FHDC1 (FH2 domain containing 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: FHDC1 (FH2 domain containing 1) Homo sapiens
Analyze
Symbol: FHDC1
Name: FH2 domain containing 1
RGD ID: 1604560
HGNC Page HGNC:29363
Description: Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FH2 domain-containing protein 1; INF1; inverted formin-1; KIAA1727
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
GRCh384152,911,339 - 152,979,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4152,936,323 - 152,979,671 (+)EnsemblGRCh38hg38GRCh38
GRCh374153,857,475 - 153,900,823 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364154,083,585 - 154,120,298 (+)NCBINCBI36Build 36hg18NCBI36
Celera4151,189,210 - 151,225,925 (+)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4149,590,362 - 149,627,026 (+)NCBIHuRef
CHM1_14153,842,131 - 153,878,844 (+)NCBICHM1_1
T2T-CHM13v2.04156,234,537 - 156,302,882 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
actin filament  (IBA)
cell projection  (IEA)
cilium  (IDA,IEA)
cytoplasmic microtubule  (IEA,ISS)
Golgi apparatus  (IEA,ISS)
microtubule  (IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:11214970   PMID:14702039   PMID:15138637   PMID:16341674   PMID:16751776   PMID:17362836   PMID:18815276   PMID:21873635   PMID:23251661   PMID:26564798   PMID:29507755  
PMID:29742020   PMID:30021884   PMID:35524876   PMID:36732658  


Genomics

Comparative Map Data
FHDC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384152,911,339 - 152,979,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4152,936,323 - 152,979,671 (+)EnsemblGRCh38hg38GRCh38
GRCh374153,857,475 - 153,900,823 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364154,083,585 - 154,120,298 (+)NCBINCBI36Build 36hg18NCBI36
Celera4151,189,210 - 151,225,925 (+)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4149,590,362 - 149,627,026 (+)NCBIHuRef
CHM1_14153,842,131 - 153,878,844 (+)NCBICHM1_1
T2T-CHM13v2.04156,234,537 - 156,302,882 (+)NCBIT2T-CHM13v2.0
Fhdc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39384,349,503 - 84,387,746 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl384,349,505 - 84,387,736 (-)EnsemblGRCm39 Ensembl
GRCm38384,442,191 - 84,480,439 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl384,442,198 - 84,480,429 (-)EnsemblGRCm38mm10GRCm38
MGSCv37384,247,947 - 84,284,351 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36384,529,965 - 84,566,356 (-)NCBIMGSCv36mm8
Celera384,454,439 - 84,490,446 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map337.67NCBI
Fhdc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82172,088,987 - 172,127,838 (-)NCBIGRCr8
mRatBN7.22169,790,917 - 169,829,580 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2169,790,947 - 169,827,896 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2176,970,048 - 177,006,978 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02174,989,950 - 175,026,878 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02169,591,466 - 169,628,394 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02183,450,608 - 183,487,820 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2183,450,619 - 183,487,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02202,860,601 - 202,896,104 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42176,220,901 - 176,258,572 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12176,171,034 - 176,203,931 (-)NCBI
Celera2163,790,155 - 163,826,877 (-)NCBICelera
Cytogenetic Map2q34NCBI
Fhdc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554717,368,086 - 7,399,431 (+)NCBIChiLan1.0ChiLan1.0
FHDC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23150,799,452 - 150,866,199 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14151,157,379 - 151,221,645 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04145,252,573 - 145,320,558 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14156,925,332 - 156,969,033 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4156,932,390 - 156,966,068 (+)Ensemblpanpan1.1panPan2
FHDC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11550,775,989 - 50,818,188 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1550,775,431 - 50,815,844 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1551,122,567 - 51,164,880 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01551,462,577 - 51,504,908 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1551,469,943 - 51,504,911 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11550,721,559 - 50,761,584 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01550,825,389 - 50,864,084 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01551,136,361 - 51,177,706 (+)NCBIUU_Cfam_GSD_1.0
Fhdc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530139,694,918 - 39,732,306 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366892,803,739 - 2,838,255 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366892,803,714 - 2,836,903 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FHDC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl876,106,192 - 76,143,682 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1876,103,631 - 76,148,690 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2880,673,505 - 80,716,853 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FHDC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1799,489,395 - 99,531,571 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl799,497,326 - 99,534,096 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603779,140,692 - 79,182,217 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fhdc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248584,316,522 - 4,348,132 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248584,310,001 - 4,349,108 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FHDC1
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001371116.1(FHDC1):c.3355G>A (p.Gly1119Arg) single nucleotide variant Inborn genetic diseases [RCV002836466] Chr4:152976646 [GRCh38]
Chr4:153897798 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1 copy number loss See cases [RCV000139726] Chr4:152519348..153381536 [GRCh38]
Chr4:153440500..154302688 [GRCh37]
Chr4:153659950..154522138 [NCBI36]
Chr4:4q31.3		 uncertain significance
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001371116.1(FHDC1):c.2774G>C (p.Arg925Pro) single nucleotide variant Inborn genetic diseases [RCV003285893] Chr4:152976065 [GRCh38]
Chr4:153897217 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3(chr4:153895986-153896643)x1 copy number loss not provided [RCV000744062] Chr4:153895986..153896643 [GRCh37]
Chr4:4q31.3		 benign
GRCh37/hg19 4q31.3(chr4:153895986-153896656)x1 copy number loss not provided [RCV000744063] Chr4:153895986..153896656 [GRCh37]
Chr4:4q31.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001371116.1(FHDC1):c.3247A>G (p.Ser1083Gly) single nucleotide variant not provided [RCV000958763] Chr4:152976538 [GRCh38]
Chr4:153897690 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.2200A>T (p.Ser734Cys) single nucleotide variant not provided [RCV000880433] Chr4:152975491 [GRCh38]
Chr4:153896643 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.2539G>A (p.Gly847Ser) single nucleotide variant not provided [RCV000953214] Chr4:152975830 [GRCh38]
Chr4:153896982 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.2248G>A (p.Gly750Arg) single nucleotide variant not provided [RCV000919820] Chr4:152975539 [GRCh38]
Chr4:153896691 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001371116.1(FHDC1):c.1872C>T (p.Ala624=) single nucleotide variant not provided [RCV000965680] Chr4:152975163 [GRCh38]
Chr4:153896315 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.1856C>A (p.Ala619Glu) single nucleotide variant not provided [RCV000880432] Chr4:152975147 [GRCh38]
Chr4:153896299 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.1543C>A (p.Leu515Met) single nucleotide variant not provided [RCV000964972] Chr4:152974834 [GRCh38]
Chr4:153895986 [GRCh37]
Chr4:4q31.3		 benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_001371116.1(FHDC1):c.1955C>T (p.Pro652Leu) single nucleotide variant Inborn genetic diseases [RCV003240678] Chr4:152975246 [GRCh38]
Chr4:153896398 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1260A>G (p.Gln420=) single nucleotide variant not provided [RCV000958762] Chr4:152972418 [GRCh38]
Chr4:153893570 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.1995A>T (p.Pro665=) single nucleotide variant not provided [RCV000892639] Chr4:152975286 [GRCh38]
Chr4:153896438 [GRCh37]
Chr4:4q31.3		 benign
NM_001371116.1(FHDC1):c.1995A>G (p.Pro665=) single nucleotide variant Inborn genetic diseases [RCV003279149]|not provided [RCV000908701] Chr4:152975286 [GRCh38]
Chr4:153896438 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001371116.1(FHDC1):c.1077G>A (p.Leu359=) single nucleotide variant not provided [RCV000975053] Chr4:152964952 [GRCh38]
Chr4:153886104 [GRCh37]
Chr4:4q31.3		 benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
NM_001371116.1(FHDC1):c.125C>T (p.Pro42Leu) single nucleotide variant Inborn genetic diseases [RCV003285660] Chr4:152943182 [GRCh38]
Chr4:153864334 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1318A>G (p.Met440Val) single nucleotide variant Inborn genetic diseases [RCV002990252] Chr4:152972476 [GRCh38]
Chr4:153893628 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1370A>G (p.Asn457Ser) single nucleotide variant Inborn genetic diseases [RCV002777179] Chr4:152972528 [GRCh38]
Chr4:153893680 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2668T>G (p.Ser890Ala) single nucleotide variant Inborn genetic diseases [RCV002989958] Chr4:152975959 [GRCh38]
Chr4:153897111 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2623T>G (p.Ser875Ala) single nucleotide variant Inborn genetic diseases [RCV002773886] Chr4:152975914 [GRCh38]
Chr4:153897066 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1453C>T (p.Arg485Cys) single nucleotide variant Inborn genetic diseases [RCV002753887] Chr4:152974744 [GRCh38]
Chr4:153895896 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.250C>T (p.His84Tyr) single nucleotide variant Inborn genetic diseases [RCV002865281] Chr4:152943307 [GRCh38]
Chr4:153864459 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.3374G>A (p.Arg1125His) single nucleotide variant Inborn genetic diseases [RCV002729499] Chr4:152976665 [GRCh38]
Chr4:153897817 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.3073G>A (p.Val1025Ile) single nucleotide variant Inborn genetic diseases [RCV002993301] Chr4:152976364 [GRCh38]
Chr4:153897516 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001371116.1(FHDC1):c.2108C>T (p.Pro703Leu) single nucleotide variant Inborn genetic diseases [RCV002682598] Chr4:152975399 [GRCh38]
Chr4:153896551 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2635A>C (p.Ser879Arg) single nucleotide variant Inborn genetic diseases [RCV002753101] Chr4:152975926 [GRCh38]
Chr4:153897078 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1601C>G (p.Pro534Arg) single nucleotide variant Inborn genetic diseases [RCV002981284] Chr4:152974892 [GRCh38]
Chr4:153896044 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2581G>C (p.Ala861Pro) single nucleotide variant Inborn genetic diseases [RCV002662072] Chr4:152975872 [GRCh38]
Chr4:153897024 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2153G>A (p.Ser718Asn) single nucleotide variant Inborn genetic diseases [RCV002924948] Chr4:152975444 [GRCh38]
Chr4:153896596 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2197G>A (p.Gly733Arg) single nucleotide variant Inborn genetic diseases [RCV002912402] Chr4:152975488 [GRCh38]
Chr4:153896640 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.752A>G (p.Tyr251Cys) single nucleotide variant Inborn genetic diseases [RCV002911086] Chr4:152960746 [GRCh38]
Chr4:153881898 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.286C>T (p.Arg96Trp) single nucleotide variant Inborn genetic diseases [RCV002660213] Chr4:152943343 [GRCh38]
Chr4:153864495 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2626A>C (p.Lys876Gln) single nucleotide variant Inborn genetic diseases [RCV002692603] Chr4:152975917 [GRCh38]
Chr4:153897069 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2389G>T (p.Asp797Tyr) single nucleotide variant Inborn genetic diseases [RCV002693938] Chr4:152975680 [GRCh38]
Chr4:153896832 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2697C>G (p.Asn899Lys) single nucleotide variant Inborn genetic diseases [RCV002911113] Chr4:152975988 [GRCh38]
Chr4:153897140 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1393G>A (p.Asp465Asn) single nucleotide variant Inborn genetic diseases [RCV002951403] Chr4:152974684 [GRCh38]
Chr4:153895836 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.613G>A (p.Gly205Arg) single nucleotide variant Inborn genetic diseases [RCV002978315] Chr4:152954269 [GRCh38]
Chr4:153875421 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2236C>T (p.Pro746Ser) single nucleotide variant Inborn genetic diseases [RCV003006965] Chr4:152975527 [GRCh38]
Chr4:153896679 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1991C>T (p.Ser664Leu) single nucleotide variant Inborn genetic diseases [RCV002874025] Chr4:152975282 [GRCh38]
Chr4:153896434 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2393C>T (p.Pro798Leu) single nucleotide variant Inborn genetic diseases [RCV002873058] Chr4:152975684 [GRCh38]
Chr4:153896836 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2006G>T (p.Gly669Val) single nucleotide variant Inborn genetic diseases [RCV002665543] Chr4:152975297 [GRCh38]
Chr4:153896449 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1613G>A (p.Arg538His) single nucleotide variant Inborn genetic diseases [RCV002874480] Chr4:152974904 [GRCh38]
Chr4:153896056 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2198G>T (p.Gly733Val) single nucleotide variant Inborn genetic diseases [RCV002763432] Chr4:152975489 [GRCh38]
Chr4:153896641 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2410G>A (p.Gly804Arg) single nucleotide variant Inborn genetic diseases [RCV002893558] Chr4:152975701 [GRCh38]
Chr4:153896853 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.3041A>C (p.Lys1014Thr) single nucleotide variant Inborn genetic diseases [RCV002853826] Chr4:152976332 [GRCh38]
Chr4:153897484 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2621C>G (p.Ala874Gly) single nucleotide variant Inborn genetic diseases [RCV002767824] Chr4:152975912 [GRCh38]
Chr4:153897064 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1697A>G (p.Asn566Ser) single nucleotide variant Inborn genetic diseases [RCV002787028] Chr4:152974988 [GRCh38]
Chr4:153896140 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1831G>A (p.Ala611Thr) single nucleotide variant Inborn genetic diseases [RCV002789491] Chr4:152975122 [GRCh38]
Chr4:153896274 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2437G>A (p.Gly813Arg) single nucleotide variant Inborn genetic diseases [RCV003006959] Chr4:152975728 [GRCh38]
Chr4:153896880 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2405G>C (p.Gly802Ala) single nucleotide variant Inborn genetic diseases [RCV002989258] Chr4:152975696 [GRCh38]
Chr4:153896848 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2306C>T (p.Pro769Leu) single nucleotide variant Inborn genetic diseases [RCV002718099] Chr4:152975597 [GRCh38]
Chr4:153896749 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1816G>A (p.Gly606Arg) single nucleotide variant Inborn genetic diseases [RCV002723174] Chr4:152975107 [GRCh38]
Chr4:153896259 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1618C>T (p.Arg540Cys) single nucleotide variant Inborn genetic diseases [RCV002679605] Chr4:152974909 [GRCh38]
Chr4:153896061 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2239G>A (p.Asp747Asn) single nucleotide variant Inborn genetic diseases [RCV003179007] Chr4:152975530 [GRCh38]
Chr4:153896682 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1473G>T (p.Glu491Asp) single nucleotide variant Inborn genetic diseases [RCV003218466] Chr4:152974764 [GRCh38]
Chr4:153895916 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.3245A>T (p.Asp1082Val) single nucleotide variant Inborn genetic diseases [RCV003189579] Chr4:152976536 [GRCh38]
Chr4:153897688 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.938A>G (p.Asn313Ser) single nucleotide variant Inborn genetic diseases [RCV003210929] Chr4:152963039 [GRCh38]
Chr4:153884191 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2951C>G (p.Pro984Arg) single nucleotide variant Inborn genetic diseases [RCV003206496] Chr4:152976242 [GRCh38]
Chr4:153897394 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2809A>G (p.Thr937Ala) single nucleotide variant Inborn genetic diseases [RCV003281729] Chr4:152976100 [GRCh38]
Chr4:153897252 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1967G>A (p.Gly656Asp) single nucleotide variant Inborn genetic diseases [RCV003207477] Chr4:152975258 [GRCh38]
Chr4:153896410 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2678C>A (p.Thr893Asn) single nucleotide variant Inborn genetic diseases [RCV003283862] Chr4:152975969 [GRCh38]
Chr4:153897121 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.3376C>G (p.Arg1126Gly) single nucleotide variant Inborn genetic diseases [RCV003345106] Chr4:152976667 [GRCh38]
Chr4:153897819 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.1562C>T (p.Pro521Leu) single nucleotide variant Inborn genetic diseases [RCV003372009] Chr4:152974853 [GRCh38]
Chr4:153896005 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2849C>A (p.Thr950Lys) single nucleotide variant Inborn genetic diseases [RCV003372357] Chr4:152976140 [GRCh38]
Chr4:153897292 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.631G>A (p.Glu211Lys) single nucleotide variant Inborn genetic diseases [RCV003364564] Chr4:152954287 [GRCh38]
Chr4:153875439 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.694G>A (p.Val232Met) single nucleotide variant Inborn genetic diseases [RCV003349185] Chr4:152960595 [GRCh38]
Chr4:153881747 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.202G>A (p.Gly68Arg) single nucleotide variant Inborn genetic diseases [RCV003356165] Chr4:152943259 [GRCh38]
Chr4:153864411 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2675G>A (p.Arg892Gln) single nucleotide variant Inborn genetic diseases [RCV003373921] Chr4:152975966 [GRCh38]
Chr4:153897118 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2632G>C (p.Gly878Arg) single nucleotide variant Inborn genetic diseases [RCV003368454] Chr4:152975923 [GRCh38]
Chr4:153897075 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.800C>T (p.Ser267Phe) single nucleotide variant Inborn genetic diseases [RCV003356299] Chr4:152960794 [GRCh38]
Chr4:153881946 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.2645G>A (p.Arg882Gln) single nucleotide variant Inborn genetic diseases [RCV003354409] Chr4:152975936 [GRCh38]
Chr4:153897088 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001371116.1(FHDC1):c.590A>G (p.His197Arg) single nucleotide variant Inborn genetic diseases [RCV003375872] Chr4:152954246 [GRCh38]
Chr4:153875398 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2914
Count of miRNA genes:862
Interacting mature miRNAs:1018
Transcripts:ENST00000260008, ENST00000511601
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-59851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,899,944 - 153,900,117UniSTSGRCh37
Build 364154,119,394 - 154,119,567RGDNCBI36
Celera4151,225,021 - 151,225,194RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,626,122 - 149,626,295UniSTS
GeneMap99-GB4 RH Map4637.41UniSTS
NCBI RH Map41568.4UniSTS
SHGC-36483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,900,617 - 153,900,691UniSTSGRCh37
Build 364154,120,067 - 154,120,141RGDNCBI36
Celera4151,225,694 - 151,225,768RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,626,795 - 149,626,869UniSTS
SHGC-50570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,885,016 - 153,885,142UniSTSGRCh37
Build 364154,104,466 - 154,104,592RGDNCBI36
Celera4151,210,093 - 151,210,219RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,611,200 - 149,611,326UniSTS
TNG Radiation Hybrid Map492245.0UniSTS
RH12235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,900,654 - 153,900,814UniSTSGRCh37
Build 364154,120,104 - 154,120,264RGDNCBI36
Celera4151,225,731 - 151,225,891RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,626,832 - 149,626,992UniSTS
GeneMap99-GB4 RH Map4637.51UniSTS
NCBI RH Map41568.4UniSTS
SHGC-34771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,899,824 - 153,899,973UniSTSGRCh37
Build 364154,119,274 - 154,119,423RGDNCBI36
Celera4151,224,901 - 151,225,050RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,626,002 - 149,626,151UniSTS
TNG Radiation Hybrid Map492257.0UniSTS
GeneMap99-GB4 RH Map4635.39UniSTS
Whitehead-RH Map4684.4UniSTS
GeneMap99-G3 RH Map48357.0UniSTS
WI-18191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,884,967 - 153,885,097UniSTSGRCh37
Build 364154,104,417 - 154,104,547RGDNCBI36
Celera4151,210,044 - 151,210,174RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,611,151 - 149,611,281UniSTS
GeneMap99-GB4 RH Map4635.8UniSTS
Whitehead-RH Map4684.4UniSTS
NCBI RH Map41568.4UniSTS
SHGC-51770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374153,900,463 - 153,900,684UniSTSGRCh37
Build 364154,119,913 - 154,120,134RGDNCBI36
Celera4151,225,540 - 151,225,761RGD
Cytogenetic Map4q31.3UniSTS
HuRef4149,626,641 - 149,626,862UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS


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 182 19 680 24 152 20 1562 4 202 39 281 1031 9 781 5
Low 2222 1691 559 291 1202 136 1789 1142 2990 359 1121 556 165 1 1049 1135 1 2
Below cutoff 35 1276 477 300 564 300 1005 1049 540 21 58 25 1 155 872

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001371116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI766662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ082418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ591010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T83061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W80711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260008   ⟹   ENSP00000260008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4152,942,983 - 152,979,696 (+)Ensembl
RefSeq Acc Id: ENST00000511601   ⟹   ENSP00000427567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4152,936,323 - 152,979,671 (+)Ensembl
RefSeq Acc Id: NM_001371116   ⟹   NP_001358045
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,936,323 - 152,979,671 (+)NCBI
T2T-CHM13v2.04156,259,520 - 156,302,882 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033393   ⟹   NP_203751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,937,803 - 152,979,671 (+)NCBI
GRCh374153,857,265 - 153,900,848 (+)NCBI
Build 364154,083,585 - 154,120,298 (+)NCBI Archive
Celera4151,189,210 - 151,225,925 (+)RGD
HuRef4149,590,362 - 149,627,026 (+)RGD
CHM1_14153,842,131 - 153,878,844 (+)NCBI
T2T-CHM13v2.04156,261,000 - 156,302,882 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532389   ⟹   XP_011530691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,935,887 - 152,979,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416335   ⟹   XP_047272291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,938,210 - 152,979,671 (+)NCBI
RefSeq Acc Id: XM_047416336   ⟹   XP_047272292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,911,339 - 152,979,671 (+)NCBI
RefSeq Acc Id: XM_047416337   ⟹   XP_047272293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,936,323 - 152,979,671 (+)NCBI
RefSeq Acc Id: XM_054351134   ⟹   XP_054207109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04156,258,886 - 156,302,882 (+)NCBI
RefSeq Acc Id: XM_054351135   ⟹   XP_054207110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04156,261,099 - 156,302,882 (+)NCBI
RefSeq Acc Id: XM_054351136   ⟹   XP_054207111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04156,234,537 - 156,302,882 (+)NCBI
RefSeq Acc Id: XM_054351137   ⟹   XP_054207112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04156,259,520 - 156,302,882 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_203751   ⟸   NM_033393
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530691   ⟸   XM_011532389
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358045   ⟸   NM_001371116
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000260008   ⟸   ENST00000260008
RefSeq Acc Id: ENSP00000427567   ⟸   ENST00000511601
RefSeq Acc Id: XP_047272292   ⟸   XM_047416336
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272293   ⟸   XM_047416337
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047272291   ⟸   XM_047416335
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207111   ⟸   XM_054351136
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207109   ⟸   XM_054351134
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207112   ⟸   XM_054351137
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207110   ⟸   XM_054351135
- Peptide Label: isoform X1
- UniProtKB: Q9C0D6 (UniProtKB/Swiss-Prot)
Protein Domains
FH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0D6-F1-model_v2 AlphaFold Q9C0D6 1-1143 view protein structure

Promoters
RGD ID:6868682
Promoter ID:EPDNEW_H7506
Type:initiation region
Name:FHDC1_2
Description:FH2 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7507  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,935,887 - 152,935,947EPDNEW
RGD ID:6868684
Promoter ID:EPDNEW_H7507
Type:initiation region
Name:FHDC1_1
Description:FH2 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7506  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384152,936,323 - 152,936,383EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29363 AgrOrtholog
COSMIC FHDC1 COSMIC
Ensembl Genes ENSG00000137460 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000511601 ENTREZGENE
  ENST00000511601.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.2220 UniProtKB/Swiss-Prot
GTEx ENSG00000137460 GTEx
HGNC ID HGNC:29363 ENTREZGENE
Human Proteome Map FHDC1 Human Proteome Map
InterPro FH2_Formin UniProtKB/Swiss-Prot
  FH2_Formin_sf UniProtKB/Swiss-Prot
KEGG Report hsa:85462 UniProtKB/Swiss-Prot
NCBI Gene 85462 ENTREZGENE
OMIM 620268 OMIM
PANTHER FH2 DOMAIN-CONTAINING PROTEIN 1-RELATED UniProtKB/Swiss-Prot
  PROTEIN DIAPHANOUS UniProtKB/Swiss-Prot
Pfam FH2 UniProtKB/Swiss-Prot
PharmGKB PA162388490 PharmGKB
PROSITE FH2 UniProtKB/Swiss-Prot
SMART FH2 UniProtKB/Swiss-Prot
Superfamily-SCOP Formin homology 2 domain (FH2 domain) UniProtKB/Swiss-Prot
UniProt FHDC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE