FLYWCH2 (FLYWCH family member 2) - Rat Genome Database

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Gene: FLYWCH2 (FLYWCH family member 2) Homo sapiens
Analyze
Symbol: FLYWCH2
Name: FLYWCH family member 2
RGD ID: 1602659
HGNC Page HGNC:25178
Description: Enables RNA binding activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein bc014089
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,883,195 - 2,899,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,883,213 - 2,899,382 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,933,196 - 2,949,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,873,319 - 2,889,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,138,592 - 3,154,795 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,905,303 - 2,921,496 (+)NCBIHuRef
CHM1_1162,933,222 - 2,949,397 (+)NCBICHM1_1
T2T-CHM13v2.0162,909,827 - 2,926,022 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function
RNA binding  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12477932   PMID:19322201   PMID:21516116   PMID:22658674   PMID:25036637   PMID:25281560   PMID:26186194   PMID:26344197   PMID:26472337   PMID:26752685   PMID:28514442   PMID:28515276  
PMID:28986522   PMID:30415952   PMID:30833792   PMID:30884312   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34672954   PMID:35198878   PMID:35271311   PMID:35831314  
PMID:37223481   PMID:37314216   PMID:38113892  


Genomics

Comparative Map Data
FLYWCH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,883,195 - 2,899,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,883,213 - 2,899,382 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,933,196 - 2,949,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,873,319 - 2,889,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,138,592 - 3,154,795 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,905,303 - 2,921,496 (+)NCBIHuRef
CHM1_1162,933,222 - 2,949,397 (+)NCBICHM1_1
T2T-CHM13v2.0162,909,827 - 2,926,022 (+)NCBIT2T-CHM13v2.0
Flywch2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391723,995,888 - 24,005,190 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1723,995,890 - 24,005,055 (-)EnsemblGRCm39 Ensembl
GRCm381723,776,914 - 23,786,216 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1723,776,916 - 23,786,081 (-)EnsemblGRCm38mm10GRCm38
MGSCv371723,913,885 - 23,923,044 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361723,504,540 - 23,513,701 (-)NCBIMGSCv36mm8
Celera1724,270,792 - 24,279,773 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.05NCBI
Flywch2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81013,303,346 - 13,311,677 (-)NCBIGRCr8
mRatBN7.21012,798,757 - 12,807,082 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1012,798,762 - 12,806,439 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01013,112,215 - 13,120,843 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,112,212 - 13,115,294 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01012,931,677 - 12,940,259 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1012,493,952 - 12,502,321 (-)NCBICelera
Cytogenetic Map10q12NCBI
FLYWCH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2183,429,498 - 3,446,044 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1167,207,980 - 7,224,466 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0161,826,987 - 1,843,208 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,998,744 - 3,014,664 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,998,744 - 3,014,664 (+)Ensemblpanpan1.1panPan2
FLYWCH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,255,495 - 38,264,953 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,256,552 - 38,258,564 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha639,495,939 - 39,505,407 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0638,566,044 - 38,575,511 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl638,567,106 - 38,569,118 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,251,778 - 38,261,242 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,224,276 - 38,233,743 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0638,700,104 - 38,709,572 (-)NCBIUU_Cfam_GSD_1.0
Flywch2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344105,457,876 - 105,468,089 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,243,090 - 1,251,591 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366941,241,550 - 1,251,555 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FLYWCH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,251,491 - 39,255,803 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,251,487 - 39,261,937 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2340,683,184 - 40,693,545 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103226980
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.152,632,390 - 2,644,964 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl52,641,727 - 2,644,739 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606828,229,876 - 28,256,975 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Flywch2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624824643,419 - 658,292 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624824643,576 - 655,515 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FLYWCH2
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 copy number gain See cases [RCV000052394] Chr16:2326840..3487106 [GRCh38]
Chr16:2376841..3537106 [GRCh37]
Chr16:2316842..3477107 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1 copy number loss See cases [RCV000053269] Chr16:2494804..3246579 [GRCh38]
Chr16:2544805..3296579 [GRCh37]
Chr16:2484806..3236580 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3 copy number gain See cases [RCV000053820] Chr16:2786223..2913719 [GRCh38]
Chr16:2836224..2963720 [GRCh37]
Chr16:2776225..2903721 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 copy number gain See cases [RCV000240318] Chr16:2867891..3942436 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3 copy number gain See cases [RCV000512346] Chr16:2606710..3382546 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2899096-3003863)x1 copy number loss not provided [RCV000848349] Chr16:2899096..3003863 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2859583-3056563)x3 copy number gain not provided [RCV000848624] Chr16:2859583..3056563 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2817166-3056563)x3 copy number gain not provided [RCV000846256] Chr16:2817166..3056563 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2716924-3055626)x3 copy number gain not provided [RCV000849054] Chr16:2716924..3055626 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2794763-2993610)x1 copy number loss not provided [RCV002472811] Chr16:2794763..2993610 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_138439.3(FLYWCH2):c.409G>A (p.Gly137Ser) single nucleotide variant not specified [RCV004121427] Chr16:2899135 [GRCh38]
Chr16:2949136 [GRCh37]
Chr16:16p13.3		 likely benign
NM_138439.3(FLYWCH2):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004124041] Chr16:2896538 [GRCh38]
Chr16:2946539 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.404C>T (p.Ala135Val) single nucleotide variant not specified [RCV004212476] Chr16:2899130 [GRCh38]
Chr16:2949131 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.304C>T (p.Arg102Trp) single nucleotide variant not specified [RCV004266481] Chr16:2896753 [GRCh38]
Chr16:2946754 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.214G>A (p.Gly72Ser) single nucleotide variant not specified [RCV004251897] Chr16:2896663 [GRCh38]
Chr16:2946664 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3 copy number gain not provided [RCV003485082] Chr16:2606711..3935836 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3 copy number gain not provided [RCV003485084] Chr16:2643569..3716657 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.344G>A (p.Ser115Asn) single nucleotide variant not specified [RCV004389586] Chr16:2899070 [GRCh38]
Chr16:2949071 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.77C>G (p.Thr26Arg) single nucleotide variant not specified [RCV004389588] Chr16:2896526 [GRCh38]
Chr16:2946527 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_138439.3(FLYWCH2):c.356C>T (p.Ala119Val) single nucleotide variant not specified [RCV004389587] Chr16:2899082 [GRCh38]
Chr16:2949083 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_2550259)_(3154076_?)del deletion Developmental and epileptic encephalopathy, 1 [RCV004582752] Chr16:2550259..3154076 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1497
Count of miRNA genes:720
Interacting mature miRNAs:826
Transcripts:ENST00000293981, ENST00000396958, ENST00000572006, ENST00000572786, ENST00000573965
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597273142GWAS1369216_Hbrain-specific serine protease 4 measurement QTL GWAS1369216 (human)8e-13brain-specific serine protease 4 measurement1628879832887984Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000293981   ⟹   ENSP00000293981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,883,213 - 2,899,382 (+)Ensembl
Ensembl Acc Id: ENST00000396958   ⟹   ENSP00000380159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,883,215 - 2,899,365 (+)Ensembl
Ensembl Acc Id: ENST00000572006   ⟹   ENSP00000459223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,883,259 - 2,896,896 (+)Ensembl
Ensembl Acc Id: ENST00000572786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,898,755 - 2,899,365 (+)Ensembl
Ensembl Acc Id: ENST00000573965   ⟹   ENSP00000461275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl162,883,228 - 2,896,723 (+)Ensembl
RefSeq Acc Id: NM_001142499   ⟹   NP_001135971
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,195 - 2,899,382 (+)NCBI
GRCh37162,932,924 - 2,949,383 (+)NCBI
Celera163,138,592 - 3,154,795 (+)RGD
HuRef162,905,303 - 2,921,496 (+)RGD
CHM1_1162,933,222 - 2,949,397 (+)NCBI
T2T-CHM13v2.0162,909,827 - 2,926,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142500   ⟹   NP_001135972
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,195 - 2,899,382 (+)NCBI
GRCh37162,932,924 - 2,949,383 (+)NCBI
Celera163,138,592 - 3,154,795 (+)RGD
HuRef162,905,303 - 2,921,496 (+)RGD
CHM1_1162,933,222 - 2,949,397 (+)NCBI
T2T-CHM13v2.0162,909,827 - 2,926,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138439   ⟹   NP_612448
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,215 - 2,899,365 (+)NCBI
GRCh37162,932,924 - 2,949,383 (+)NCBI
Build 36162,873,319 - 2,889,357 (+)NCBI Archive
Celera163,138,592 - 3,154,795 (+)RGD
HuRef162,905,303 - 2,921,496 (+)RGD
CHM1_1162,933,222 - 2,949,397 (+)NCBI
T2T-CHM13v2.0162,909,847 - 2,926,005 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255078   ⟹   XP_005255135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,215 - 2,899,382 (+)NCBI
GRCh37162,932,924 - 2,949,383 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433572   ⟹   XP_047289528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,215 - 2,898,954 (+)NCBI
RefSeq Acc Id: XM_054379508   ⟹   XP_054235483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0162,909,847 - 2,926,022 (+)NCBI
RefSeq Acc Id: NP_612448   ⟸   NM_138439
- UniProtKB: Q96CP2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135971   ⟸   NM_001142499
- UniProtKB: Q96CP2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135972   ⟸   NM_001142500
- UniProtKB: Q96CP2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255135   ⟸   XM_005255078
- Peptide Label: isoform X1
- UniProtKB: Q96CP2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000293981   ⟸   ENST00000293981
Ensembl Acc Id: ENSP00000459223   ⟸   ENST00000572006
Ensembl Acc Id: ENSP00000461275   ⟸   ENST00000573965
Ensembl Acc Id: ENSP00000380159   ⟸   ENST00000396958
RefSeq Acc Id: XP_047289528   ⟸   XM_047433572
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235483   ⟸   XM_054379508
- Peptide Label: isoform X1
- UniProtKB: Q96CP2 (UniProtKB/Swiss-Prot)
Protein Domains
FLYWCH-type zinc finger-containing protein N-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96CP2-F1-model_v2 AlphaFold Q96CP2 1-140 view protein structure

Promoters
RGD ID:6792738
Promoter ID:HG_KWN:22839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142500,   OTTHUMT00000250944,   OTTHUMT00000250945
Position:
Human AssemblyChrPosition (strand)Source
Build 36162,872,516 - 2,873,367 (+)MPROMDB
RGD ID:7231089
Promoter ID:EPDNEW_H21290
Type:initiation region
Name:FLYWCH2_2
Description:FLYWCH family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21291  EPDNEW_H21292  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,882,901 - 2,882,961EPDNEW
RGD ID:7231091
Promoter ID:EPDNEW_H21291
Type:initiation region
Name:FLYWCH2_1
Description:FLYWCH family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21290  EPDNEW_H21292  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,883,246 - 2,883,306EPDNEW
RGD ID:7231093
Promoter ID:EPDNEW_H21292
Type:initiation region
Name:FLYWCH2_3
Description:FLYWCH family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21290  EPDNEW_H21291  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,893,800 - 2,893,860EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25178 AgrOrtholog
COSMIC FLYWCH2 COSMIC
Ensembl Genes ENSG00000162076 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293981 ENTREZGENE
  ENST00000293981.10 UniProtKB/Swiss-Prot
  ENST00000396958 ENTREZGENE
  ENST00000396958.8 UniProtKB/Swiss-Prot
  ENST00000572006.1 UniProtKB/TrEMBL
  ENST00000573965.1 UniProtKB/TrEMBL
GTEx ENSG00000162076 GTEx
HGNC ID HGNC:25178 ENTREZGENE
Human Proteome Map FLYWCH2 Human Proteome Map
InterPro FLYWCH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FWCH1/FWCH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114984 UniProtKB/Swiss-Prot
NCBI Gene 114984 ENTREZGENE
PANTHER FLYWCH FAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FLYWCH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388745 PharmGKB
UniProt FWCH2_HUMAN UniProtKB/Swiss-Prot
  I3L1Y9_HUMAN UniProtKB/TrEMBL
  I3L4I0_HUMAN UniProtKB/TrEMBL
  Q96CP2 ENTREZGENE