AutismKB 2.0

Annotation Detail for KIRREL


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Basic Information Top
Gene Symbol:KIRREL ( FLJ10845,MGC129542,MGC129543,NEPH1 )
Gene Full Name: kin of IRRE like (Drosophila)
Band: 1q21-q25
Quick LinksEntrez ID:55243; OMIM: 607428; Uniprot ID:KIRR1_HUMAN; ENSEMBL ID: ENSG00000183853; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst1 / 6231916
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult6 / 19391213
embryoid body4 / 7076156
blastocyst1 / 6231916
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult19 / 19391219
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal12 / 33603073
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal16 / 33603074
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx1 / 2414541
liver2 / 2077439
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220825_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.4
Adipocyte3.8
AdrenalCortex4.05
Adrenalgland3.2
Amygdala3.95
Appendix4.05
AtrioventricularNode3.15
BDCA4+_DentriticCells4.15
Bonemarrow3.8
BronchialEpithelialCells3.75
CD105+_Endothelial3.7
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.85
CD34+4.8
CD4+_Tcells3.85
CD56+_NKCells4.35
CD71+_EarlyErythroid3.55
CD8+_Tcells3.35
CardiacMyocytes4.75
Caudatenucleus3.55
Cerebellum3.1
CerebellumPeduncles4.3
CiliaryGanglion3.4
CingulateCortex4.4
Colorectaladenocarcinoma3.8
DorsalRootGanglion3.1
FetalThyroid3.7
Fetalbrain3.8
Fetalliver3.25
Fetallung2.95
GlobusPallidus3.2
Heart5.1
Hypothalamus4.1
Kidney3.2
Leukemia_chronicMyelogenousK-5623.4
Leukemia_promyelocytic-HL-603.35
Leukemialymphoblastic(MOLT-4)3.1
Liver4.9
Lung4.2
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.2
MedullaOblongata3.45
OccipitalLobe3.4
OlfactoryBulb2.95
Ovary2.45
Pancreas3.05
PancreaticIslet4.05
ParietalLobe4
Pituitary4.5
Placenta3.7
Pons3.6
PrefrontalCortex4.65
Prostate4.45
Salivarygland3.05
SkeletalMuscle5.15
Skin2.95
SmoothMuscle4.3
Spinalcord4.05
SubthalamicNucleus3.9
SuperiorCervicalGanglion4.3
TemporalLobe3.5
Testis3.2
TestisGermCell3.2
TestisIntersitial3.15
TestisLeydigCell3.8
TestisSeminiferousTubule3.25
Thalamus3.85
Thymus3.05
Thyroid4.6
Tongue4.05
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.8
Uterus3.1
UterusCorpus3.35
WholeBlood4.15
Wholebrain3.2
colon3.7
pineal_day4.46
pineal_night4.36
retina4.425
small_intestine3.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11145_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.04 ± 1.06
Basal Forebrain2.85 ± 0.35
Basal Part of Pons2.6 ± 0.67
Cerebellar Cortex2.43 ± 0.59
Cerebellar Nuclei3.44 ± 0.6
Claustrum3.39 ± 0.71
Epithalamus2.1 ± 0.59
Frontal Lobe2.57 ± 0.8
Globus Pallidus3.37 ± 0.43
Hypothalamus2.41 ± 0.75
Insula2.27 ± 0.65
Limbic Lobe2.49 ± 0.78
Mesencephalon2.85 ± 0.63
Myelencephalon2.71 ± 0.74
Occipital Lobe2.76 ± 0.82
Parietal Lobe2.62 ± 0.67
Pontine Tegmentum2.53 ± 0.72
Striatum2.91 ± 0.83
Subthalamus2.86 ± 0.53
Temporal Lobe2.66 ± 0.7
Thalamus2.78 ± 0.62
White Matter2.36 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kirrel1CBCerebellum4.58
4.77
Kirrel1CTXCerebral cortex3.05
1.93
Kirrel1HIPHippocampal region1.21
1.01
Kirrel1HPFHippocampal formation2.3
1.91
Kirrel1HYHypothalamus2.24
1.82
Kirrel1LSXLateral septal complex0.67
0.48
Kirrel1MBMidbrain5.18
4
Kirrel1MYMedulla5.29
5.07
Kirrel1OLFOlfactory bulb5.27
4.45
Kirrel1PPons2.91
2.59
Kirrel1PALPallidum3.55
2.98
Kirrel1RHPRetrohippocampal region4.31
3.29
Kirrel1sAMYStriatum-like amygdalar nuclei2.76
1.84
Kirrel1STRStriatum1.78
1.16
Kirrel1STRdStriatum dorsal region1.32
0.88
Kirrel1STRvStriatum ventral region3.23
1.94
Kirrel1THThalamus1.95
1.62
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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