AL590627.1 (forkhead box H1 (FOXH1) pseudogene)

Gene: AL590627.1 (forkhead box H1 (FOXH1) pseudogene) Homo sapiens

Analyze

Symbol:

AL590627.1

Name:

forkhead box H1 (FOXH1) pseudogene

RGD ID:

16560835

Description:

ASSOCIATED WITH Adams-Oliver Syndrome 5; autosomal dominant intellectual developmental disorder 8; developmental and epileptic encephalopathy 14

Type:

ncrna (Ensembl: transcribed_processed_pseudogene)

RefSeq Status:

VALIDATED

Previously known as:

LOC651337; uncharacterized LOC651337

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	137,784,073 - 137,788,406 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	137,776,539 - 137,789,235 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	140,678,525 - 140,682,858 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	9	q34.3	NCBI
T2T-CHM13v2.0	9	150,042,448 - 150,046,781 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Adams-Oliver Syndrome 5 (IAGP)

autosomal dominant intellectual developmental disorder 8 (IAGP)

developmental and epileptic encephalopathy 14 (IAGP)

epilepsy (IAGP)

Joubert syndrome 1 (IAGP)

Kleefstra syndrome (IAGP)

Kleefstra syndrome 1 (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Rafiq syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Seizure (IAGP)

References

Genomics

Variants

Variants in AL590627.1
4 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
Single allele	deletion	Epilepsy [RCV001293379]	Chr9:139764148..141066491 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140657896-140685432)x3	copy number gain	See cases [RCV000510324]	Chr9:140657896..140685432 [GRCh37] Chr9:9q34.3	conflicting data from submitters
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000148284]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1	copy number loss	not provided [RCV001006281]	Chr9:140401671..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140622578-141020389)x1	copy number loss	not provided [RCV001006283]	Chr9:140622578..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140657611-140781422)x1	copy number loss	not provided [RCV000846719]	Chr9:140657611..140781422 [GRCh37] Chr9:9q34.3	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
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 9q34.3(chr9:139282807-141020389)x1	copy number loss	See cases [RCV000448743]	Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140309120-141018925)x1	copy number loss	See cases [RCV000449201]	Chr9:140309120..141018925 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137764592-137790980)x3	copy number gain	See cases [RCV000139934]	Chr9:137764592..137790980 [GRCh38] Chr9:140659044..140685432 [GRCh37] Chr9:139778865..139805253 [NCBI36] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_140657107)_(140685442_?)dup	duplication	Kleefstra syndrome 1 [RCV000707929]	Chr9:137762655..137790990 [GRCh38] Chr9:140657107..140685442 [GRCh37] Chr9:9q34.3	likely pathogenic\|uncertain significance
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
GRCh37/hg19 9q34.3(chr9:140639661-140726103)x1	copy number loss	See cases [RCV000510244]	Chr9:140639661..140726103 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140533290-140716973)x1	copy number loss	See cases [RCV000510473]	Chr9:140533290..140716973 [GRCh37] Chr9:9q34.3	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(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	copy number loss	mTOR Inhibitor response [RCV000626442]	Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3	drug response
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	copy number loss	See cases [RCV000052953]	Chr9:137514943..138121473 [GRCh38] Chr9:140409395..141015925 [GRCh37] Chr9:139529216..140135746 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	copy number loss	See cases [RCV000142978]	Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137778047-137818152)x1	copy number loss	See cases [RCV000050853]	Chr9:137778047..137818152 [GRCh38] Chr9:140672499..140712604 [GRCh37] Chr9:139792320..139832425 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137743457-137836015)x1	copy number loss	See cases [RCV000052957]	Chr9:137743457..137836015 [GRCh38] Chr9:140637909..140730467 [GRCh37] Chr9:139757730..139850288 [NCBI36] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1	copy number loss	not provided [RCV000683132]	Chr9:140447917..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1	copy number loss	not provided [RCV000683137]	Chr9:140366594..141020389 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.12:g.137604238_138131469dup	duplication	9q34 microduplication syndrome [RCV000851534]	Chr9:137604238..138131469 [GRCh38] Chr9:140498690..141025921 [GRCh37] Chr9:9q34.3	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 9q34.3(chr9:140603912-141020389)x1	copy number loss	not provided [RCV000846092]	Chr9:140603912..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	copy number loss	See cases [RCV000510584]	Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	copy number gain	not provided [RCV000683160]	Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3	copy number gain	not provided [RCV000999306]	Chr9:140391637..140964215 [GRCh37] Chr9:9q34.3	uncertain significance
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
GRCh37/hg19 9q34.3(chr9:140573688-140685407)x3	copy number gain	not provided [RCV000683078]	Chr9:140573688..140685407 [GRCh37] Chr9:9q34.3	likely 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 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 9q34.3(chr9:137778047-137862670)x1	copy number loss	See cases [RCV000051124]	Chr9:137778047..137862670 [GRCh38] Chr9:140672499..140757122 [GRCh37] Chr9:139792320..139876943 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	copy number loss	See cases [RCV000052955]	Chr9:137598355..138091769 [GRCh38] Chr9:140492807..140986221 [GRCh37] Chr9:139612628..140106042 [NCBI36] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	copy number gain	See cases [RCV000511188]	Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3	likely 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
NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	Developmental and epileptic encephalopathy, 14 [RCV001362982]\|Kleefstra syndrome 1 [RCV001031921]	Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
GRCh37/hg19 9q34.3(chr9:140612478-141020389)x1	copy number loss	not provided [RCV001006282]	Chr9:140612478..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	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
NC_000009.11:g.(?_140646763)_(140881326_?)del	deletion	Kleefstra syndrome 1 [RCV003122292]\|not provided [RCV003105291]	Chr9:140646763..140881326 [GRCh37] Chr9:9q34.3	pathogenic\|no classifications from unflagged records
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 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
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	copy number gain	See cases [RCV000142955]	Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	copy number gain	See cases [RCV000143394]	Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3	likely 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
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
NC_000009.12:g.(?_137139467)_(137834973_?)del	deletion	Kleefstra syndrome 1 [RCV001031572]	Chr9:140033919..140729425 [GRCh37] Chr9:9q34.3	pathogenic
NM_024757.5(EHMT1):c.2382+1884G>A	single nucleotide variant	not provided [RCV001676314]	Chr9:137784281 [GRCh38] Chr9:140678733 [GRCh37] Chr9:9q34.3	benign
NM_024757.5(EHMT1):c.2382+1888T>C	single nucleotide variant	not provided [RCV001590475]	Chr9:137784285 [GRCh38] Chr9:140678737 [GRCh37] Chr9:9q34.3	likely benign
NM_024757.5(EHMT1):c.2382+1781C>T	single nucleotide variant	not provided [RCV001683862]	Chr9:137784178 [GRCh38] Chr9:140678630 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140550908-140757122)x3	copy number gain	See cases [RCV000240393]	Chr9:140550908..140757122 [GRCh37] Chr9:9q34.3	uncertain significance
NM_024757.5(EHMT1):c.2382+1697T>G	single nucleotide variant	not provided [RCV000171431]	Chr9:137784094 [GRCh38] Chr9:140678546 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1	copy number loss	See cases [RCV000446849]	Chr9:140444759..140878805 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140620020-140854178)x1	copy number loss	See cases [RCV000449333]	Chr9:140620020..140854178 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	copy number loss	See cases [RCV000052940]	Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	copy number loss	See cases [RCV000052941]	Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	copy number loss	See cases [RCV000052951]	Chr9:137215877..137830604 [GRCh38] Chr9:140110329..140725056 [GRCh37] Chr9:139230150..139844877 [NCBI36] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138225001-141015001)	copy number loss	Microcephaly [RCV001252947]	Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000050344]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	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
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140533412-140793866)x3	copy number gain	not provided [RCV000847760]	Chr9:140533412..140793866 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3	copy number gain	See cases [RCV000142761]	Chr9:137763015..137902180 [GRCh38] Chr9:140657467..140796632 [GRCh37] Chr9:139777288..139916453 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1	copy number loss	not provided [RCV000748787]	Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	copy number loss	See cases [RCV000143327]	Chr9:137345965..138159083 [GRCh38] Chr9:140240417..141053535 [GRCh37] Chr9:139360238..140173356 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	copy number gain	See cases [RCV000053814]	Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	copy number loss	See cases [RCV000052936]	Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1	copy number loss	See cases [RCV000052954]	Chr9:137574369..138041809 [GRCh38] Chr9:140468821..140936261 [GRCh37] Chr9:139588642..140056082 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	copy number loss	See cases [RCV000052956]	Chr9:137620211..137958459 [GRCh38] Chr9:140514663..140852911 [GRCh37] Chr9:139634484..139972732 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	copy number gain	See cases [RCV000136863]	Chr9:137391682..138114463 [GRCh38] Chr9:140286134..141008915 [GRCh37] Chr9:139405955..140128736 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137656456-137862670)x3	copy number gain	See cases [RCV000137146]	Chr9:137656456..137862670 [GRCh38] Chr9:140550908..140757122 [GRCh37] Chr9:139670729..139876943 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	copy number loss	See cases [RCV000446074]	Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1	copy number loss	See cases [RCV000446191]	Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140444759-140730408)x1	copy number loss	See cases [RCV000446742]	Chr9:140444759..140730408 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137757333-137790980)x4	copy number gain	See cases [RCV000143611]	Chr9:137757333..137790980 [GRCh38] Chr9:140651785..140685432 [GRCh37] Chr9:139771606..139805253 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	copy number loss	See cases [RCV000051116]	Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	copy number gain	See cases [RCV000139807]	Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	copy number loss	See cases [RCV000052952]	Chr9:137484248..138179445 [GRCh38] Chr9:140378700..141073897 [GRCh37] Chr9:139498521..140193718 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3	copy number gain	See cases [RCV000053815]	Chr9:137640712..137892491 [GRCh38] Chr9:140535164..140786943 [GRCh37] Chr9:139654985..139906764 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	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 9q34.3(chr9:140064816-140759229)x3	copy number gain	not provided [RCV000847406]	Chr9:140064816..140759229 [GRCh37] Chr9:9q34.3	uncertain significance
