,736,954RGDNCBI36
Celera937,679,225 - 37,680,148RGD
HuRef937,698,079 - 37,699,002UniSTS
D5S1557E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375153,313,216 - 153,313,327UniSTSGRCh37
Build 365153,293,409 - 153,293,520RGDNCBI36
Celera5149,388,753 - 149,388,864RGD
HuRef937,624,812 - 37,624,921UniSTS
HuRef5148,454,152 - 148,454,263UniSTS


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
High
Medium 1 6 5 6 5 97 2 7 367 9 1 55
Low 475 176 486 238 160 146 2210 733 2934 139 243 196 95 1 330 1455 3
Below cutoff 1926 2142 1171 354 1195 290 1817 1436 767 246 740 1333 74 849 1080 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001371223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359927   ⟹   ENSP00000439868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl937,669,778 - 37,707,502 (+)Ensembl
RefSeq Acc Id: ENST00000377765   ⟹   ENSP00000366995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl937,650,954 - 37,746,904 (+)Ensembl
RefSeq Acc Id: ENST00000539465   ⟹   ENSP00000444411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl937,668,005 - 37,746,904 (+)Ensembl
RefSeq Acc Id: NM_001371223   ⟹   NP_001358152
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,668,009 - 37,746,904 (+)NCBI
T2T-CHM13v2.0937,691,739 - 37,770,615 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371224   ⟹   NP_001358153
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,603,229 - 37,746,904 (+)NCBI
T2T-CHM13v2.0937,626,930 - 37,770,615 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371225   ⟹   NP_001358154
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,603,229 - 37,746,904 (+)NCBI
T2T-CHM13v2.0937,626,930 - 37,770,615 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014907   ⟹   NP_055722
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,650,954 - 37,746,904 (+)NCBI
GRCh37937,651,052 - 37,746,901 (+)RGD
Build 36937,641,052 - 37,736,901 (+)NCBI Archive
Celera937,584,272 - 37,680,095 (+)RGD
HuRef937,603,099 - 37,698,949 (+)ENTREZGENE
CHM1_1937,652,768 - 37,748,636 (+)NCBI
T2T-CHM13v2.0937,674,678 - 37,770,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517805   ⟹   XP_011516107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,650,954 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517806   ⟹   XP_011516108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,715,761 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014481   ⟹   XP_016869970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,714,922 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014482   ⟹   XP_016869971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,668,009 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447454   ⟹   XP_024303222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,715,761 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447456   ⟹   XP_024303224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,715,761 - 37,746,904 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423003   ⟹   XP_047278959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,618,847 - 37,746,904 (+)NCBI
RefSeq Acc Id: XM_047423004   ⟹   XP_047278960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,717,219 - 37,746,904 (+)NCBI
RefSeq Acc Id: XM_054362377   ⟹   XP_054218352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,642,553 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362378   ⟹   XP_054218353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,738,624 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362379   ⟹   XP_054218354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,674,678 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362380   ⟹   XP_054218355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,691,739 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362381   ⟹   XP_054218356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,739,463 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362382   ⟹   XP_054218357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,739,463 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362383   ⟹   XP_054218358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,740,921 - 37,770,615 (+)NCBI
RefSeq Acc Id: XM_054362384   ⟹   XP_054218359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,739,463 - 37,770,615 (+)NCBI
RefSeq Acc Id: XR_008487967
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0937,674,678 - 37,770,615 (+)NCBI
RefSeq Acc Id: XR_929220
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,650,954 - 37,746,904 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001358152 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358153 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358154 (Get FASTA)   NCBI Sequence Viewer  
  NP_055722 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516107 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516108 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869970 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869971 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303222 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303224 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278959 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218352 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218353 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218354 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218355 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218356 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218357 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218359 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI14966 (Get FASTA)   NCBI Sequence Viewer  
  BAA76811 (Get FASTA)   NCBI Sequence Viewer  
  BAG64040 (Get FASTA)   NCBI Sequence Viewer  
  BAH13793 (Get FASTA)   NCBI Sequence Viewer  
  CAI46019 (Get FASTA)   NCBI Sequence Viewer  
  EAW58270 (Get FASTA)   NCBI Sequence Viewer  
  EAW58271 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366995
  ENSP00000366995.3
  ENSP00000439868.1
  ENSP00000444411
  ENSP00000444411.1
GenBank Protein Q5SYB0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055722   ⟸   NM_014907
- UniProtKB: Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot),   Q5SYB0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516107   ⟸   XM_011517805
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011516108   ⟸   XM_011517806
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869971   ⟸   XM_017014482
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869970   ⟸   XM_017014481
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303222   ⟸   XM_024447454
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024303224   ⟸   XM_024447456
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001358153   ⟸   NM_001371224
- UniProtKB: Q5SYB0 (UniProtKB/Swiss-Prot),   Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001358154   ⟸   NM_001371225
- UniProtKB: Q5SYB0 (UniProtKB/Swiss-Prot),   Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001358152   ⟸   NM_001371223
- UniProtKB: Q5SYB0 (UniProtKB/Swiss-Prot),   Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000439868   ⟸   ENST00000359927
RefSeq Acc Id: ENSP00000366995   ⟸   ENST00000377765
RefSeq Acc Id: ENSP00000444411   ⟸   ENST00000539465
RefSeq Acc Id: XP_047278959   ⟸   XM_047423003
- Peptide Label: isoform X1
- UniProtKB: Q5SYB0 (UniProtKB/Swiss-Prot),   Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278960   ⟸   XM_047423004
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218352   ⟸   XM_054362377
- Peptide Label: isoform X1
- UniProtKB: Q5SYB0 (UniProtKB/Swiss-Prot),   Q5HY96 (UniProtKB/Swiss-Prot),   Q14C73 (UniProtKB/Swiss-Prot),   D3DRQ3 (UniProtKB/Swiss-Prot),   B7Z807 (UniProtKB/Swiss-Prot),   B4DZC8 (UniProtKB/Swiss-Prot),   Q9Y2H3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054218354   ⟸   XM_054362379
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218355   ⟸   XM_054362380
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218353   ⟸   XM_054362378
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218357   ⟸   XM_054362382
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218356   ⟸   XM_054362381
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218359   ⟸   XM_054362384
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218358   ⟸   XM_054362383
- Peptide Label: isoform X5
Protein Domains
FERM   PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5SYB0-F1-model_v2 AlphaFold Q5SYB0 1-1578 view protein structure

Promoters
RGD ID:7215093
Promoter ID:EPDNEW_H13293
Type:initiation region
Name:FRMPD1_1
Description:FERM and PDZ domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13294  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,650,976 - 37,651,036EPDNEW
RGD ID:7215097
Promoter ID:EPDNEW_H13294
Type:single initiation site
Name:FRMPD1_2
Description:FERM and PDZ domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13293  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38937,679,124 - 37,679,184EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29159 AgrOrtholog
COSMIC FRMPD1 COSMIC
Ensembl Genes ENSG00000070601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359927.3 UniProtKB/TrEMBL
  ENST00000377765 ENTREZGENE
  ENST00000377765.8 UniProtKB/Swiss-Prot
  ENST00000539465 ENTREZGENE
  ENST00000539465.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot
  2.30.29.30 UniProtKB/Swiss-Prot
  2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000070601 GTEx
HGNC ID HGNC:29159 ENTREZGENE
Human Proteome Map FRMPD1 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot
  FAK1-like_FERM_C UniProtKB/Swiss-Prot
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot
  FERM_2 UniProtKB/Swiss-Prot
  FERM_central UniProtKB/Swiss-Prot
  FERM_domain UniProtKB/Swiss-Prot
  FRMPD1/3/4_FERM_C UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot
KEGG Report hsa:22844 UniProtKB/Swiss-Prot
NCBI Gene 22844 ENTREZGENE
OMIM 616919 OMIM
PANTHER FERM AND PDZ DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER UniProtKB/Swiss-Prot
Pfam FERM_C_FAK1 UniProtKB/Swiss-Prot
  FERM_M UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
PharmGKB PA134910182 PharmGKB
PROSITE FERM_3 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
SMART B41 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF47031 UniProtKB/Swiss-Prot
  SSF50156 UniProtKB/Swiss-Prot
  SSF54236 UniProtKB/Swiss-Prot
UniProt B4DZC8 ENTREZGENE
  B7Z807 ENTREZGENE
  D3DRQ3 ENTREZGENE
  F5H0G3_HUMAN UniProtKB/TrEMBL
  FRPD1_HUMAN UniProtKB/Swiss-Prot
  Q14C73 ENTREZGENE
  Q5HY96 ENTREZGENE
  Q5SYB0 ENTREZGENE
  Q9Y2H3 ENTREZGENE
UniProt Secondary B4DZC8 UniProtKB/Swiss-Prot
  B7Z807 UniProtKB/Swiss-Prot
  D3DRQ3 UniProtKB/Swiss-Prot
  Q14C73 UniProtKB/Swiss-Prot
  Q5HY96 UniProtKB/Swiss-Prot
  Q9Y2H3 UniProtKB/Swiss-Prot