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-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 9q34.2-34.3(chr9:133504071-138159073)x3	copy number gain	See cases [RCV000137825]	Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140657896-140716973)x1	copy number loss	not provided [RCV001259532]	Chr9:140657896..140716973 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del	deletion	Kleefstra syndrome 1 [RCV001267844]	Chr9:139018777..141018984 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139284464-141018984)	copy number loss	Cryptorchidism [RCV001352666]	Chr9:139284464..141018984 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_140513481)_(141016451_?)del	deletion	Kleefstra syndrome 1 [RCV001387112]	Chr9:140513481..141016451 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_140622791)_(141016451_?)del	deletion	Kleefstra syndrome 1 [RCV001387113]	Chr9:140622791..141016451 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_140646763)_(140729425_?)del	deletion	Kleefstra syndrome 1 [RCV001387114]	Chr9:140646763..140729425 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_139089171)_(141016451_?)del	deletion	Rafiq syndrome [RCV003122293]\|not provided [RCV003105304]	Chr9:139089171..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|no classifications from unflagged records
GRCh37/hg19 9q34.3(chr9:138740078-141020389)	copy number loss	not specified [RCV002052850]	Chr9:138740078..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140230197-140893129)	copy number gain	not specified [RCV002052855]	Chr9:140230197..140893129 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:140493726-140766254)	copy number gain	not specified [RCV002052857]	Chr9:140493726..140766254 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:140475437-141020389)x3	copy number gain	not provided [RCV001829215]	Chr9:140475437..141020389 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:140620020-140854178)	copy number loss	not specified [RCV002052858]	Chr9:140620020..140854178 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)	copy number loss	not specified [RCV002052854]	Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3	pathogenic
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 9q34.3(chr9:139282807-141020389)	copy number loss	not specified [RCV002052852]	Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_140040158)_(141016451_?)del	deletion	Intellectual disability, autosomal dominant 8 [RCV003109674]\|Kleefstra syndrome 1 [RCV003116549]	Chr9:140040158..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	Adams-Oliver syndrome 5 [RCV003119767]\|Developmental and epileptic encephalopathy, 14 [RCV003109684]\|Familial aplasia of the vermis [RCV003119768]	Chr9:138392557..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NC_000009.11:g.(?_140605399)_(140729425_?)del	deletion	Kleefstra syndrome 1 [RCV003122715]	Chr9:140605399..140729425 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_140605399)_(140729405_?)dup	duplication	Kleefstra syndrome 1 [RCV003122717]	Chr9:140605399..140729405 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_140637803)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122718]	Chr9:140637803..141016451 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122719]	Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3	uncertain significance
Single allele	deletion	not provided [RCV003448674]	Chr9:140395736..141075109 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	copy number gain	not provided [RCV003484786]	Chr9:136988996..141020389 [GRCh37] Chr9:9q34.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761662]	Chr9:140014769..140930811 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140498690-141025921)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761659]	Chr9:140498690..141025921 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761663]	Chr9:140233379..140756825 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761664]	Chr9:140327663..140756825 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761658]	Chr9:139942000..141074000 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761665]	Chr9:140277524..140762652 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140452620-140776505)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761666]	Chr9:140452620..140776505 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761668]	Chr9:140351824..140772481 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660]	Chr9:139685408..141050580 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140372234-140905328)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761667]	Chr9:140372234..140905328 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761661]	Chr9:139972953..140954193 [GRCh37] Chr9:9q34.3	likely pathogenic
NM_024757.5(EHMT1):c.2382+1700T>G	single nucleotide variant	EHMT1-related condition [RCV003921909]	Chr9:137784097 [GRCh38] Chr9:140678549 [GRCh37] Chr9:9q34.3	likely benign
NM_024757.5(EHMT1):c.2382+1750G>A	single nucleotide variant	Kleefstra syndrome [RCV004006230]	Chr9:137784147 [GRCh38] Chr9:140678599 [GRCh37] Chr9:9q34.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	328
Count of miRNA genes:	312
Interacting mature miRNAs:	327
Transcripts:	ENST00000421194
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

1517

1166

917

184

1051

3175

693

1068

1041

1176

133

816

1892

Below cutoff

896

1812

682

331

825

298

1155

1482

2595

261

305

351

388

896

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_147508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK124119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL611925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000421194

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,787,665 - 137,788,690 (-)	Ensembl

RefSeq Acc Id:

ENST00000626603

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,776,539 - 137,789,235 (-)	Ensembl

RefSeq Acc Id:

ENST00000629344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,784,073 - 137,788,193 (-)	Ensembl

RefSeq Acc Id:

NR_147508

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	137,784,073 - 137,788,406 (-)	NCBI
T2T-CHM13v2.0	9	150,042,448 - 150,046,781 (-)	NCBI

Sequence:

show sequence

CTTACACCTGCGTGAGCGTCACCCCGGCTGAGGCGCTGGCAGAAGGCGGTGCGGGTGGAGCCTT
CGCCAACGTCCTGGGCCCCCTGAGTGCTGCATGCCAGTCCTACCAGCCGCTCGGTCATCTGCCA
CCGCCCAGCAATGGCTTCAGCATGCAGTCCCTGCTAGGGGACTCCAGGGAGGAGCATCCTGGCC
AGGGCTGGTGCCACAGAGCAGCCCAGCTTCTGCAGGCAGATGACAGAAGAGCAGACCGATGAAA
ACATGAGTGTCTGTGGTGAGTTCGGATGGCAGCGTGTGGCACCTCGCTCAGTGCTCTCCAGAAA
CTGCAGACACGGCATGAAATCTTGCAACACGAGGGACCAGGACACCGAAGGGCAGCAGGGGAGA
TGACTCCACATGACCAAGACGGGAGCCCGGGAGAGATGAGGCCACACGGCCAAGATGGGAGCCC
AGGGGAGATGACACCACATGAGACCAAGACCGGAGCCGGAGGGAGAGATGACGCCACACGACCA
AGACTGGAGCTGGAGGGAGATGACTCCACACAACCAAGACCAGAGCCCGGGAGAGATGACTCCA
CACGACCAAGACCGGAGCCCGGGAGAGATGACTCCACACGACCAAGACCAGAGCCCGGGGGAGA
TGACACCACAGGCCCTCACTGGTGTGGCCAGAGCCTGCCCAAAGAGTGTGTGTGAGATGTGAGA
CACCCCTGCAGATGCTGAAACCCTGAGAAACAGCACCCTTGGATTCAGGGCAAACTAGAGATAA
AGCCAATCTCTCTCTCTTCCTGGAGAATCTCAGGAAAACCGCTTAGATTCTAAGGGGAAGAAAA
AATAGAAATCCCTCTAAGACCAGCAACAGTAAGTTCTGCAGGACGGGTTATCAAATTAAACATC
AGGCTAGGAATTTAACCCGAAGTTCCAGACTGGTCAGACCCCGGGCACTGCATGGACAGCAGCA
CCAAGGGACATAATGATTTCCTCCCAATACATCATGTTATTTCACGGCACTAAACTCACAAGAG
GCTGTAAAACAGAACGAAGAGCTCTGTACTCCCCTCACTCGGCCTCCCCAAAGACGACGTTTCA
GACAAGCACAGAGCACAGGCAGTCAGCAGGGAGCCCTGGCAGGGCCAGGCCACTCAGCCCCACA
GCCATGTCCCTTTTCTACACTCCCTTGTTTTCCTGACTGACGGAAGCAGACACAAAGGAACTCA
CGCTGGACAACTCAGTTAGCATAAAGGTTAAAAGCAAACAAACGGAACCCTGCTATGCGAGGCA
CTTGCAGGGCGGTGAGACCAAAACGGCTGCTGTTCCCGGGGAGGGCACCCAGGCGTCCACCAGG
TGTCCAGGGAGCCAGCAACGCTGTGTCTCACGGGGGTGCGAATGTCAGGGCCAGAGTAGGATGA
TTTGTTAACCAGATGTTTACATTTTAAGGACCTTTCTGTATGCATGATGCAACCATATGTTTTT
GGGTTTTAATTTTAATATTTAAAAAAGAAAGCCAAAGAGAACCCAGTGTCTTTCAAAGGAGTGA
CAAGCTAAATTCTCAAAAGGAAGAATGGAAGTCAGAAGACAGTGGCATCATTCCTTACATGACC
TGAGGAAAACCACCAGCAACCTGGAATTCCAGGCACAGGAGGAATGTCTTCAAGAAGCCTCCAC
AGCCAGCAGTGGACATGGAGAATGGGCTCAGCACGGCCCACCCTCACGGGCTCAGCACACCCCA
CCCTCAGGGGCTCAGCACGGCCCACCCTCACGGGCTCAGCGCACCCCACCCTCACGGGCTCAGC
GCACCCACATTCATGGCCTTGCCCAGCTCCTGGGGCCATCGGGGTAGCACTCATACAGCCCTTG
TTCCTGTCTGGTCCATTCCCCCACGTGGCTCTGCACACTCATCCCCATTCAGGTCCATCCGCAA
CAGAACAGAATCATGCCACACCCTTCACTAGGCCTCCCAGGAGAGGAGAGGGCCTCCCAGCCGA
ATGCCTGGCCCTCCACCAGCATCTGCTCTCGAGCCCCACAACACCAGCTCCTGCCTCTTCCAGA
CCACGCTCTTCCTCTTCCTCAGAGCCCCACCTATGAACGTCCTGGCATCACTCCTGCCCTGAAC
AGCCCAGCCCTCACTCCAGCTCTGCCTGTGTCTGGACGACCACCCCCCACTCCCTGACCTCACC
CCCTCCCACAAGCCTGTTCCCACCAGATCAGCCACTTCCCTCATGGTCTCACCATGAACCACAG
CCCACATGACTCGTCTTGAGGCCACCCCACTGTCTCTGAATCCTTTTCTGCTTCTCCCTGACAT
ACCCAGCAGCCTCCGTGGCTCCTCCTGCATGGAGCTGGCCCCCAGTGCCCCCAGTGCCTACCTC
GGCTCAGCGCTTCTCACGGCACACTTTCCTCTCAGCCTCCAGGAGCCCCCCACAAACCCCTGGC
TTACTGGACCCCAGTTCACTCAGCTGCTCCCTCCCTCACCCCCCTGCCAGGGCTTGGCTCCCCC
ATCATCATCTCATTCAGTCTTGACCTTGGTAAGTCAAGTCTGCATGTGAGACTGACAGGAACCA
CTGGGGCAAAAACTGGAAAGTTTGTAACTAACAGAGAGAAGAGAAATGGCAAAATCAAAATAAA
ACCAATTCAAAAGACGCAAGAACGACCAAAAAGTGGAAAGTCTGTAACTTCCAGAGAGAAGAGA
AACGGCAAAATCGAAATAAAACCAATTCAAAAGATGCACGAACGACCAAAAAAGTATTGGCTTC
AAAAGGCTGGCACTATGGTCTGAATGCAATTTATTTACCGGGGCTGGGGGCCCCAATGAGGTTT
TGAGGCTGGGCCTTTAAGAGGCTACGAGGCTGTGAAGATGGAGCCACGCCTCTCTGAAAGGCGG
AGTCAGCCCCCAGGAATGGACCTGCTCCCTGTGGGCGGCCTGGTCCACAGCAAGGCTGTGCTGG
AGCATCTTCCTCTTGGCGTGGTTCCTGGCTGTGTTCGGGAACAGCACGAGGTCCTCACCATAAG
TCACCAAAGGCAGCCCCTCGACCTTGGGCTTCCCAGCCTGCAGAACTGTGAGAAATAAATTTCT
TTTCTTTATAAATG

hide sequence

Protein Sequences


GenBank Protein	BAC86378	(Get FASTA)	NCBI Sequence Viewer

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	AL590627.1	COSMIC
Ensembl Genes	ENSG00000255585	Ensembl
	ENSG00000293104	ENTREZGENE
Ensembl Transcript	ENST00000629344	ENTREZGENE
GTEx	ENSG00000255585	GTEx
	ENSG00000293104	GTEx
Human Proteome Map	AL590627.1	Human Proteome Map
NCBI Gene	LOC651337	ENTREZGENE
RNAcentral	URS0000BC44F6	RNACentral

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-06-25	AL590627.1	forkhead box H1 (FOXH1) pseudogene	LOC651337	uncharacterized LOC651337	Symbol and/or name change	19259462	PROVISIONAL
2020-06-18	LOC651337	uncharacterized LOC651337	AL590627.1	forkhead box H1 (FOXH1) pseudogene	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar